Incidental Mutation 'R1439:Obsl1'
ID 160819
Institutional Source Beutler Lab
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
MMRRC Submission 039494-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R1439 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75462469-75483134 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 75463428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 1755 (E1755*)
Ref Sequence ENSEMBL: ENSMUSP00000109197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050899] [ENSMUST00000113567] [ENSMUST00000113575] [ENSMUST00000148980] [ENSMUST00000187411]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050899
SMART Domains Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
Pfam:DUF4203 40 236 7.2e-51 PFAM
low complexity region 252 302 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113567
AA Change: E1755*
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: E1755*

DomainStartEndE-ValueType
IGc2 24 91 1.23e-12 SMART
IGc2 140 216 2.33e-13 SMART
IGc2 258 326 1.48e-6 SMART
IG 347 427 9.49e-5 SMART
IG 435 511 1.04e-1 SMART
FN3 518 601 6.6e-2 SMART
PDB:2E6Q|A 608 714 8e-57 PDB
Blast:IG_like 622 711 3e-50 BLAST
IG 723 804 3.79e-4 SMART
IG 814 893 2.58e-6 SMART
IGc2 911 977 1.12e-6 SMART
IG 996 1075 1.27e-5 SMART
IGc2 1094 1160 4.07e-4 SMART
IGc2 1186 1252 9.49e-5 SMART
IG 1274 1353 7.41e-7 SMART
IG 1363 1444 1.15e-3 SMART
IG 1454 1533 8.33e-1 SMART
IGc2 1549 1615 8.72e-4 SMART
IG 1633 1712 1e-3 SMART
IG 1723 1802 3.82e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113575
SMART Domains Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
Pfam:DUF4203 39 237 2.2e-59 PFAM
low complexity region 252 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132252
SMART Domains Protein: ENSMUSP00000117420
Gene: ENSMUSG00000026211

DomainStartEndE-ValueType
IG_like 1 59 2.8e-1 SMART
IGc2 85 151 9.49e-5 SMART
IG 175 254 2.64e-3 SMART
IG 265 344 7.41e-7 SMART
Blast:IG 354 417 4e-35 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145382
Predicted Effect probably benign
Transcript: ENSMUST00000148980
SMART Domains Protein: ENSMUSP00000116977
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:DUF4203 119 150 6.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156705
Predicted Effect probably benign
Transcript: ENSMUST00000155084
SMART Domains Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211

DomainStartEndE-ValueType
SCOP:d1g1ca_ 2 32 1e-3 SMART
IGc2 64 132 1.48e-6 SMART
IG 153 233 9.49e-5 SMART
IG 241 317 1.04e-1 SMART
FN3 324 407 6.6e-2 SMART
PDB:2E6Q|A 414 520 4e-57 PDB
Blast:IG_like 428 517 2e-50 BLAST
IG 529 610 3.79e-4 SMART
IG 620 699 2.58e-6 SMART
IGc2 717 783 1.12e-6 SMART
IG 802 881 1.27e-5 SMART
IGc2 900 966 4.07e-4 SMART
IGc2 992 1058 9.49e-5 SMART
IG 1080 1159 7.41e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187411
SMART Domains Protein: ENSMUSP00000140795
Gene: ENSMUSG00000051703

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
