Incidental Mutation 'R8903:Obsl1'
ID 678278
Institutional Source Beutler Lab
Gene Symbol Obsl1
Ensembl Gene ENSMUSG00000026211
Gene Name obscurin-like 1
Synonyms
MMRRC Submission 068760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R8903 (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 G at 75463917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1696 (V1696A)
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 possibly damaging
Transcript: ENSMUST00000113567
AA Change: V1696A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: V1696A

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 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,815,526 (GRCm39) F258S probably damaging Het
Abca3 A G 17: 24,602,959 (GRCm39) Y518C probably damaging Het
Ank2 A T 3: 126,840,431 (GRCm39) N274K probably damaging Het
Ankrd31 C T 13: 96,969,329 (GRCm39) L989F probably damaging Het
Ano6 A G 15: 95,825,463 (GRCm39) R354G probably benign Het
Ano8 T C 8: 71,934,834 (GRCm39) probably null Het
Arfgef1 T C 1: 10,211,838 (GRCm39) Y1735C probably damaging Het
B3gnt8 G A 7: 25,328,659 (GRCm39) G363D probably benign Het
Calcrl T C 2: 84,203,729 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,726 (GRCm39) D782V unknown Het
Ccdc162 A G 10: 41,531,440 (GRCm39) probably null Het
Cdkal1 A T 13: 29,809,918 (GRCm39) *219R probably null Het
Clcnkb A T 4: 141,135,160 (GRCm39) V526D possibly damaging Het
Cnbp A T 6: 87,821,074 (GRCm39) C162S probably damaging Het
Coq2 A G 5: 100,811,656 (GRCm39) probably benign Het
D6Wsu163e T A 6: 126,931,778 (GRCm39) L270Q probably damaging Het
Dennd10 C T 19: 60,823,423 (GRCm39) Q353* probably null Het
Dnhd1 C T 7: 105,362,855 (GRCm39) Q3806* probably null Het
Eepd1 T C 9: 25,394,518 (GRCm39) F261L probably benign Het
Fes C T 7: 80,036,559 (GRCm39) probably benign Het
Fsip2 T A 2: 82,807,681 (GRCm39) D1333E possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm5113 T C 7: 29,878,292 (GRCm39) F127L probably benign Het
Grk3 A G 5: 113,066,697 (GRCm39) S596P possibly damaging Het
Gsk3a A G 7: 24,936,814 (GRCm39) V91A possibly damaging Het
Gss T C 2: 155,420,279 (GRCm39) K141E probably damaging Het
Il1rl2 A T 1: 40,366,530 (GRCm39) probably null Het
Kcnmb1 A G 11: 33,914,825 (GRCm39) Y42C probably damaging Het
Krtap16-1 A T 11: 99,877,170 (GRCm39) I78N probably damaging Het
Lrp2 C T 2: 69,379,382 (GRCm39) S110N possibly damaging Het
Lrrfip1 T A 1: 91,012,781 (GRCm39) probably benign Het
Magel2 G T 7: 62,029,441 (GRCm39) A782S unknown Het
Map1b C A 13: 99,569,017 (GRCm39) E1235* probably null Het
Mcpt1 A C 14: 56,257,520 (GRCm39) H222P probably benign Het
Met T A 6: 17,549,137 (GRCm39) N996K probably benign Het
Mia C A 7: 26,880,230 (GRCm39) Q52H probably damaging Het
Mia T A 7: 26,880,231 (GRCm39) Q52L possibly damaging Het
Myh7 T A 14: 55,230,228 (GRCm39) K35* probably null Het
Myt1l T A 12: 29,861,468 (GRCm39) D83E unknown Het
Nbl1 A G 4: 138,810,861 (GRCm39) V111A probably damaging Het
Nid1 T A 13: 13,638,515 (GRCm39) V145D probably benign Het
Nif3l1 C T 1: 58,486,653 (GRCm39) probably benign Het
Npnt T C 3: 132,591,764 (GRCm39) Y500C probably damaging Het
Nubpl T A 12: 52,144,676 (GRCm39) probably null Het
Nxpe4 T A 9: 48,310,250 (GRCm39) D504E probably damaging Het
Or56a3 A T 7: 104,735,329 (GRCm39) R135S possibly damaging Het
Or8s2 A T 15: 98,276,475 (GRCm39) I172N probably damaging Het
P2rx1 A T 11: 72,900,821 (GRCm39) H224L probably benign Het
Pald1 A T 10: 61,182,815 (GRCm39) probably null Het
Pard6g C T 18: 80,160,411 (GRCm39) R175* probably null Het
Pisd A G 5: 32,895,755 (GRCm39) I271T probably benign Het
Prrt3 T C 6: 113,472,796 (GRCm39) S459G probably damaging Het
Psd3 A T 8: 68,165,945 (GRCm39) C328S unknown Het
Psme1 A G 14: 55,817,853 (GRCm39) E120G Het
Pum3 A T 19: 27,397,457 (GRCm39) M306K possibly damaging Het
Pxdn T C 12: 30,040,992 (GRCm39) F423L probably benign Het
Rac3 A G 11: 120,614,071 (GRCm39) D118G probably damaging Het
Rnf14 A G 18: 38,446,267 (GRCm39) K357E probably benign Het
Rpl23a T C 11: 78,073,720 (GRCm39) I40V probably benign Het
Slc5a5 A T 8: 71,345,227 (GRCm39) S27T probably damaging Het
Slc7a14 A T 3: 31,277,595 (GRCm39) L670Q probably damaging Het
Snorc C T 1: 87,402,826 (GRCm39) T52I probably damaging Het
Sst T A 16: 23,708,499 (GRCm39) K111* probably null Het
Stxbp4 A G 11: 90,426,267 (GRCm39) S514P unknown Het
Susd1 T A 4: 59,390,576 (GRCm39) T300S probably benign Het
Tecpr1 C T 5: 144,150,845 (GRCm39) probably benign Het
Tmem185b C T 1: 119,454,198 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,699 (GRCm39) F305I probably damaging Het
Ttk T A 9: 83,750,113 (GRCm39) D689E probably damaging Het
Tut4 A T 4: 108,336,408 (GRCm39) D44V probably damaging Het
Usp25 A G 16: 76,878,421 (GRCm39) D615G probably damaging Het
Vmn1r209 A G 13: 22,990,684 (GRCm39) V2A probably benign Het
Vmn2r80 A C 10: 79,017,928 (GRCm39) E551A probably damaging Het
Wac G T 18: 7,926,104 (GRCm39) E636* probably null Het
Wdr53 T A 16: 32,071,130 (GRCm39) D158E probably damaging Het
Zbtb7c T C 18: 76,270,152 (GRCm39) V80A 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
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
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'- ATGAGCTGCTCTCTGTGACC -3'
(R):5'- CAGCTCTGAGTTCTGCCTAG -3'

Sequencing Primer
(F):5'- TGTGACCTGCCCCAAGAGAG -3'
(R):5'- GAGTTCTGCCTAGCTCCTCTTCG -3'
Posted On 2021-08-02