Incidental Mutation 'R2138:Obscn'
ID235981
Institutional Source Beutler Lab
Gene Symbol Obscn
Ensembl Gene ENSMUSG00000061462
Gene Nameobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
SynonymsOTTMUSG00000005786, LOC380698
MMRRC Submission 040141-MU
Accession Numbers

Genbank: NM_001171512.1, NM_199152.2; MGI: 2681862

Is this an essential gene? Possibly essential (E-score: 0.731) question?
Stock #R2138 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location58994256-59136402 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 59003665 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 1191 (Y1191*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047441]
Predicted Effect probably null
Transcript: ENSMUST00000047441
AA Change: Y6671*
SMART Domains Protein: ENSMUSP00000038264
Gene: ENSMUSG00000061462
AA Change: Y6671*

DomainStartEndE-ValueType
IGc2 21 88 8e-12 SMART
IGc2 121 190 8.31e-10 SMART
low complexity region 191 207 N/A INTRINSIC
IGc2 248 316 4.63e-8 SMART
IG 337 417 5.32e-8 SMART
IG_like 425 506 1.5e2 SMART
FN3 510 596 2.11e-9 SMART
IG 711 790 2.39e-1 SMART
IGc2 876 942 2.54e-5 SMART
IGc2 968 1034 2.54e-5 SMART
IGc2 1060 1126 4.49e-6 SMART
IGc2 1152 1218 7.82e-6 SMART
IGc2 1244 1310 5.16e-6 SMART
IGc2 1336 1402 1.93e-5 SMART
IGc2 1428 1494 1.93e-5 SMART
IGc2 1520 1586 1.93e-5 SMART
IGc2 1612 1678 1.93e-5 SMART
IGc2 1704 1770 1.93e-5 SMART
IGc2 1796 1862 7.94e-7 SMART
IG 1882 1962 5.37e-4 SMART
IG 1972 2051 9.93e-8 SMART
IG 2062 2141 2.48e-8 SMART
IG 2151 2230 3.89e-1 SMART
IG 2240 2319 1.92e0 SMART
IG 2329 2407 6.45e-7 SMART
IG 2452 2531 1.22e-7 SMART
IGc2 2637 2703 9.93e-8 SMART
low complexity region 2705 2716 N/A INTRINSIC
IG 2720 2799 2.44e0 SMART
IGc2 2815 2881 2.1e-6 SMART
IG 2898 2979 2.86e0 SMART
IGc2 2995 3061 8.38e-6 SMART
IG 3078 3157 1.2e-6 SMART
IG 3167 3248 1.42e-3 SMART
IGc2 3264 3330 3.85e-5 SMART
IGc2 3353 3419 3.13e-5 SMART
IGc2 3442 3507 3.3e-4 SMART
IGc2 3530 3595 5.84e-5 SMART
IGc2 3618 3683 1.29e-6 SMART
IG_like 3706 3771 3.16e-1 SMART
IGc2 3779 3844 1.46e-5 SMART
IGc2 3867 3932 1.56e-5 SMART
IGc2 3955 4020 1.19e-5 SMART
IGc2 4043 4108 1.93e-5 SMART
IG 4125 4203 1.85e-7 SMART
IGc2 4219 4285 5.08e-5 SMART
IGc2 4308 4374 1.11e-5 SMART
IGc2 4397 4465 6.71e-5 SMART
IG 4482 4564 2.06e-5 SMART
IG 4574 4655 5.01e-4 SMART
IG 4664 4746 1.04e-1 SMART
FN3 4749 4831 2.44e-14 SMART
IG 4858 4940 3.68e-2 SMART
IQ 5100 5122 3.65e-4 SMART
IGc2 5139 5207 8.72e-4 SMART
low complexity region 5215 5231 N/A INTRINSIC
low complexity region 5232 5248 N/A INTRINSIC
low complexity region 5251 5274 N/A INTRINSIC
IGc2 5369 5437 3.25e-12 SMART
low complexity region 5450 5466 N/A INTRINSIC
IG 5496 5580 1.55e0 SMART
IGc2 5612 5685 1.82e-6 SMART
low complexity region 5799 5829 N/A INTRINSIC
SH3 5832 5895 1.22e0 SMART
Pfam:RhoGEF 5926 6104 4.5e-21 PFAM
PH 6125 6235 2.74e-11 SMART
IGc2 6255 6323 3.73e-12 SMART
IGc2 6349 6418 1.18e-14 SMART
IGc2 6464 6531 1.7e-6 SMART
S_TKc 6562 6815 1.66e-79 SMART
Blast:STYKc 6843 6935 5e-39 BLAST
low complexity region 6939 6954 N/A INTRINSIC
low complexity region 7013 7029 N/A INTRINSIC
low complexity region 7146 7161 N/A INTRINSIC
low complexity region 7199 7219 N/A INTRINSIC
low complexity region 7499 7514 N/A INTRINSIC
IGc2 7538 7606 6.3e-10 SMART
FN3 7620 7698 9.33e-2 SMART
STYKc 7736 7988 8.55e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101162
Predicted Effect probably null
Transcript: ENSMUST00000138587
AA Change: Y1191*
SMART Domains Protein: ENSMUSP00000121092
Gene: ENSMUSG00000061462
AA Change: Y1191*

DomainStartEndE-ValueType
IG 2 83 1.28e-1 SMART
low complexity region 186 216 N/A INTRINSIC
SH3 219 282 1.22e0 SMART
Pfam:RhoGEF 313 491 6.1e-22 PFAM
PH 512 622 2.74e-11 SMART
IGc2 642 710 3.73e-12 SMART
IGc2 736 805 1.18e-14 SMART
low complexity region 843 857 N/A INTRINSIC
IGc2 985 1052 1.7e-6 SMART
S_TKc 1083 1336 1.66e-79 SMART
Blast:STYKc 1364 1456 1e-38 BLAST