Pfam:DUF4203 101 142 6.9e-10 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,770,908 (GRCm39) N499S probably damaging Het
AI661453 C A 17: 47,777,587 (GRCm39) probably benign Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Alkbh1 A G 12: 87,475,915 (GRCm39) V289A probably damaging Het
Bnc2 C T 4: 84,194,305 (GRCm39) E1035K probably benign Het
C1s2 T A 6: 124,607,126 (GRCm39) probably benign Het
Cabin1 A G 10: 75,492,640 (GRCm39) I1885T probably damaging Het
Col22a1 A G 15: 71,824,226 (GRCm39) probably benign Het
Cpne4 A T 9: 104,866,831 (GRCm39) T248S probably damaging Het
Cracd T C 5: 76,988,757 (GRCm39) V36A probably damaging Het
Cubn T C 2: 13,292,379 (GRCm39) N3268S probably damaging Het
Ddx10 T A 9: 53,151,787 (GRCm39) K79N probably damaging Het
Dennd1a A C 2: 37,933,412 (GRCm39) L131R probably damaging Het
Dnah9 T C 11: 65,764,958 (GRCm39) Y3862C probably benign Het
Eif3e A G 15: 43,141,824 (GRCm39) probably benign Het
Emsy T C 7: 98,250,048 (GRCm39) probably benign Het
Ep400 A T 5: 110,833,344 (GRCm39) D1959E unknown Het
Fpr-rs7 A G 17: 20,333,869 (GRCm39) I207T probably benign Het
Fubp3 C A 2: 31,488,563 (GRCm39) L140I probably damaging Het
Gas2l2 T C 11: 83,318,298 (GRCm39) D137G probably damaging Het
Git1 G T 11: 77,397,244 (GRCm39) R699L possibly damaging Het
Gnao1 T A 8: 94,690,065 (GRCm39) F27L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Itga6 T G 2: 71,664,378 (GRCm39) Y505D probably damaging Het
Itgad A T 7: 127,782,178 (GRCm39) T205S probably benign Het
Jakmip3 A T 7: 138,631,375 (GRCm39) Y574F probably benign Het
Laptm5 G T 4: 130,653,520 (GRCm39) probably benign Het
Mlana A T 19: 29,684,252 (GRCm39) R71S probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mus81 G C 19: 5,535,145 (GRCm39) R295G probably benign Het
Ncapd3 T A 9: 26,998,862 (GRCm39) probably null Het
Nectin1 A G 9: 43,703,396 (GRCm39) E218G possibly damaging Het
Nectin3 A T 16: 46,268,757 (GRCm39) Y548* probably null Het
Nif3l1 T C 1: 58,487,102 (GRCm39) F96S probably damaging Het
Ntrk1 A G 3: 87,696,918 (GRCm39) probably null Het
Or4p23 T C 2: 88,577,178 (GRCm39) E18G possibly damaging Het
Osbpl9 T C 4: 108,958,353 (GRCm39) D74G probably damaging Het
Osgin1 T A 8: 120,169,852 (GRCm39) probably null Het
Otogl A G 10: 107,615,113 (GRCm39) Y1931H probably benign Het
Pmepa1 A G 2: 173,069,874 (GRCm39) I227T probably benign Het
Pprc1 T A 19: 46,052,175 (GRCm39) N564K possibly damaging Het
Prkaa1 T C 15: 5,194,225 (GRCm39) F92S probably damaging Het
Ptprd A G 4: 75,984,437 (GRCm39) F811L probably damaging Het
Rad54b A G 4: 11,606,152 (GRCm39) K520R possibly damaging Het
Rbfox1 A G 16: 7,148,297 (GRCm39) T269A possibly damaging Het
Rfwd3 T C 8: 112,004,920 (GRCm39) Y554C probably damaging Het
Rfx2 A T 17: 57,094,720 (GRCm39) V208E probably damaging Het
Rgs22 G T 15: 36,025,939 (GRCm39) probably benign Het
Rrbp1 A G 2: 143,797,032 (GRCm39) probably null Het
Ryr2 C T 13: 11,729,389 (GRCm39) probably benign Het
