Incidental Mutation 'R7715:Obsl1'
ID 594826
Institutional Source Beutler Lab
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
MMRRC Submission 045773-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R7715 (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 T at 75478680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 686 (V686D)
Ref Sequence ENSEMBL: ENSMUSP00000109197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113565] [ENSMUST00000113567]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000113565
AA Change: V686D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: V686D

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 damaging
Transcript: ENSMUST00000113567
AA Change: V686D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: V686D

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: V491D

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,659 (GRCm39) F57L probably benign Het
Agl C T 3: 116,551,905 (GRCm39) R563Q Het
Ahctf1 A G 1: 179,598,413 (GRCm39) M919T probably benign Het
Ano4 A T 10: 88,831,173 (GRCm39) N483K probably damaging Het
Armt1 A G 10: 4,400,751 (GRCm39) K166R probably benign Het
Asgr2 T C 11: 69,987,721 (GRCm39) V73A probably benign Het
Atp6v0a2 A C 5: 124,791,262 (GRCm39) T564P probably damaging Het
B3gntl1 T C 11: 121,530,622 (GRCm39) T150A possibly damaging Het
Bach1 A G 16: 87,516,859 (GRCm39) I467V possibly damaging Het
Bicd1 A G 6: 149,414,471 (GRCm39) K395E probably benign Het
Cadps G A 14: 12,457,762 (GRCm38) P1040S probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Canx A G 11: 50,201,631 (GRCm39) S80P probably benign Het
Ccdc149 T A 5: 52,561,533 (GRCm39) probably null Het
Cd34 A T 1: 194,631,624 (GRCm39) N87Y probably damaging Het
Cdh11 T A 8: 103,391,346 (GRCm39) I297F possibly damaging Het
Cfap251 A G 5: 123,400,197 (GRCm39) N439D probably damaging Het
Cip2a A T 16: 48,834,347 (GRCm39) Q643L probably damaging Het
Col14a1 A G 15: 55,351,379 (GRCm39) I1569V unknown Het
Cxcr4 C T 1: 128,517,479 (GRCm39) V61M probably damaging Het
Cyp20a1 G A 1: 60,411,764 (GRCm39) V271M probably benign Het
Cyp2b23 T C 7: 26,381,120 (GRCm39) Y79C probably benign Het
Daam1 A G 12: 72,035,675 (GRCm39) K957E probably benign Het
Dip2c A G 13: 9,664,427 (GRCm39) K947E probably damaging Het
Efcab12 T C 6: 115,800,504 (GRCm39) K173R possibly damaging Het
Emc1 C T 4: 139,098,934 (GRCm39) R806C probably damaging Het
Epg5 G A 18: 78,011,801 (GRCm39) R816Q probably damaging Het
Faf1 G T 4: 109,568,011 (GRCm39) D24Y probably damaging Het
Fchsd1 A T 18: 38,099,695 (GRCm39) probably null Het
Foxp1 T C 6: 98,922,621 (GRCm39) T404A unknown Het
Fra10ac1 T C 19: 38,178,286 (GRCm39) E299G probably damaging Het
Gon4l A G 3: 88,815,313 (GRCm39) T1959A probably benign Het
Gpam A C 19: 55,077,353 (GRCm39) V146G probably benign Het
Hephl1 T A 9: 14,972,081 (GRCm39) D953V probably benign Het
Kcnc2 G T 10: 112,107,845 (GRCm39) E79* probably null Het
Kcnj12 T A 11: 60,957,778 (GRCm39) probably null Het
Llgl2 A T 11: 115,740,554 (GRCm39) T417S probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Macc1 C T 12: 119,409,991 (GRCm39) A253V possibly damaging Het
Mark1 A G 1: 184,639,431 (GRCm39) S529P probably damaging Het
Mfsd6l T C 11: 68,448,376 (GRCm39) L409P probably damaging Het
Nek1 A G 8: 61,459,794 (GRCm39) E34G probably damaging Het
Nlrp3 T A 11: 59,433,829 (GRCm39) probably null Het
Or2l5 C T 16: 19,333,480 (GRCm39) R302K probably benign Het
Or55b10 T A 7: 102,143,668 (GRCm39) M105L possibly damaging Het
Or7h8 G A 9: 20,123,731 (GRCm39) G29R probably damaging Het
Or7h8 G A 9: 20,123,732 (GRCm39) G29E probably benign Het
Or8c15 T A 9: 38,120,775 (GRCm39) M140K probably benign Het
Or8g18 A T 9: 39,149,174 (GRCm39) L182H probably damaging Het
Ostm1 G A 10: 42,559,183 (GRCm39) G148R probably benign Het
Oxsr1 A G 9: 119,071,822 (GRCm39) S470P probably damaging Het
Pacs1 C T 19: 5,191,709 (GRCm39) M709I probably benign Het
Pan2 A G 10: 128,153,592 (GRCm39) M963V probably benign Het
Pds5a A G 5: 65,795,904 (GRCm39) L662P possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sh2b2 T C 5: 136,247,889 (GRCm39) N554S probably benign Het
Sh3gl2 T A 4: 85,317,077 (GRCm39) probably null Het
Slc24a4 A G 12: 102,185,219 (GRCm39) M93V possibly damaging Het
Sohlh1 A G 2: 25,734,640 (GRCm39) S218P possibly damaging Het
Spast T A 17: 74,675,921 (GRCm39) N321K probably benign Het
Srcap T G 7: 127,148,460 (GRCm39) I1936S probably damaging Het
Themis G A 10: 28,739,305 (GRCm39) V592I probably benign Het
Tnfrsf1a C T 6: 125,338,377 (GRCm39) T296I possibly damaging Het
Ttk A G 9: 83,747,206 (GRCm39) T682A probably benign Het
Virma C T 4: 11,549,682 (GRCm39) R1807W probably damaging Het
Virma A G 4: 11,513,016 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,177 (GRCm39) D724E probably damaging Het
Vmn2r11 A G 5: 109,195,307 (GRCm39) V673A probably damaging Het
Wbp4 C T 14: 79,703,734 (GRCm39) S271N 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
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
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'- CTCTATCTGAGCCCATCATGAAC -3'
(R):5'- ACGTGCAGGTATATGATGGG -3'

Sequencing Primer
(F):5'- TATCTGAGCCCATCATGAACACCTC -3'
(R):5'- TATATGATGGGGAAGATGCCGTC -3'
Posted On 2019-11-12