low complexity region 1460 1475 N/A INTRINSIC
low complexity region 1534 1550 N/A INTRINSIC
low complexity region 1667 1682 N/A INTRINSIC
low complexity region 1720 1740 N/A INTRINSIC
low complexity region 2020 2035 N/A INTRINSIC
IGc2 2059 2127 6.3e-10 SMART
FN3 2141 2219 9.33e-2 SMART
STYKc 2257 2509 8.55e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162526
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,283,963 V6A probably benign Het
Abcc6 A G 7: 45,981,051 F1262L probably damaging Het
Acot13 A T 13: 24,818,205 probably null Het
Adgrv1 T C 13: 81,445,320 I4183V probably benign Het
Aff4 T G 11: 53,372,512 S120A possibly damaging Het
Afp A G 5: 90,499,647 E250G probably damaging Het
Ankrd34b A T 13: 92,439,406 D382V probably damaging Het
Arhgef19 A T 4: 141,250,800 I577F probably damaging Het
Arl6 A G 16: 59,622,467 probably benign Het
Atp2b2 A T 6: 113,796,307 M333K probably benign Het
Atp8b3 C A 10: 80,527,105 A635S possibly damaging Het
Baiap2 A G 11: 119,957,102 T19A possibly damaging Het
Bcar3 A G 3: 122,512,996 D206G probably damaging Het
Ccdc162 A T 10: 41,581,297 M85K probably benign Het
Clec4a4 A G 6: 123,023,978 N217D probably damaging Het
Csmd1 T C 8: 15,929,088 Y2832C probably damaging Het
Cubn A G 2: 13,444,378 I962T probably damaging Het
Dennd4a A G 9: 64,889,337 Y852C probably damaging Het
Dhcr24 G T 4: 106,572,302 E191* probably null Het
Dusp12 G A 1: 170,880,597 Q114* probably null Het
Elfn2 G T 15: 78,674,038 T103K probably benign Het
Eme1 A T 11: 94,648,192 V314E probably damaging Het
Epb41l3 A G 17: 69,207,880 E4G probably damaging Het
Exoc6b A T 6: 84,989,482 L170Q probably damaging Het
Fam129a G A 1: 151,696,251 V316M probably damaging Het
Fbln5 C T 12: 101,761,920 M261I probably benign Het
Fgf22 T C 10: 79,756,601 V64A probably damaging Het
Gak C T 5: 108,606,877 probably null Het
Gatad2b T A 3: 90,352,113 S401R probably damaging Het
Gen1 A T 12: 11,241,621 S722R probably damaging Het
Gm10754 A T 10: 97,682,270 probably benign Het
Gm8897 A T 5: 11,419,085 R68* probably null Het
Grid2 G A 6: 64,345,798 R594Q probably damaging Het
Grm7 C A 6: 110,646,137 N90K probably damaging Het
Herc1 G A 9: 66,470,307 V3452M possibly damaging Het
Il22ra2 T A 10: 19,632,870 F215L probably benign Het
Kank1 G A 19: 25,411,753 G930D probably benign Het
Klra3 A T 6: 130,333,158 V133D probably benign Het
Lims2 A G 18: 31,955,407 E220G possibly damaging Het
Mbd3l2 A T 9: 18,444,958 D193V probably damaging Het
Mbl1 T A 14: 41,153,691 I34K possibly damaging Het
Mgam C T 6: 40,756,450 P839S probably damaging Het
Mmp9 G T 2: 164,952,467 E460* probably null Het
Mov10 T C 3: 104,804,242 H316R probably benign Het
Ms4a18 A T 19: 10,997,331 V332D possibly damaging Het
Myo15b T C 11: 115,883,807 S2082P probably benign Het
Myrfl G A 10: 116,795,538 T706I probably benign Het
Nampt C A 12: 32,838,422 H191N possibly damaging Het
Nphp3 A G 9: 104,025,903 E693G possibly damaging Het
Olfr19 A G 16: 16,673,205 Y259H probably damaging Het
Olfr398 A T 11: 73,984,303 Y102N probably damaging Het
Olfr419 A T 1: 174,250,736 probably null Het
Osbpl10 A G 9: 115,232,134 N760S probably benign Het
Otof A G 5: 30,461,770 V10A probably benign Het
Pkhd1l1 A C 15: 44,501,457 E664A probably damaging Het
Pnp2 T C 14: 50,963,704 S178P probably damaging Het
Pvr G A 7: 19,917,002 T199I probably damaging Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rnaseh2b T C 14: 62,361,345 V173A probably benign Het
Sept12 C T 16: 4,992,206 R155H probably damaging Het
Slco6d1 G T 1: 98,443,660 R290L probably benign Het
Snx32 A G 19: 5,496,129 V335A probably damaging Het
Son T C 16: 91,659,372 V1669A possibly damaging Het
Tbata C T 10: 61,179,284 T116I probably benign Het
Tdrd1 T A 19: 56,842,589 S279T probably benign Het
Thsd7a A T 6: 12,471,073 Y515* probably null Het
Tmem102 T G 11: 69,805,114 L40F probably damaging Het
Tmem169 A G 1: 72,300,996 N195S probably damaging Het