Sbno1 A G 5: 124,522,523 (GRCm39) probably benign Het
Secisbp2 T C 13: 51,833,759 (GRCm39) probably benign Het
Sgsm2 C A 11: 74,759,964 (GRCm39) R58L probably benign Het
Slc25a36 A C 9: 96,975,126 (GRCm39) probably benign Het
Spink4 A G 4: 40,929,121 (GRCm39) T49A possibly damaging Het
Steap3 A T 1: 120,155,550 (GRCm39) F470I probably damaging Het
Stk10 A G 11: 32,567,919 (GRCm39) Q907R probably damaging Het
Tdrd5 A G 1: 156,105,057 (GRCm39) V446A probably damaging Het
Tmem117 G A 15: 94,992,478 (GRCm39) M379I probably benign Het
Trappc12 A G 12: 28,797,160 (GRCm39) L124P possibly damaging Het
Trim9 G A 12: 70,297,867 (GRCm39) H613Y probably damaging Het
Trio A G 15: 27,898,000 (GRCm39) W371R probably damaging Het
Ulk4 G C 9: 121,095,324 (GRCm39) H110D possibly damaging Het
Upb1 T C 10: 75,275,776 (GRCm39) V387A probably benign Het
Utrn A T 10: 12,619,793 (GRCm39) I284N possibly damaging Het
Vmn2r111 C A 17: 22,790,097 (GRCm39) W303L probably benign Het
Vmn2r15 G T 5: 109,441,953 (GRCm39) P160Q probably damaging Het
Wdtc1 A G 4: 133,029,118 (GRCm39) S323P probably benign Het
Zfp846 T A 9: 20,505,393 (GRCm39) C418S possibly damaging Het
Zfyve26 G T 12: 79,298,937 (GRCm39) P441Q probably benign Het
Other mutations in Obsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Obsl1 APN 1 75,467,518 (GRCm39) missense probably benign 0.02
IGL01111:Obsl1 APN 1 75,473,789 (GRCm39) missense possibly damaging 0.62
IGL01140:Obsl1 APN 1 75,466,400 (GRCm39) unclassified probably benign
IGL02149:Obsl1 APN 1 75,480,464 (GRCm39) missense probably damaging 1.00
IGL02225:Obsl1 APN 1 75,480,442 (GRCm39) missense probably damaging 0.99
IGL02269:Obsl1 APN 1 75,464,357 (GRCm39) missense probably damaging 0.97
IGL02296:Obsl1 APN 1 75,474,793 (GRCm39) missense possibly damaging 0.94
IGL02386:Obsl1 APN 1 75,469,161 (GRCm39) missense probably damaging 1.00
IGL02408:Obsl1 APN 1 75,481,890 (GRCm39) missense probably damaging 0.98
IGL02601:Obsl1 APN 1 75,466,264 (GRCm39) missense probably benign
IGL03053:Obsl1 APN 1 75,469,723 (GRCm39) missense probably benign
IGL03181:Obsl1 APN 1 75,469,228 (GRCm39) missense probably benign 0.00
IGL03402:Obsl1 APN 1 75,463,443 (GRCm39) missense probably benign 0.00
Jude UTSW 1 75,474,877 (GRCm39) missense probably damaging 1.00
PIT1430001:Obsl1 UTSW 1 75,482,811 (GRCm39) missense probably damaging 1.00
PIT4382001:Obsl1 UTSW 1 75,464,607 (GRCm39) missense probably benign 0.06
R0281:Obsl1 UTSW 1 75,469,571 (GRCm39) missense probably damaging 1.00
R1343:Obsl1 UTSW 1 75,469,223 (GRCm39) missense probably damaging 1.00
R1394:Obsl1 UTSW 1 75,469,309 (GRCm39) missense probably damaging 0.96
R1395:Obsl1 UTSW 1 75,469,309 (GRCm39) missense probably damaging 0.96
R1456:Obsl1 UTSW 1 75,464,300 (GRCm39) nonsense probably null
R1728:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1729:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1730:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1739:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1757:Obsl1 UTSW 1 75,470,527 (GRCm39) missense probably benign
