Incidental Mutation 'R2108:Utrn'
ID 232276
Institutional Source Beutler Lab
Gene Symbol Utrn
Ensembl Gene ENSMUSG00000019820
Gene Name utrophin
Synonyms G-utrophin, Dmdl, DRP
MMRRC Submission 040112-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 12257932-12745109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 12312108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 616 (D616Y)
Ref Sequence ENSEMBL: ENSMUSP00000151628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000217994] [ENSMUST00000218635] [ENSMUST00000219003]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000076817
AA Change: D3090Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: D3090Y

DomainStartEndE-ValueType
CH 33 133 1.87e-24 SMART
CH 152 250 4.05e-20 SMART
SPEC 312 416 2.31e-18 SMART
SPEC 421 525 4.18e-16 SMART
SPEC 532 636 3.35e-6 SMART
low complexity region 665 679 N/A INTRINSIC
SPEC 690 795 1.7e-7 SMART
SPEC 801 901 1e-4 SMART
SPEC 910 1012 8.24e-2 SMART
SPEC 1019 1121 1.32e-4 SMART
SPEC 1128 1229 2.64e-4 SMART
SPEC 1236 1333 4.42e-6 SMART
coiled coil region 1375 1401 N/A INTRINSIC
SPEC 1438 1540 3.62e-2 SMART
SPEC 1547 1648 7.95e-1 SMART
SPEC 1655 1752 3.56e0 SMART
coiled coil region 1766 1795 N/A INTRINSIC
SPEC 1870 1972 3.63e0 SMART
SPEC 1979 2080 5.15e-16 SMART
SPEC 2087 2183 3.71e0 SMART
SPEC 2227 2330 4.7e-10 SMART
SPEC 2337 2437 1.02e0 SMART
SPEC 2444 2553 2.35e-10 SMART
SPEC 2560 2685 8.77e-10 SMART
SPEC 2692 2794 4.13e-6 SMART
WW 2811 2843 5.59e-7 SMART
Pfam:EF-hand_2 2844 2962 3.8e-41 PFAM
Pfam:EF-hand_3 2966 3057 1.6e-39 PFAM
ZnF_ZZ 3062 3107 6.33e-17 SMART
coiled coil region 3250 3289 N/A INTRINSIC
coiled coil region 3310 3354 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217994
AA Change: D647Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218635
AA Change: D3090Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219003
AA Change: D616Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9478 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign Het
Other mutations in Utrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Utrn APN 10 12,547,574 (GRCm39) missense probably damaging 1.00
IGL00469:Utrn APN 10 12,282,273 (GRCm39) missense probably damaging 1.00
IGL00518:Utrn APN 10 12,542,587 (GRCm39) splice site probably benign
IGL00560:Utrn APN 10 12,331,211 (GRCm39) nonsense probably null
IGL00589:Utrn APN 10 12,554,362 (GRCm39) missense possibly damaging 0.53
IGL00662:Utrn APN 10 12,540,705 (GRCm39) missense probably damaging 0.99
IGL00754:Utrn APN 10 12,539,236 (GRCm39) missense probably benign 0.05
IGL00772:Utrn APN 10 12,524,929 (GRCm39) missense probably benign
IGL00775:Utrn APN 10 12,620,974 (GRCm39) critical splice donor site probably null
IGL00782:Utrn APN 10 12,528,555 (GRCm39) missense probably benign 0.13
IGL00962:Utrn APN 10 12,357,078 (GRCm39) missense possibly damaging 0.80
IGL01584:Utrn APN 10 12,602,111 (GRCm39) missense probably benign 0.01