Tmem201 A T 4: 149,718,080 S613T probably damaging Het
Tnfaip6 A T 2: 52,052,332 I218F possibly damaging Het
Tube1 C A 10: 39,147,351 H331Q probably benign Het
Wwc1 G A 11: 35,841,887 T998I possibly damaging Het
Xpc A T 6: 91,498,122 Y638* probably null Het
Zdhhc4 A T 5: 143,324,262 Y80* probably null Het
Other mutations in Obscn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Obscn APN 11 59002057 missense probably benign 0.01
IGL00417:Obscn APN 11 59006788 missense unknown
IGL01018:Obscn APN 11 59128069 missense probably damaging 0.99
IGL01083:Obscn APN 11 59036093 missense probably damaging 0.99
IGL01109:Obscn APN 11 59133762 missense probably damaging 1.00
IGL01139:Obscn APN 11 59078352 missense probably damaging 1.00
IGL01361:Obscn APN 11 59028889 missense probably damaging 0.99
IGL01370:Obscn APN 11 58995563 critical splice acceptor site probably null
IGL01409:Obscn APN 11 59031058 missense probably damaging 1.00
IGL01432:Obscn APN 11 59033757 missense probably benign 0.27
IGL01527:Obscn APN 11 59064417 missense possibly damaging 0.83
IGL01543:Obscn APN 11 59042117 missense probably benign 0.01
IGL01578:Obscn APN 11 58999680 missense unknown
IGL01603:Obscn APN 11 59037805 missense probably damaging 1.00
IGL01750:Obscn APN 11 59031639 missense probably damaging 1.00
IGL01765:Obscn APN 11 59115784 missense possibly damaging 0.58
IGL01805:Obscn APN 11 59132596 missense probably damaging 0.99
IGL01816:Obscn APN 11 58995779 splice site probably benign
IGL01885:Obscn APN 11 59074968 missense possibly damaging 0.60
IGL01911:Obscn APN 11 59008595 nonsense probably null
IGL01963:Obscn APN 11 59020541 missense probably benign 0.16
IGL02012:Obscn APN 11 59076507 missense probably benign 0.03
IGL02096:Obscn APN 11 59080704 missense probably damaging 0.98
IGL02125:Obscn APN 11 59093326 missense possibly damaging 0.95
IGL02125:Obscn APN 11 59022362 missense probably damaging 1.00
IGL02203:Obscn APN 11 59082308 missense probably damaging 1.00
IGL02232:Obscn APN 11 59038978 missense probably damaging 0.97
IGL02262:Obscn APN 11 59028533 missense possibly damaging 0.88
IGL02304:Obscn APN 11 59076622 missense probably damaging 1.00
IGL02306:Obscn APN 11 58999671 missense unknown
IGL02323:Obscn APN 11 59008522 missense possibly damaging 0.51
IGL02341:Obscn APN 11 59135825 missense probably benign 0.09
IGL02342:Obscn APN 11 59001088 missense probably benign 0.00
IGL02352:Obscn APN 11 59001027 missense probably benign 0.10
IGL02397:Obscn APN 11 59076899 missense possibly damaging 0.67
IGL02405:Obscn APN 11 59132602 missense probably damaging 0.96
IGL02427:Obscn APN 11 59067162 missense probably damaging 1.00
IGL02479:Obscn APN 11 59056227 splice site probably benign
IGL02512:Obscn APN 11 59028517 missense probably damaging 1.00
IGL02566:Obscn APN 11 59068147 missense probably damaging 1.00
IGL02613:Obscn APN 11 59002132 missense probably benign 0.03
IGL02634:Obscn APN 11 59054785 missense probably damaging 1.00
IGL02680:Obscn APN 11 59000020 missense unknown
IGL02715:Obscn APN 11 59080311 missense probably benign 0.25
IGL02718:Obscn APN 11 59077858 missense probably damaging 1.00
IGL02723:Obscn APN 11 59124620 missense probably benign 0.17
IGL02735:Obscn APN 11 59093349 missense probably damaging 1.00
IGL02951:Obscn APN 11 58994513 splice site probably benign
IGL03004:Obscn APN 11 59028587 missense probably damaging 1.00
IGL03078:Obscn APN 11 59078798 splice site probably null
IGL03114:Obscn APN 11 59000539 missense unknown
IGL03125:Obscn APN 11 59061648 missense probably damaging 1.00
IGL03150:Obscn APN 11 59051723 missense probably damaging 1.00
IGL03156:Obscn APN 11 59054896 missense probably damaging 1.00
IGL03169:Obscn APN 11 59073296 missense probably damaging 1.00
IGL03297:Obscn APN 11 59060886 missense possibly damaging 0.83
IGL03326:Obscn APN 11 59032902 missense probably damaging 1.00
IGL03345:Obscn APN 11 58995482 unclassified probably benign