R1762:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1783:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1784:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1785:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R1851:Obsl1 UTSW 1 75,469,537 (GRCm39) missense probably damaging 1.00
R1864:Obsl1 UTSW 1 75,469,753 (GRCm39) missense probably benign 0.01
R1873:Obsl1 UTSW 1 75,474,877 (GRCm39) missense probably damaging 1.00
R1875:Obsl1 UTSW 1 75,474,877 (GRCm39) missense probably damaging 1.00
R1980:Obsl1 UTSW 1 75,482,480 (GRCm39) missense probably damaging 1.00
R1985:Obsl1 UTSW 1 75,482,244 (GRCm39) missense probably damaging 1.00
R2049:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R2069:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R2122:Obsl1 UTSW 1 75,470,527 (GRCm39) missense probably benign
R2141:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R2142:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
R2184:Obsl1 UTSW 1 75,478,861 (GRCm39) missense probably benign 0.26
R2267:Obsl1 UTSW 1 75,482,342 (GRCm39) missense probably damaging 1.00
R2883:Obsl1 UTSW 1 75,473,155 (GRCm39) missense possibly damaging 0.73
R3079:Obsl1 UTSW 1 75,467,467 (GRCm39) missense probably damaging 1.00
R3749:Obsl1 UTSW 1 75,474,890 (GRCm39) missense probably benign
R4002:Obsl1 UTSW 1 75,476,743 (GRCm39) missense possibly damaging 0.90
R4365:Obsl1 UTSW 1 75,464,693 (GRCm39) missense possibly damaging 0.91
R4366:Obsl1 UTSW 1 75,464,693 (GRCm39) missense possibly damaging 0.91
R4414:Obsl1 UTSW 1 75,467,546 (GRCm39) missense probably benign 0.00
R4700:Obsl1 UTSW 1 75,480,085 (GRCm39) missense probably damaging 1.00
R4799:Obsl1 UTSW 1 75,466,145 (GRCm39) missense possibly damaging 0.93
R5081:Obsl1 UTSW 1 75,464,607 (GRCm39) missense possibly damaging 0.49
R5389:Obsl1 UTSW 1 75,479,905 (GRCm39) intron probably benign
R5757:Obsl1 UTSW 1 75,469,699 (GRCm39) missense probably damaging 0.98
R5890:Obsl1 UTSW 1 75,470,503 (GRCm39) missense probably damaging 1.00
R5946:Obsl1 UTSW 1 75,467,851 (GRCm39) missense probably damaging 0.96
R6005:Obsl1 UTSW 1 75,468,859 (GRCm39) splice site probably null
R6118:Obsl1 UTSW 1 75,468,722 (GRCm39) intron probably benign
R6154:Obsl1 UTSW 1 75,476,788 (GRCm39) missense probably benign 0.19
R6317:Obsl1 UTSW 1 75,466,273 (GRCm39) missense possibly damaging 0.50
R6379:Obsl1 UTSW 1 75,479,787 (GRCm39) missense probably damaging 1.00
R6387:Obsl1 UTSW 1 75,468,006 (GRCm39) missense probably benign 0.03
R7084:Obsl1 UTSW 1 75,464,394 (GRCm39) missense probably benign
R7123:Obsl1 UTSW 1 75,466,313 (GRCm39) missense probably damaging 1.00
R7202:Obsl1 UTSW 1 75,466,360 (GRCm39) missense possibly damaging 0.94
R7291:Obsl1 UTSW 1 75,466,161 (GRCm39) missense probably damaging 0.98
R7305:Obsl1 UTSW 1 75,470,590 (GRCm39) nonsense probably null
R7366:Obsl1 UTSW 1 75,479,608 (GRCm39) missense probably damaging 1.00