IGL01677:Utrn APN 10 12,619,901 (GRCm39) missense probably damaging 1.00
IGL01695:Utrn APN 10 12,621,086 (GRCm39) missense probably benign 0.00
IGL01743:Utrn APN 10 12,587,301 (GRCm39) missense possibly damaging 0.94
IGL01815:Utrn APN 10 12,528,460 (GRCm39) missense probably benign 0.00
IGL01901:Utrn APN 10 12,516,672 (GRCm39) missense probably damaging 1.00
IGL01982:Utrn APN 10 12,623,773 (GRCm39) missense probably damaging 1.00
IGL01983:Utrn APN 10 12,545,525 (GRCm39) missense probably benign 0.18
IGL02031:Utrn APN 10 12,610,948 (GRCm39) missense probably damaging 1.00
IGL02106:Utrn APN 10 12,289,717 (GRCm39) missense possibly damaging 0.92
IGL02134:Utrn APN 10 12,519,163 (GRCm39) missense probably damaging 0.99
IGL02209:Utrn APN 10 12,559,039 (GRCm39) missense probably damaging 0.97
IGL02217:Utrn APN 10 12,627,303 (GRCm39) missense probably damaging 1.00
IGL02250:Utrn APN 10 12,312,135 (GRCm39) missense probably damaging 1.00
IGL02307:Utrn APN 10 12,625,809 (GRCm39) nonsense probably null
IGL02386:Utrn APN 10 12,297,352 (GRCm39) missense possibly damaging 0.91
IGL02494:Utrn APN 10 12,585,798 (GRCm39) missense probably benign
IGL02631:Utrn APN 10 12,585,807 (GRCm39) missense probably benign 0.00
IGL02729:Utrn APN 10 12,596,554 (GRCm39) unclassified probably benign
IGL02736:Utrn APN 10 12,297,384 (GRCm39) missense probably damaging 1.00
IGL02832:Utrn APN 10 12,613,937 (GRCm39) missense possibly damaging 0.82
IGL02926:Utrn APN 10 12,566,504 (GRCm39) missense probably damaging 0.96
IGL03184:Utrn APN 10 12,585,910 (GRCm39) missense probably benign 0.04
IGL03194:Utrn APN 10 12,282,173 (GRCm39) splice site probably benign
IGL03346:Utrn APN 10 12,401,096 (GRCm39) missense probably benign 0.22
retiring UTSW 10 12,516,764 (GRCm39) missense probably damaging 1.00
shrinking_violet UTSW 10 12,587,329 (GRCm39) critical splice acceptor site probably null
Wallflower UTSW 10 12,623,719 (GRCm39) missense probably damaging 1.00
FR4548:Utrn UTSW 10 12,509,685 (GRCm39) critical splice donor site probably benign
I2288:Utrn UTSW 10 12,297,384 (GRCm39) missense probably damaging 1.00
PIT4677001:Utrn UTSW 10 12,542,448 (GRCm39) missense probably benign 0.06
R0022:Utrn UTSW 10 12,585,700 (GRCm39) splice site probably benign
R0024:Utrn UTSW 10 12,281,755 (GRCm39) missense probably benign 0.00
R0024:Utrn UTSW 10 12,281,755 (GRCm39) missense probably benign 0.00
R0026:Utrn UTSW 10 12,601,940 (GRCm39) splice site probably benign
R0026:Utrn UTSW 10 12,601,940 (GRCm39) splice site probably benign
R0091:Utrn UTSW 10 12,610,948 (GRCm39) missense probably damaging 1.00
R0112:Utrn UTSW 10 12,562,209 (GRCm39) nonsense probably null
R0126:Utrn UTSW 10 12,587,219 (GRCm39) missense probably benign 0.02
R0184:Utrn UTSW 10 12,543,362 (GRCm39) missense probably benign
R0219:Utrn UTSW 10 12,560,195 (GRCm39) missense probably damaging 1.00
R0369:Utrn UTSW 10 12,509,766 (GRCm39) missense probably benign 0.37