IGL03348:Obscn APN 11 59050362 missense probably damaging 1.00
IGL03355:Obscn APN 11 59037792 missense probably damaging 1.00
IGL03377:Obscn APN 11 58999873 missense probably damaging 1.00
IGL03396:Obscn APN 11 59073578 missense probably benign 0.12
IGL03405:Obscn APN 11 59000124 missense unknown
obscurity UTSW 11 58994700 nonsense probably null
IGL02802:Obscn UTSW 11 59000484 missense unknown
N/A - 535:Obscn UTSW 11 59000308 missense possibly damaging 0.67
PIT4131001:Obscn UTSW 11 59067064 critical splice donor site probably null
R0033:Obscn UTSW 11 58994746 unclassified probably benign
R0041:Obscn UTSW 11 59043977 missense probably damaging 1.00
R0042:Obscn UTSW 11 59052585 missense probably damaging 1.00
R0064:Obscn UTSW 11 59027466 missense probably damaging 1.00
R0064:Obscn UTSW 11 59027466 missense probably damaging 1.00
R0071:Obscn UTSW 11 59064201 missense possibly damaging 0.85
R0077:Obscn UTSW 11 59051521 splice site probably benign
R0083:Obscn UTSW 11 59022374 missense probably damaging 1.00
R0089:Obscn UTSW 11 59000062 missense unknown
R0092:Obscn UTSW 11 59051247 missense possibly damaging 0.96
R0103:Obscn UTSW 11 59062696 nonsense probably null
R0103:Obscn UTSW 11 59062696 nonsense probably null
R0108:Obscn UTSW 11 59022374 missense probably damaging 1.00
R0152:Obscn UTSW 11 59052576 missense probably benign 0.06
R0268:Obscn UTSW 11 59067272 missense possibly damaging 0.78
R0271:Obscn UTSW 11 59056742 intron probably benign
R0281:Obscn UTSW 11 59038615 missense probably damaging 1.00
R0329:Obscn UTSW 11 59040441 missense probably damaging 1.00
R0329:Obscn UTSW 11 59052506 missense probably damaging 1.00
R0360:Obscn UTSW 11 59128281 missense probably benign 0.22
R0364:Obscn UTSW 11 59128281 missense probably benign 0.22
R0382:Obscn UTSW 11 59040306 missense probably damaging 1.00
R0386:Obscn UTSW 11 59136339 missense probably damaging 1.00
R0403:Obscn UTSW 11 59076540 missense probably damaging 1.00
R0413:Obscn UTSW 11 59002997 missense probably benign 0.03
R0437:Obscn UTSW 11 58995088 unclassified probably benign
R0442:Obscn UTSW 11 59002174 splice site probably benign
R0445:Obscn UTSW 11 58999335 missense unknown
R0446:Obscn UTSW 11 58995412 unclassified probably benign
R0454:Obscn UTSW 11 58999623 missense unknown
R0463:Obscn UTSW 11 59061530 missense probably benign 0.07
R0479:Obscn UTSW 11 59112707 missense probably damaging 1.00
R0480:Obscn UTSW 11 59133946 nonsense probably null
R0504:Obscn UTSW 11 59008507 critical splice donor site probably null
R0507:Obscn UTSW 11 59029341 missense probably damaging 1.00
R0513:Obscn UTSW 11 59061522 missense possibly damaging 0.81
R0541:Obscn UTSW 11 59081984 missense probably damaging 1.00
R0551:Obscn UTSW 11 59107862 nonsense probably null
R0573:Obscn UTSW 11 59036079 missense probably damaging 1.00
R0599:Obscn UTSW 11 59073696 missense probably damaging 1.00
R0637:Obscn UTSW 11 59051644 missense probably damaging 1.00
R0637:Obscn UTSW 11 59082776 missense probably damaging 0.96
R0653:Obscn UTSW 11 59007708 unclassified probably benign
R0712:Obscn UTSW 11 59049445 missense possibly damaging 0.72
R0715:Obscn UTSW 11 59050480 missense probably benign 0.23
R0729:Obscn UTSW 11 59032709 missense probably damaging 1.00
R0741:Obscn UTSW 11 59063453 frame shift probably null
R0745:Obscn UTSW 11 59082239 missense probably benign 0.14
R0751:Obscn UTSW 11 59081819 missense probably damaging 1.00
R0834:Obscn UTSW 11 59133278 missense probably benign 0.25
R0863:Obscn UTSW 11 58995415 unclassified probably benign
R0909:Obscn UTSW 11 59075064 missense probably damaging 1.00
R0965:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R0969:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R0980:Obscn UTSW 11 58998061 missense possibly damaging 0.92
R1017:Obscn UTSW 11 58998353 missense unknown
R1103:Obscn UTSW 11 59021483 missense probably damaging 1.00
