Incidental Mutation 'R9008:Obsl1'
ID 685396
Institutional Source Beutler Lab
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
MMRRC Submission 068838-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R9008 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 75462469-75483134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 75482027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 281 (L281W)
Ref Sequence ENSEMBL: ENSMUSP00000109197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037330] [ENSMUST00000113565] [ENSMUST00000113567]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037330
SMART Domains Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 189 199 N/A INTRINSIC
TGFB 263 366 1.58e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113565
AA Change: L281W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: L281W

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 5e-57 PDB
Blast:IG_like 622 711 2e-50 BLAST
IG 723 804 3.79e-4 SMART
IG 814 893 2.58e-6 SMART
IGc2 911 977 1.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113567
AA Change: L281W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: L281W

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
SMART Domains Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: L86W

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: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,849,162 (GRCm39) S536R probably damaging Het
Acacb G A 5: 114,386,815 (GRCm39) silent Het
Acsm1 T C 7: 119,258,325 (GRCm39) Y473H probably benign Het
Adam30 T A 3: 98,070,034 (GRCm39) C622* probably null Het
Adprs C T 4: 126,210,632 (GRCm39) V283M probably damaging Het
AI606181 G T 19: 41,582,032 (GRCm39) R67S unknown Het
Btbd3 A G 2: 138,125,453 (GRCm39) I212M probably benign Het
C1s1 C T 6: 124,509,499 (GRCm39) probably null Het
C7 T A 15: 5,040,409 (GRCm39) T539S Het
Cd5l A C 3: 87,275,972 (GRCm39) D314A probably damaging Het
Celsr3 T A 9: 108,706,151 (GRCm39) V878E possibly damaging Het
Cfap74 T C 4: 155,503,121 (GRCm39) S38P Het
Chst2 C T 9: 95,288,347 (GRCm39) probably benign Het
Deaf1 T C 7: 140,904,078 (GRCm39) T103A probably damaging Het
Deup1 T A 9: 15,511,140 (GRCm39) D213V probably damaging Het
Dhrs1 A G 14: 55,978,638 (GRCm39) probably null Het
Dnah7a A G 1: 53,701,501 (GRCm39) V218A possibly damaging Het
Dock7 G A 4: 98,833,448 (GRCm39) Q1950* probably null Het
Ehf G A 2: 103,097,173 (GRCm39) R283W Het
Elovl3 A T 19: 46,123,087 (GRCm39) N221I possibly damaging Het
Gm11938 A T 11: 99,493,966 (GRCm39) V43E probably damaging Het
Hmcn1 T C 1: 150,630,795 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,096 (GRCm39) N115S probably benign Het
Hnrnpr A T 4: 136,056,737 (GRCm39) N246Y probably damaging Het
Itpka A G 2: 119,579,894 (GRCm39) E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,855,211 (GRCm39) probably benign Het
Lcorl A T 5: 45,931,516 (GRCm39) probably benign Het
Lypd9 T A 11: 58,338,209 (GRCm39) E61V probably benign Het
Mgat5 T C 1: 127,407,308 (GRCm39) I658T probably damaging Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mov10 A G 3: 104,707,332 (GRCm39) Y606H probably benign Het
Naa38 T G 11: 69,287,148 (GRCm39) V76G probably damaging Het
Nelfe C A 17: 35,073,334 (GRCm39) P290T possibly damaging Het