R0390:Utrn UTSW 10 12,585,804 (GRCm39) missense probably benign 0.05
R0391:Utrn UTSW 10 12,401,077 (GRCm39) splice site probably benign
R0408:Utrn UTSW 10 12,259,934 (GRCm39) makesense probably null
R0409:Utrn UTSW 10 12,519,345 (GRCm39) missense probably benign 0.01
R0441:Utrn UTSW 10 12,564,038 (GRCm39) missense probably null 0.88
R0504:Utrn UTSW 10 12,278,639 (GRCm39) missense probably benign 0.02
R0730:Utrn UTSW 10 12,573,902 (GRCm39) splice site probably benign
R1078:Utrn UTSW 10 12,331,310 (GRCm39) critical splice acceptor site probably null
R1171:Utrn UTSW 10 12,357,052 (GRCm39) missense probably damaging 0.99
R1191:Utrn UTSW 10 12,509,777 (GRCm39) missense probably benign 0.02
R1203:Utrn UTSW 10 12,362,281 (GRCm39) missense probably damaging 1.00
R1401:Utrn UTSW 10 12,524,897 (GRCm39) missense probably benign
R1418:Utrn UTSW 10 12,589,094 (GRCm39) missense probably benign
R1439:Utrn UTSW 10 12,619,793 (GRCm39) missense possibly damaging 0.79
R1441:Utrn UTSW 10 12,559,039 (GRCm39) missense probably damaging 0.97
R1445:Utrn UTSW 10 12,554,318 (GRCm39) splice site probably benign
R1509:Utrn UTSW 10 12,331,185 (GRCm39) missense possibly damaging 0.91
R1546:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1585:Utrn UTSW 10 12,312,029 (GRCm39) missense possibly damaging 0.62
R1621:Utrn UTSW 10 12,589,027 (GRCm39) missense probably benign 0.24
R1637:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1703:Utrn UTSW 10 12,603,473 (GRCm39) splice site probably benign
R1725:Utrn UTSW 10 12,539,263 (GRCm39) missense probably damaging 0.99
R1735:Utrn UTSW 10 12,585,882 (GRCm39) missense probably benign
R1770:Utrn UTSW 10 12,351,040 (GRCm39) missense probably damaging 0.98
R1778:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R1783:Utrn UTSW 10 12,339,083 (GRCm39) missense probably damaging 1.00
R1818:Utrn UTSW 10 12,585,708 (GRCm39) critical splice donor site probably null
R1829:Utrn UTSW 10 12,351,018 (GRCm39) missense probably damaging 1.00
R1919:Utrn UTSW 10 12,331,224 (GRCm39) missense probably benign 0.15
R1964:Utrn UTSW 10 12,560,181 (GRCm39) missense probably damaging 1.00
R2080:Utrn UTSW 10 12,612,826 (GRCm39) missense probably benign 0.36
R2092:Utrn UTSW 10 12,554,442 (GRCm39) missense probably benign 0.12
R2107:Utrn UTSW 10 12,312,108 (GRCm39) missense probably damaging 1.00
R2760:Utrn UTSW 10 12,566,622 (GRCm39) missense probably damaging 1.00
R2884:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2885:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2886:Utrn UTSW 10 12,615,105 (GRCm39) splice site probably null
R2903:Utrn UTSW 10 12,519,172 (GRCm39) missense probably damaging 1.00
R2944:Utrn UTSW 10 12,519,163 (GRCm39) missense probably damaging 1.00
R2945:Utrn UTSW 10 12,362,135 (GRCm39) missense possibly damaging 0.50
R3438:Utrn UTSW 10 12,357,062 (GRCm39) missense probably damaging 0.98
R3683:Utrn UTSW 10 12,542,579 (GRCm39) missense probably benign 0.10