R1107:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R1128:Obscn UTSW 11 59028943 missense probably null 0.71
R1164:Obscn UTSW 11 59036087 missense possibly damaging 0.65
R1192:Obscn UTSW 11 59067199 missense probably benign 0.33
R1298:Obscn UTSW 11 59054897 missense possibly damaging 0.65
R1331:Obscn UTSW 11 59086928 missense probably benign 0.09
R1333:Obscn UTSW 11 59080317 missense probably damaging 0.99
R1341:Obscn UTSW 11 59029372 splice site probably benign
R1385:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R1386:Obscn UTSW 11 59133853 missense probably damaging 1.00
R1390:Obscn UTSW 11 59093448 missense probably damaging 1.00
R1460:Obscn UTSW 11 59055966 missense probably damaging 1.00
R1495:Obscn UTSW 11 59080160 missense probably damaging 0.99
R1496:Obscn UTSW 11 59031036 missense probably benign 0.01
R1524:Obscn UTSW 11 59115855 missense probably damaging 1.00
R1526:Obscn UTSW 11 59028586 missense probably damaging 1.00
R1537:Obscn UTSW 11 59000749 missense unknown
R1554:Obscn UTSW 11 59003648 missense unknown
R1561:Obscn UTSW 11 59036073 missense probably damaging 1.00
R1589:Obscn UTSW 11 59036075 missense possibly damaging 0.89
R1615:Obscn UTSW 11 59099825 missense probably benign 0.09
R1627:Obscn UTSW 11 59112638 missense probably benign 0.14
R1634:Obscn UTSW 11 59076896 missense probably damaging 1.00
R1636:Obscn UTSW 11 59122637 missense probably damaging 1.00
R1681:Obscn UTSW 11 59103325 missense probably damaging 1.00
R1686:Obscn UTSW 11 59106287 splice site probably benign
R1713:Obscn UTSW 11 59079886 missense probably damaging 1.00
R1730:Obscn UTSW 11 59073633 missense probably damaging 1.00
R1781:Obscn UTSW 11 59106337 missense probably damaging 1.00
R1783:Obscn UTSW 11 59073633 missense probably damaging 1.00
R1793:Obscn UTSW 11 59077780 missense probably damaging 1.00
R1796:Obscn UTSW 11 59029337 missense possibly damaging 0.94
R1801:Obscn UTSW 11 58998321 missense unknown
R1824:Obscn UTSW 11 58994832 unclassified probably benign
R1856:Obscn UTSW 11 59040296 missense probably damaging 1.00
R1866:Obscn UTSW 11 59060915 missense probably benign 0.34
R1878:Obscn UTSW 11 58995553 missense probably damaging 0.99
R1883:Obscn UTSW 11 59078203 missense probably damaging 1.00
R1926:Obscn UTSW 11 59063474 missense possibly damaging 0.69
R1967:Obscn UTSW 11 59135709 nonsense probably null
R1975:Obscn UTSW 11 59067729 missense probably damaging 1.00
R1992:Obscn UTSW 11 58995827 unclassified probably benign
R2021:Obscn UTSW 11 59067174 missense probably benign 0.40
R2066:Obscn UTSW 11 59135732 missense possibly damaging 0.59
R2074:Obscn UTSW 11 59069281 missense probably damaging 0.99
R2074:Obscn UTSW 11 59132652 missense probably damaging 1.00
R2081:Obscn UTSW 11 59034182 missense possibly damaging 0.90
R2083:Obscn UTSW 11 59073631 nonsense probably null
R2086:Obscn UTSW 11 59078256 missense probably damaging 0.99
R2095:Obscn UTSW 11 59093584 splice site probably null
R2098:Obscn UTSW 11 59069991 missense probably damaging 1.00
R2114:Obscn UTSW 11 59131658 missense probably damaging 0.99
R2193:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2194:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2210:Obscn UTSW 11 59068087 missense probably damaging 1.00
R2233:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2234:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2287:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2288:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2351:Obscn UTSW 11 59112612 missense probably damaging 0.99
R2376:Obscn UTSW 11 59069124 missense probably damaging 1.00
R2384:Obscn UTSW 11 59042837 critical splice donor site probably null
R2401:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2402:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2403:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2424:Obscn UTSW 11 58994451 unclassified probably benign
R2433:Obscn UTSW 11 59039086 unclassified probably null
