Incidental Mutation 'IGL02601:Obsl1'
ID 300077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL02601
Quality Score
Status
Chromosome 1
Chromosomal Location 75462469-75483134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75466264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1488 (H1488R)
Ref Sequence ENSEMBL: ENSMUSP00000109197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050899] [ENSMUST00000113567] [ENSMUST00000113575]
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 benign
Transcript: ENSMUST00000113567
AA Change: H1488R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: H1488R

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: ENSMUST00000138352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156499
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably 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
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
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
Posted On 2015-04-16