R3735:Utrn UTSW 10 12,354,228 (GRCm39) missense probably damaging 1.00
R3907:Utrn UTSW 10 12,585,926 (GRCm39) splice site probably benign
R3923:Utrn UTSW 10 12,615,223 (GRCm39) missense probably benign 0.23
R3925:Utrn UTSW 10 12,573,786 (GRCm39) missense probably benign
R3926:Utrn UTSW 10 12,573,786 (GRCm39) missense probably benign
R3938:Utrn UTSW 10 12,625,774 (GRCm39) critical splice donor site probably null
R3941:Utrn UTSW 10 12,587,329 (GRCm39) critical splice acceptor site probably null
R3958:Utrn UTSW 10 12,625,852 (GRCm39) missense probably damaging 1.00
R4091:Utrn UTSW 10 12,585,915 (GRCm39) missense probably benign 0.10
R4454:Utrn UTSW 10 12,603,584 (GRCm39) missense possibly damaging 0.81
R4585:Utrn UTSW 10 12,564,050 (GRCm39) missense probably benign 0.01
R4667:Utrn UTSW 10 12,573,797 (GRCm39) missense probably benign 0.22
R4684:Utrn UTSW 10 12,620,984 (GRCm39) missense probably damaging 1.00
R4782:Utrn UTSW 10 12,625,813 (GRCm39) missense probably damaging 1.00
R4785:Utrn UTSW 10 12,530,489 (GRCm39) missense probably benign 0.39
R4799:Utrn UTSW 10 12,625,813 (GRCm39) missense probably damaging 1.00
R4829:Utrn UTSW 10 12,539,205 (GRCm39) missense probably benign 0.00
R4878:Utrn UTSW 10 12,603,502 (GRCm39) missense probably damaging 1.00
R4955:Utrn UTSW 10 12,737,311 (GRCm39) critical splice donor site probably null
R4967:Utrn UTSW 10 12,331,164 (GRCm39) missense probably damaging 0.99
R5071:Utrn UTSW 10 12,259,948 (GRCm39) splice site probably null
R5072:Utrn UTSW 10 12,259,948 (GRCm39) splice site probably null
R5186:Utrn UTSW 10 12,604,521 (GRCm39) missense probably damaging 1.00
R5213:Utrn UTSW 10 12,512,504 (GRCm39) missense probably damaging 1.00
R5296:Utrn UTSW 10 12,277,099 (GRCm39) missense probably damaging 1.00
R5309:Utrn UTSW 10 12,603,513 (GRCm39) missense probably damaging 1.00
R5312:Utrn UTSW 10 12,603,513 (GRCm39) missense probably damaging 1.00
R5399:Utrn UTSW 10 12,516,727 (GRCm39) missense probably damaging 1.00
R5407:Utrn UTSW 10 12,556,369 (GRCm39) missense probably damaging 1.00
R5411:Utrn UTSW 10 12,524,929 (GRCm39) missense probably benign
R5428:Utrn UTSW 10 12,569,175 (GRCm39) missense probably benign 0.09
R5595:Utrn UTSW 10 12,558,062 (GRCm39) missense possibly damaging 0.89
R5602:Utrn UTSW 10 12,625,839 (GRCm39) missense probably damaging 1.00
R5608:Utrn UTSW 10 12,547,581 (GRCm39) missense probably benign 0.00
R5678:Utrn UTSW 10 12,317,762 (GRCm39) missense probably damaging 1.00
R5726:Utrn UTSW 10 12,545,550 (GRCm39) missense probably benign
R5804:Utrn UTSW 10 12,297,369 (GRCm39) missense probably damaging 1.00
R5916:Utrn UTSW 10 12,540,795 (GRCm39) missense probably damaging 0.97
R5941:Utrn UTSW 10 12,362,227 (GRCm39) missense probably damaging 1.00
R6014:Utrn UTSW 10 12,566,620 (GRCm39) missense probably benign 0.01
R6015:Utrn UTSW 10 12,354,168 (GRCm39) missense possibly damaging 0.85
R6028:Utrn UTSW 10 12,530,460 (GRCm39) missense probably benign 0.00