R2445:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2446:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2447:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2449:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2483:Obscn UTSW 11 59080146 missense probably damaging 1.00
R2484:Obscn UTSW 11 59007540 unclassified probably benign
R2496:Obscn UTSW 11 59103442 missense probably damaging 1.00
R2510:Obscn UTSW 11 59042314 splice site probably benign
R2851:Obscn UTSW 11 59030018 critical splice donor site probably null
R2878:Obscn UTSW 11 59056188 missense possibly damaging 0.94
R2879:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2885:Obscn UTSW 11 59086748 missense probably damaging 1.00
R2885:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2886:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R2985:Obscn UTSW 11 59133089 missense probably damaging 1.00
R3013:Obscn UTSW 11 59060918 missense probably damaging 1.00
R3118:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3236:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3237:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3432:Obscn UTSW 11 59031177 missense probably damaging 1.00
R3694:Obscn UTSW 11 59078395 missense probably damaging 1.00
R3716:Obscn UTSW 11 59082661 missense probably damaging 1.00
R3717:Obscn UTSW 11 59082661 missense probably damaging 1.00
R3743:Obscn UTSW 11 59079085 missense probably damaging 0.99
R3760:Obscn UTSW 11 59028580 missense probably damaging 1.00
R3795:Obscn UTSW 11 59031841 missense probably damaging 1.00
R3857:Obscn UTSW 11 59080969 unclassified probably benign
R3858:Obscn UTSW 11 59080969 unclassified probably benign
R3862:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3863:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3864:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3881:Obscn UTSW 11 59056949 missense probably damaging 1.00
R3890:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3903:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3923:Obscn UTSW 11 59060928 missense possibly damaging 0.96
R3944:Obscn UTSW 11 59132547 missense probably damaging 1.00
R3947:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3948:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R3955:Obscn UTSW 11 59036768 missense probably damaging 1.00
R3970:Obscn UTSW 11 59051662 missense probably damaging 1.00
R3971:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4001:Obscn UTSW 11 59134569 missense probably damaging 1.00
R4005:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4017:Obscn UTSW 11 59132622 missense probably damaging 1.00
R4028:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4029:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4041:Obscn UTSW 11 59051531 nonsense probably null
R4061:Obscn UTSW 11 59008532 missense probably damaging 1.00
R4062:Obscn UTSW 11 59082710 missense probably damaging 0.99
R4072:Obscn UTSW 11 58997183 missense unknown
R4078:Obscn UTSW 11 59038363 missense probably benign 0.41
R4079:Obscn UTSW 11 59038363 missense probably benign 0.41
R4092:Obscn UTSW 11 59056060 missense probably benign 0.12
R4106:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4108:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4403:Obscn UTSW 11 59069093 missense possibly damaging 0.95
R4477:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4478:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4480:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4489:Obscn UTSW 11 59031591 missense possibly damaging 0.74
R4531:Obscn UTSW 11 59007874 unclassified probably benign
R4551:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4552:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4553:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4558:Obscn UTSW 11 59131646 missense possibly damaging 0.90
R4570:Obscn UTSW 11 59006828 splice site probably null