R7402:Obsl1 UTSW 1 75,464,348 (GRCm39) missense probably benign
R7474:Obsl1 UTSW 1 75,474,828 (GRCm39) missense probably benign 0.00
R7611:Obsl1 UTSW 1 75,482,024 (GRCm39) missense probably damaging 0.96
R7672:Obsl1 UTSW 1 75,469,365 (GRCm39) missense probably benign 0.18
R7715:Obsl1 UTSW 1 75,478,680 (GRCm39) missense probably damaging 0.99
R7762:Obsl1 UTSW 1 75,480,167 (GRCm39) missense probably benign
R8005:Obsl1 UTSW 1 75,482,096 (GRCm39) missense probably damaging 1.00
R8012:Obsl1 UTSW 1 75,469,317 (GRCm39) missense probably benign 0.12
R8379:Obsl1 UTSW 1 75,480,501 (GRCm39) missense possibly damaging 0.92
R8381:Obsl1 UTSW 1 75,480,501 (GRCm39) missense possibly damaging 0.92
R8383:Obsl1 UTSW 1 75,480,501 (GRCm39) missense possibly damaging 0.92
R8396:Obsl1 UTSW 1 75,480,350 (GRCm39) missense probably benign 0.01
R8465:Obsl1 UTSW 1 75,480,032 (GRCm39) missense probably damaging 1.00
R8506:Obsl1 UTSW 1 75,482,300 (GRCm39) missense probably benign 0.00
R8710:Obsl1 UTSW 1 75,469,326 (GRCm39) missense probably benign
R8877:Obsl1 UTSW 1 75,473,167 (GRCm39) nonsense probably null
R8903:Obsl1 UTSW 1 75,463,917 (GRCm39) missense possibly damaging 0.65
R8913:Obsl1 UTSW 1 75,467,892 (GRCm39) missense probably benign 0.00
R8924:Obsl1 UTSW 1 75,482,841 (GRCm39) missense probably benign 0.00
R8955:Obsl1 UTSW 1 75,480,493 (GRCm39) missense probably damaging 1.00
R9008:Obsl1 UTSW 1 75,482,027 (GRCm39) missense probably benign
R9121:Obsl1 UTSW 1 75,482,636 (GRCm39) missense possibly damaging 0.93
R9295:Obsl1 UTSW 1 75,476,721 (GRCm39) missense probably damaging 1.00
R9362:Obsl1 UTSW 1 75,482,391 (GRCm39) missense probably benign 0.01
R9367:Obsl1 UTSW 1 75,466,177 (GRCm39) missense probably benign 0.18
R9459:Obsl1 UTSW 1 75,474,884 (GRCm39) missense probably benign 0.16
R9496:Obsl1 UTSW 1 75,467,484 (GRCm39) missense probably damaging 1.00
R9497:Obsl1 UTSW 1 75,467,484 (GRCm39) missense probably damaging 1.00
R9498:Obsl1 UTSW 1 75,467,484 (GRCm39) missense probably damaging 1.00
R9502:Obsl1 UTSW 1 75,466,267 (GRCm39) missense probably damaging 0.98
R9546:Obsl1 UTSW 1 75,482,030 (GRCm39) missense probably damaging 0.98
R9550:Obsl1 UTSW 1 75,474,910 (GRCm39) missense possibly damaging 0.95
R9561:Obsl1 UTSW 1 75,480,157 (GRCm39) missense possibly damaging 0.86
R9687:Obsl1 UTSW 1 75,479,670 (GRCm39) missense probably damaging 1.00
V8831:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
X0061:Obsl1 UTSW 1 75,463,412 (GRCm39) missense probably benign
Z1088:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
Z1176:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
Z1177:Obsl1 UTSW 1 75,467,656 (GRCm39) missense possibly damaging 0.95
Z1177:Obsl1 UTSW 1 75,486,756 (GRCm38) missense probably benign
Z1177:Obsl1 UTSW 1 75,480,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACCTTGAGTGTGATCTCTCCCG -3'
(R):5'- GTGCGTGTCCTTATTAAGCCCCTG -3'

Sequencing Primer
(F):5'- CATAGGTATAGCTCGGCACTG -3'
(R):5'- ATTAAGCCCCTGTCCCCC -3'
Posted On 2014-03-14