R6158:Utrn UTSW 10 12,566,566 (GRCm39) missense probably benign 0.04
R6181:Utrn UTSW 10 12,615,200 (GRCm39) missense probably damaging 1.00
R6300:Utrn UTSW 10 12,377,220 (GRCm39) missense probably benign 0.35
R6367:Utrn UTSW 10 12,623,719 (GRCm39) missense probably damaging 1.00
R6377:Utrn UTSW 10 12,619,827 (GRCm39) missense probably damaging 1.00
R6434:Utrn UTSW 10 12,401,171 (GRCm39) missense probably damaging 1.00
R6498:Utrn UTSW 10 12,317,837 (GRCm39) missense probably benign
R6579:Utrn UTSW 10 12,623,750 (GRCm39) missense probably benign 0.05
R6704:Utrn UTSW 10 12,621,035 (GRCm39) missense probably damaging 0.99
R6736:Utrn UTSW 10 12,497,047 (GRCm39) missense probably benign 0.09
R6755:Utrn UTSW 10 12,574,831 (GRCm39) missense probably benign 0.00
R6793:Utrn UTSW 10 12,574,844 (GRCm39) missense possibly damaging 0.69
R6793:Utrn UTSW 10 12,516,669 (GRCm39) critical splice donor site probably null
R6835:Utrn UTSW 10 12,603,508 (GRCm39) missense probably damaging 1.00
R6919:Utrn UTSW 10 12,569,214 (GRCm39) nonsense probably null
R6920:Utrn UTSW 10 12,626,214 (GRCm39) missense probably damaging 0.98
R7037:Utrn UTSW 10 12,702,514 (GRCm39) splice site probably null
R7038:Utrn UTSW 10 12,558,082 (GRCm39) missense probably damaging 1.00
R7055:Utrn UTSW 10 12,623,665 (GRCm39) missense probably benign 0.23
R7072:Utrn UTSW 10 12,340,957 (GRCm39) missense probably damaging 1.00
R7090:Utrn UTSW 10 12,560,260 (GRCm39) missense possibly damaging 0.58
R7211:Utrn UTSW 10 12,277,079 (GRCm39) missense possibly damaging 0.72
R7248:Utrn UTSW 10 12,604,562 (GRCm39) missense possibly damaging 0.51
R7305:Utrn UTSW 10 12,261,280 (GRCm39) missense probably benign
R7334:Utrn UTSW 10 12,603,753 (GRCm39) splice site probably null
R7348:Utrn UTSW 10 12,623,762 (GRCm39) missense probably damaging 1.00
R7375:Utrn UTSW 10 12,516,764 (GRCm39) missense probably damaging 1.00
R7436:Utrn UTSW 10 12,315,535 (GRCm39) missense possibly damaging 0.72
R7476:Utrn UTSW 10 12,516,695 (GRCm39) missense probably benign
R7514:Utrn UTSW 10 12,573,833 (GRCm39) missense probably benign 0.00
R7527:Utrn UTSW 10 12,277,126 (GRCm39) missense possibly damaging 0.81
R7735:Utrn UTSW 10 12,619,787 (GRCm39) critical splice donor site probably null
R7748:Utrn UTSW 10 12,490,252 (GRCm39) missense probably benign 0.01
R7778:Utrn UTSW 10 12,362,354 (GRCm39) missense probably damaging 1.00
R7824:Utrn UTSW 10 12,362,354 (GRCm39) missense probably damaging 1.00
R7826:Utrn UTSW 10 12,277,050 (GRCm39) splice site probably null
R7872:Utrn UTSW 10 12,573,873 (GRCm39) missense probably benign
R7915:Utrn UTSW 10 12,340,956 (GRCm39) missense probably damaging 1.00
R7922:Utrn UTSW 10 12,543,271 (GRCm39) missense possibly damaging 0.68
R8081:Utrn UTSW 10 12,423,803 (GRCm39) start gained probably benign
R8132:Utrn UTSW 10 12,558,154 (GRCm39) missense probably damaging 0.99
R8167:Utrn UTSW 10 12,547,558 (GRCm39) nonsense probably null