R4575:Obscn UTSW 11 59122772 missense probably damaging 0.99
R4593:Obscn UTSW 11 59133249 missense probably damaging 1.00
R4604:Obscn UTSW 11 59080205 missense probably damaging 1.00
R4604:Obscn UTSW 11 59122746 missense probably damaging 0.96
R4625:Obscn UTSW 11 59067258 missense probably damaging 1.00
R4646:Obscn UTSW 11 59124570 nonsense probably null
R4651:Obscn UTSW 11 59038877 missense probably damaging 1.00
R4652:Obscn UTSW 11 59038877 missense probably damaging 1.00
R4657:Obscn UTSW 11 59042290 missense probably damaging 1.00
R4658:Obscn UTSW 11 59054288 nonsense probably null
R4662:Obscn UTSW 11 58999596 missense unknown
R4665:Obscn UTSW 11 59124752 missense probably damaging 1.00
R4718:Obscn UTSW 11 59021954 missense probably damaging 1.00
R4736:Obscn UTSW 11 59063536 missense probably damaging 1.00
R4746:Obscn UTSW 11 59079808 critical splice donor site probably null
R4754:Obscn UTSW 11 59036043 missense possibly damaging 0.81
R4758:Obscn UTSW 11 59003363 missense unknown
R4758:Obscn UTSW 11 59135917 missense probably damaging 0.98
R4766:Obscn UTSW 11 59012742 missense probably damaging 1.00
R4798:Obscn UTSW 11 59069859 missense probably damaging 0.99
R4810:Obscn UTSW 11 59031591 missense possibly damaging 0.74
R4819:Obscn UTSW 11 59038848 missense probably damaging 0.97
R4821:Obscn UTSW 11 59006826 splice site probably benign
R4821:Obscn UTSW 11 59040467 missense probably damaging 1.00
R4822:Obscn UTSW 11 59022333 missense probably benign 0.11
R4828:Obscn UTSW 11 59086670 missense possibly damaging 0.93
R4829:Obscn UTSW 11 59054246 missense probably null 0.53
R4830:Obscn UTSW 11 59067607 missense probably damaging 1.00
R4859:Obscn UTSW 11 59082023 missense possibly damaging 0.89
R4870:Obscn UTSW 11 59136206 missense probably damaging 1.00
R4909:Obscn UTSW 11 59061465 missense possibly damaging 0.52
R4955:Obscn UTSW 11 59069172 missense probably benign 0.31
R4973:Obscn UTSW 11 59132466 missense probably damaging 1.00
R4993:Obscn UTSW 11 59124761 missense possibly damaging 0.48
R5034:Obscn UTSW 11 59061676 nonsense probably null
R5054:Obscn UTSW 11 59073617 missense probably damaging 1.00
R5077:Obscn UTSW 11 59044057 missense probably damaging 0.98
R5126:Obscn UTSW 11 59077063 missense probably damaging 1.00
R5135:Obscn UTSW 11 59129653 missense probably damaging 1.00
R5161:Obscn UTSW 11 59028604 missense probably damaging 1.00
R5161:Obscn UTSW 11 59064310 missense possibly damaging 0.60
R5195:Obscn UTSW 11 59060850 missense possibly damaging 0.78
R5222:Obscn UTSW 11 59044145 missense possibly damaging 0.80
R5260:Obscn UTSW 11 59003369 missense probably damaging 1.00
R5301:Obscn UTSW 11 59135408 missense probably damaging 1.00
R5305:Obscn UTSW 11 59012715 missense possibly damaging 0.83
R5323:Obscn UTSW 11 58996877 missense probably benign
R5333:Obscn UTSW 11 59062692 missense probably damaging 1.00
R5366:Obscn UTSW 11 59080260 missense probably damaging 1.00
R5368:Obscn UTSW 11 59069026 critical splice donor site probably null
R5408:Obscn UTSW 11 59051611 missense probably damaging 1.00
R5439:Obscn UTSW 11 59000128 nonsense probably null
R5536:Obscn UTSW 11 59107871 missense probably damaging 1.00
R5561:Obscn UTSW 11 59036093 missense probably damaging 0.99
R5573:Obscn UTSW 11 59034705 missense possibly damaging 0.94
R5582:Obscn UTSW 11 59099976 splice site probably null
R5586:Obscn UTSW 11 59001468 nonsense probably null
R5607:Obscn UTSW 11 59122848 missense probably benign 0.22
R5700:Obscn UTSW 11 59133194 missense probably benign 0.37
R5706:Obscn UTSW 11 59076256 missense probably damaging 1.00
R5718:Obscn UTSW 11 59036808 missense probably damaging 1.00
R5771:Obscn UTSW 11 59000707 missense unknown
R5772:Obscn UTSW 11 59056144 missense probably damaging 0.99
R5786:Obscn UTSW 11 59032691 missense probably damaging 1.00
R5807:Obscn UTSW 11 59079650 missense probably damaging 1.00
R5815:Obscn UTSW 11 59082189 splice site probably null