Nfil3 A T 13: 53,121,609 (GRCm39) Y432N probably damaging Het
Nipbl T C 15: 8,356,608 (GRCm39) K1593E probably damaging Het
Nlrc3 G C 16: 3,776,807 (GRCm39) L56V possibly damaging Het
Nlrp1a A T 11: 71,014,735 (GRCm39) F172I possibly damaging Het
Ntn4 T A 10: 93,569,466 (GRCm39) probably benign Het
Nudt2 G A 4: 41,480,288 (GRCm39) R57Q probably damaging Het
Olfm4 A T 14: 80,255,607 (GRCm39) N250I unknown Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or2m13 T A 16: 19,226,173 (GRCm39) I198F probably benign Het
Or2r2 T C 6: 42,463,903 (GRCm39) S75G probably damaging Het
Or5p50 A G 7: 107,422,628 (GRCm39) I16T possibly damaging Het
Pappa A T 4: 65,074,426 (GRCm39) T327S probably damaging Het
Pcdhb4 T G 18: 37,440,714 (GRCm39) M8R probably benign Het
Phf21b T A 15: 84,671,563 (GRCm39) I444F probably damaging Het
Pkd1l2 A C 8: 117,769,037 (GRCm39) V1205G probably benign Het
Plec T C 15: 76,060,232 (GRCm39) Y3235C probably damaging Het
Pnmt C T 11: 98,278,832 (GRCm39) T266I possibly damaging Het
Ppfia2 T A 10: 106,655,220 (GRCm39) D262E probably benign Het
Rabggta A T 14: 55,955,913 (GRCm39) L448Q probably damaging Het
Rap1gds1 C T 3: 138,661,177 (GRCm39) R449H probably benign Het
Rictor T A 15: 6,801,610 (GRCm39) probably benign Het
Rttn T C 18: 89,027,556 (GRCm39) F557S probably damaging Het
Ryr3 A G 2: 112,465,748 (GRCm39) C4809R probably damaging Het
Sacs A C 14: 61,441,992 (GRCm39) D1346A probably benign Het
Slain1 T A 14: 103,923,191 (GRCm39) S261T probably damaging Het
Slc22a4 C T 11: 53,881,664 (GRCm39) W351* probably null Het
Smpd3 C T 8: 106,984,058 (GRCm39) G554S probably benign Het
Spag17 C T 3: 99,934,942 (GRCm39) S716F possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spg11 C T 2: 121,900,413 (GRCm39) M1546I probably benign Het
Spmip11 T G 15: 98,486,493 (GRCm39) S88A possibly damaging Het
Stac3 C T 10: 127,339,454 (GRCm39) L117F probably damaging Het
Surf6 A G 2: 26,782,536 (GRCm39) W264R probably damaging Het
Taar7e T C 10: 23,913,810 (GRCm39) V100A probably damaging Het
Tenm3 T C 8: 48,795,688 (GRCm39) H534R probably damaging Het
Tinagl1 C A 4: 130,067,823 (GRCm39) R57L probably damaging Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Traf6 A G 2: 101,527,333 (GRCm39) Y361C possibly damaging Het
Ttn A T 2: 76,777,334 (GRCm39) probably benign Het
Ufl1 A T 4: 25,254,778 (GRCm39) Y559* probably null Het
Upk1b A T 16: 38,607,570 (GRCm39) N52K probably damaging Het
Uqcrb A G 13: 67,053,363 (GRCm39) S5P probably benign Het
Use1 A G 8: 71,819,688 (GRCm39) Y3C unknown Het
Usp9y T A Y: 1,434,993 (GRCm39) I279L possibly damaging Het
Vmn1r142 A G 7: 21,862,796 (GRCm39) L222P probably damaging Het
Vmn1r184 A C 7: 25,967,177 (GRCm39) N308H probably benign Het
Vmn2r14 C A 5: 109,367,893 (GRCm39) M366I probably benign Het
Vmn2r73 G T 7: 85,521,904 (GRCm39) S145Y probably damaging Het
Wdfy1 A T 1: 79,692,697 (GRCm39) W207R probably damaging Het
Zbtb38 A T 9: 96,569,100 (GRCm39) N661K probably benign Het
Zkscan3 G T 13: 21,572,383 (GRCm39) H416Q possibly damaging 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
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'- ACCTTTCACGTGCAGCTGG -3'
(R):5'- AGCCACTTCAAGCTGGAGC -3'

Sequencing Primer
(F):5'- AGCTGGACCGCGCTTAG -3'
(R):5'- TGACGTTGCGCATCCTG -3'
Posted On 2021-10-11