Incidental Mutation 'R9497:Obsl1'
ID 717253
Institutional Source Beutler Lab
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R9497 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 75462469-75483134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75467484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1430 (C1430Y)
Ref Sequence ENSEMBL: ENSMUSP00000109197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113567]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000113567
AA Change: C1430Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: C1430Y

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: 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik A C 1: 85,973,893 (GRCm39) E70A possibly damaging Het
Abcb5 C A 12: 118,899,850 (GRCm39) Q272H probably damaging Het
Acoxl T C 2: 127,719,706 (GRCm39) Y156H probably damaging Het
Alg9 T C 9: 50,711,436 (GRCm39) F305L probably damaging Het
Apobec4 T C 1: 152,632,947 (GRCm39) V325A probably benign Het
Aqp9 T G 9: 71,069,651 (GRCm39) D46A probably benign Het
Atp13a4 T A 16: 29,288,130 (GRCm39) probably null Het
BC051019 A G 7: 109,315,466 (GRCm39) F263S probably damaging Het
Bicc1 A T 10: 70,776,828 (GRCm39) probably null Het
Birc2 G A 9: 7,861,028 (GRCm39) Q97* probably null Het
Capn13 G T 17: 73,633,362 (GRCm39) T533N probably benign Het
Casp6 G A 3: 129,699,559 (GRCm39) V13M probably benign Het
Cdh10 A T 15: 18,964,267 (GRCm39) E143V probably damaging Het
Cobl T A 11: 12,203,501 (GRCm39) Q1067L probably benign Het
Cr2 A G 1: 194,850,743 (GRCm39) V241A probably damaging Het
Cyp2c23 C T 19: 44,010,085 (GRCm39) V87M probably damaging Het
Cyp2j9 G A 4: 96,460,211 (GRCm39) Q431* probably null Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Cyp4a12b A T 4: 115,271,768 (GRCm39) M160L probably benign Het
Ddhd2 T A 8: 26,217,731 (GRCm39) K715N possibly damaging Het
Ecscr T C 18: 35,851,436 (GRCm39) Y32C probably damaging Het
Ednra A T 8: 78,446,934 (GRCm39) L48Q probably benign Het
Eya4 C T 10: 22,987,458 (GRCm39) probably null Het
F13a1 C A 13: 37,082,118 (GRCm39) V529L probably benign Het
Fam151b A T 13: 92,610,621 (GRCm39) I56K probably damaging Het
Fat3 A G 9: 15,903,504 (GRCm39) I2997T probably damaging Het
Fgfr2 A T 7: 129,765,763 (GRCm39) F817I probably damaging Het
Fras1 G T 5: 96,884,895 (GRCm39) C2591F probably damaging Het
Fryl T C 5: 73,215,134 (GRCm39) D2214G Het
Galntl6 A T 8: 58,290,410 (GRCm39) D394E probably damaging Het
Ggcx C A 6: 72,406,190 (GRCm39) N605K probably damaging Het
Gja5 A G 3: 96,958,801 (GRCm39) N286S Het
Gm4553 A T 7: 141,719,298 (GRCm39) C43* probably null Het
Gpr158 T C 2: 21,831,825 (GRCm39) V975A probably benign Het
Greb1l T A 18: 10,458,600 (GRCm39) D60E probably benign Het
Hao2 A T 3: 98,784,462 (GRCm39) L301H probably damaging Het
Hic1 A G 11: 75,060,131 (GRCm39) L72P possibly damaging Het
Hs3st5 A C 10: 36,709,370 (GRCm39) N302H probably benign Het