R5835:Obscn UTSW 11 59002081 missense probably benign 0.03
R5835:Obscn UTSW 11 59042127 missense probably damaging 1.00
R5846:Obscn UTSW 11 59038609 missense probably damaging 1.00
R5851:Obscn UTSW 11 58994700 nonsense probably null
R5933:Obscn UTSW 11 58998505 missense unknown
R5935:Obscn UTSW 11 59006813 missense unknown
R5974:Obscn UTSW 11 59076547 missense probably damaging 1.00
R5975:Obscn UTSW 11 59122619 critical splice donor site probably null
R6014:Obscn UTSW 11 59038864 missense probably damaging 1.00
R6026:Obscn UTSW 11 59067090 missense probably damaging 0.98
R6082:Obscn UTSW 11 58999567 missense unknown
R6124:Obscn UTSW 11 59079044 missense probably benign 0.45
R6130:Obscn UTSW 11 59077945 missense possibly damaging 0.90
R6160:Obscn UTSW 11 59051785 missense probably damaging 1.00
R6169:Obscn UTSW 11 59000499 missense unknown
R6177:Obscn UTSW 11 59032664 missense probably damaging 1.00
R6189:Obscn UTSW 11 59069934 missense probably benign 0.00
R6192:Obscn UTSW 11 58998038 missense unknown
R6195:Obscn UTSW 11 58997207 missense probably damaging 0.98
R6208:Obscn UTSW 11 59067648 missense possibly damaging 0.81
R6232:Obscn UTSW 11 59052511 nonsense probably null
R6233:Obscn UTSW 11 58997207 missense probably damaging 0.98
R6273:Obscn UTSW 11 59076993 missense possibly damaging 0.95
R6280:Obscn UTSW 11 59063683 missense possibly damaging 0.82
R6317:Obscn UTSW 11 59069895 missense probably damaging 1.00
R6345:Obscn UTSW 11 59053696 missense probably damaging 0.99
R6378:Obscn UTSW 11 59073746 missense probably damaging 1.00
R6382:Obscn UTSW 11 58999413 missense unknown
R6382:Obscn UTSW 11 59042208 missense probably damaging 0.99
R6415:Obscn UTSW 11 59035130 missense probably damaging 0.99
R6433:Obscn UTSW 11 59051558 missense probably benign 0.14
R6457:Obscn UTSW 11 59080771 missense probably damaging 0.99
R6508:Obscn UTSW 11 59054147 splice site probably null
R6611:Obscn UTSW 11 59064230 synonymous probably null
R6614:Obscn UTSW 11 59012801 missense probably benign 0.01
R6645:Obscn UTSW 11 59085262 missense probably damaging 0.97
R6646:Obscn UTSW 11 59082718 missense possibly damaging 0.72
R6659:Obscn UTSW 11 59039009 missense probably damaging 1.00
R6723:Obscn UTSW 11 59054998 missense probably damaging 0.99
R6733:Obscn UTSW 11 59028595 missense probably damaging 0.99
R6755:Obscn UTSW 11 59103326 missense probably damaging 1.00
R6770:Obscn UTSW 11 59044036 missense possibly damaging 0.88
R6820:Obscn UTSW 11 59051193 missense probably damaging 1.00
R6823:Obscn UTSW 11 59067943 critical splice donor site probably null
R6850:Obscn UTSW 11 59002129 missense possibly damaging 0.92
R6850:Obscn UTSW 11 59068124 missense possibly damaging 0.93
R6862:Obscn UTSW 11 58995453 unclassified probably benign
R6884:Obscn UTSW 11 59078302 missense probably damaging 1.00
R6894:Obscn UTSW 11 59132682 missense probably benign 0.43
R6906:Obscn UTSW 11 59032918 missense possibly damaging 0.85
R6944:Obscn UTSW 11 59038930 missense probably damaging 1.00
R6948:Obscn UTSW 11 59106316 missense probably damaging 1.00
R6959:Obscn UTSW 11 59037585 missense probably damaging 1.00
X0010:Obscn UTSW 11 58995553 unclassified probably benign
X0012:Obscn UTSW 11 59006776 missense unknown
X0021:Obscn UTSW 11 59077906 missense probably damaging 0.96
X0058:Obscn UTSW 11 59035968 missense probably damaging 1.00
X0061:Obscn UTSW 11 59077830 missense probably damaging 1.00
X0063:Obscn UTSW 11 59000056 missense unknown
X0067:Obscn UTSW 11 59131801 missense probably benign 0.19
Y4336:Obscn UTSW 11 59131646 missense possibly damaging 0.90
Y4337:Obscn UTSW 11 59131646 missense possibly damaging 0.90
Y4338:Obscn UTSW 11 59131646 missense possibly damaging 0.90
Y5407:Obscn UTSW 11 59021943 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTGAAGAGTCCTTGAGGCTAG -3'
(R):5'- TCAGGCCTTCATGAGTTTTCTGAG -3'

Sequencing Primer
(F):5'- TCCTTGAGGCTAGTAAAGGGC -3'
(R):5'- AGTTTTCTGAGGCTGGCCCC -3'
Posted On2014-10-01