R8186:Utrn UTSW 10 12,573,867 (GRCm39) missense probably benign
R8331:Utrn UTSW 10 12,490,363 (GRCm39) missense probably benign 0.00
R8352:Utrn UTSW 10 12,689,253 (GRCm39) missense probably benign 0.34
R8408:Utrn UTSW 10 12,545,887 (GRCm39) missense possibly damaging 0.69
R8452:Utrn UTSW 10 12,689,253 (GRCm39) missense probably benign 0.34
R8478:Utrn UTSW 10 12,524,892 (GRCm39) missense probably benign
R8489:Utrn UTSW 10 12,587,190 (GRCm39) missense probably benign 0.05
R8516:Utrn UTSW 10 12,362,254 (GRCm39) missense probably damaging 0.99
R8520:Utrn UTSW 10 12,545,930 (GRCm39) nonsense probably null
R8550:Utrn UTSW 10 12,689,329 (GRCm39) intron probably benign
R8856:Utrn UTSW 10 12,543,351 (GRCm39) missense probably benign
R8881:Utrn UTSW 10 12,423,737 (GRCm39) missense possibly damaging 0.46
R9180:Utrn UTSW 10 12,545,463 (GRCm39) missense probably damaging 1.00
R9186:Utrn UTSW 10 12,490,318 (GRCm39) missense probably benign
R9216:Utrn UTSW 10 12,689,229 (GRCm39) missense probably benign 0.19
R9251:Utrn UTSW 10 12,512,531 (GRCm39) missense probably benign 0.01
R9273:Utrn UTSW 10 12,509,707 (GRCm39) missense probably damaging 0.97
R9307:Utrn UTSW 10 12,554,475 (GRCm39) missense probably benign 0.02
R9344:Utrn UTSW 10 12,560,275 (GRCm39) missense probably benign 0.17
R9419:Utrn UTSW 10 12,564,125 (GRCm39) missense probably damaging 1.00
R9435:Utrn UTSW 10 12,519,173 (GRCm39) missense probably damaging 1.00
R9623:Utrn UTSW 10 12,282,225 (GRCm39) missense probably damaging 1.00
R9650:Utrn UTSW 10 12,613,929 (GRCm39) missense probably benign 0.00
R9653:Utrn UTSW 10 12,539,189 (GRCm39) missense probably benign 0.41
R9653:Utrn UTSW 10 12,497,123 (GRCm39) missense probably benign 0.17
R9672:Utrn UTSW 10 12,603,613 (GRCm39) missense possibly damaging 0.68
R9678:Utrn UTSW 10 12,615,159 (GRCm39) missense probably benign 0.00
R9741:Utrn UTSW 10 12,702,564 (GRCm39) missense probably benign
R9765:Utrn UTSW 10 12,610,921 (GRCm39) missense probably damaging 0.99
R9799:Utrn UTSW 10 12,585,736 (GRCm39) missense probably benign 0.01
RF009:Utrn UTSW 10 12,509,689 (GRCm39) nonsense probably null
V1662:Utrn UTSW 10 12,297,384 (GRCm39) missense probably damaging 1.00
X0018:Utrn UTSW 10 12,610,942 (GRCm39) missense probably damaging 1.00
Z1176:Utrn UTSW 10 12,564,173 (GRCm39) critical splice acceptor site probably null
Z1176:Utrn UTSW 10 12,558,104 (GRCm39) nonsense probably null
Z1177:Utrn UTSW 10 12,497,123 (GRCm39) missense probably benign 0.17
Z1177:Utrn UTSW 10 12,401,150 (GRCm39) nonsense probably null
Z1186:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1189:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1191:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Z1192:Utrn UTSW 10 12,545,491 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGGTTGTTTTCAGCAAGTG -3'
(R):5'- GCCATCGCTTTTAAATTGACACTG -3'

Sequencing Primer
(F):5'- GCCAGCCTGGTCTATAAAAAGAGTTC -3'
(R):5'- TGACACTGAGAAACATCATCTTGC -3'
Posted On 2014-09-18