Htr1d A G 4: 136,169,663 (GRCm39) probably benign Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Kdm7a T C 6: 39,128,253 (GRCm39) D526G probably damaging Het
Kif5a T C 10: 127,079,353 (GRCm39) S282G probably damaging Het
Klhdc7b T C 15: 89,272,463 (GRCm39) V457A possibly damaging Het
Lcorl A G 5: 45,891,339 (GRCm39) V421A probably benign Het
Ltc4s A G 11: 50,127,386 (GRCm39) S150P unknown Het
Mdfic C T 6: 15,720,852 (GRCm39) R18W unknown Het
Mdfic T G 6: 15,770,508 (GRCm39) D171E probably benign Het
Meis2 T C 2: 115,694,724 (GRCm39) D473G possibly damaging Het
Mettl17 A T 14: 52,129,029 (GRCm39) Q433L unknown Het
Mettl25 T C 10: 105,677,090 (GRCm39) R31G probably damaging Het
Mroh2b T A 15: 4,950,845 (GRCm39) I581N probably damaging Het
Myh7 A T 14: 55,217,841 (GRCm39) N1091K probably benign Het
Mysm1 T C 4: 94,848,635 (GRCm39) D466G probably benign Het
Ncoa6 T C 2: 155,248,238 (GRCm39) T1689A probably damaging Het
Ndfip2 A G 14: 105,542,245 (GRCm39) T332A probably benign Het
Nfkbil1 G A 17: 35,439,605 (GRCm39) P303S probably damaging Het
Nfx1 T G 4: 40,994,104 (GRCm39) N604K probably benign Het
Npb T C 11: 120,499,473 (GRCm39) F47L probably benign Het
Nr2c2 C T 6: 92,133,673 (GRCm39) T259I possibly damaging Het
Nt5el G T 13: 105,236,987 (GRCm39) L79F probably damaging Het
Or10al5 T A 17: 38,062,942 (GRCm39) Y66N probably damaging Het
Or10b1 A G 10: 78,355,738 (GRCm39) I99V probably benign Het
Or10g6 A T 9: 39,934,616 (GRCm39) H309L probably benign Het
Or4d5 G A 9: 40,011,935 (GRCm39) P284S probably damaging Het
Or4n4b C T 14: 50,536,362 (GRCm39) V135I probably benign Het
Or6c202 C A 10: 128,996,464 (GRCm39) V130L probably benign Het
Or6f1 G A 7: 85,970,989 (GRCm39) T57M probably damaging Het
Pdcd6 A T 13: 74,453,695 (GRCm39) F148I probably damaging Het
Pih1d1 A T 7: 44,803,789 (GRCm39) Q16L unknown Het
Ppp1r10 T C 17: 36,235,786 (GRCm39) S123P probably damaging Het
Ppp1r13b A T 12: 111,807,446 (GRCm39) M305K probably benign Het
Prg2 A G 2: 84,811,685 (GRCm39) K2E possibly damaging Het
Prkd1 A T 12: 50,438,107 (GRCm39) probably null Het
Rfx7 T A 9: 72,526,423 (GRCm39) H1204Q probably benign Het
Serpina3k A C 12: 104,309,430 (GRCm39) Q291H probably benign Het
Tafa4 T A 6: 96,820,831 (GRCm39) I93F possibly damaging Het
Tas2r107 G T 6: 131,636,549 (GRCm39) Q167K probably benign Het
Tle1 A C 4: 72,071,135 (GRCm39) probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Trpa1 C T 1: 14,989,026 (GRCm39) E12K probably benign Het
Vmn2r7 T C 3: 64,614,474 (GRCm39) T447A probably benign Het
Wdr86 T C 5: 24,920,538 (GRCm39) Y283C probably benign Het
Zfp329 A T 7: 12,544,215 (GRCm39) Y436* probably null 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
R1439:Obsl1 UTSW 1 75,463,428 (GRCm39) nonsense probably null
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
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'- TTTGAGCAGGAGCCTTCTG -3'
(R):5'- TTCCCTTCCAGAGACAGAGC -3'

Sequencing Primer
(F):5'- TGGCTCTAACCCCAGATTGG -3'
(R):5'- CAGAGCTGCTGTTCTTGCG -3'
Posted On 2022-07-18