Incidental Mutation 'IGL02642:Myom1'
ID 301761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myom1
Ensembl Gene ENSMUSG00000024049
Gene Name myomesin 1
Synonyms skelemin, D430047A17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02642
Quality Score
Status
Chromosome 17
Chromosomal Location 71326455-71433851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71408093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1209 (E1209V)
Ref Sequence ENSEMBL: ENSMUSP00000072945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024847] [ENSMUST00000073211] [ENSMUST00000179759]
AlphaFold Q62234
PDB Structure Skelemin Immunoglobulin C2 like domain 4 [SOLUTION NMR]
Skelemin Association with alfa2b,betta3 Integrin: A Structural Model [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000024847
AA Change: E1111V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: E1111V

DomainStartEndE-ValueType
low complexity region 62 94 N/A INTRINSIC
low complexity region 188 210 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
IG 264 351 1.16e-8 SMART
IG 397 480 5.84e-5 SMART
FN3 490 573 4.48e-13 SMART
FN3 618 701 1.61e-14 SMART
FN3 719 800 1.43e-11 SMART
FN3 818 904 4.99e-11 SMART
FN3 923 1008 2.04e-16 SMART
IG 1025 1110 3.1e0 SMART
IG_like 1133 1219 1.34e1 SMART
IG_like 1253 1319 4.79e0 SMART
IG_like 1356 1433 1.54e2 SMART
IGc2 1469 1537 2.05e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000073211
AA Change: E1209V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: E1209V

DomainStartEndE-ValueType
low complexity region 62 94 N/A INTRINSIC
low complexity region 188 210 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
IG 264 351 1.16e-8 SMART
IG 397 480 5.84e-5 SMART
FN3 490 573 4.48e-13 SMART
FN3 618 701 1.61e-14 SMART
FN3 719 800 1.43e-11 SMART
low complexity region 857 870 N/A INTRINSIC
FN3 916 1002 4.99e-11 SMART
FN3 1021 1106 2.04e-16 SMART
IG 1123 1208 3.1e0 SMART
IG_like 1231 1317 1.34e1 SMART
IG_like 1351 1417 4.79e0 SMART
IG_like 1454 1531 1.54e2 SMART
IGc2 1567 1635 2.05e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179759
AA Change: E1111V

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: E1111V

DomainStartEndE-ValueType
low complexity region 62 94 N/A INTRINSIC
low complexity region 188 210 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
IG 264 351 1.16e-8 SMART
IG 397 480 5.84e-5 SMART
FN3 490 573 4.48e-13 SMART
FN3 618 701 1.61e-14 SMART
FN3 719 800 1.43e-11 SMART
FN3 818 904 4.99e-11 SMART
FN3 923 1008 2.04e-16 SMART
IG 1025 1110 3.1e0 SMART
IG_like 1133 1219 1.34e1 SMART
IG_like 1253 1319 4.79e0 SMART
IG_like 1356 1433 1.54e2 SMART
IGc2 1469 1537 2.05e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180743
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cdk16 T G X: 20,563,167 (GRCm39) D381E probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mrps11 G T 7: 78,438,522 (GRCm39) probably null Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mtr A T 13: 12,210,118 (GRCm39) probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Pnpla7 T C 2: 24,940,288 (GRCm39) F1056L probably benign Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tle5 A T 10: 81,397,126 (GRCm39) Q34L possibly damaging Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably damaging Het
Other mutations in Myom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Myom1 APN 17 71,433,093 (GRCm39) missense probably damaging 1.00
IGL00845:Myom1 APN 17 71,391,424 (GRCm39) missense probably damaging 1.00
IGL00904:Myom1 APN 17 71,406,944 (GRCm39) splice site probably benign
IGL00928:Myom1 APN 17 71,396,908 (GRCm39) missense probably damaging 1.00
IGL01025:Myom1 APN 17 71,384,912 (GRCm39) missense probably damaging 1.00
IGL01548:Myom1 APN 17 71,408,215 (GRCm39) splice site probably benign
IGL01588:Myom1 APN 17 71,424,432 (GRCm39) missense possibly damaging 0.94
IGL01614:Myom1 APN 17 71,433,173 (GRCm39) missense possibly damaging 0.46
IGL01618:Myom1 APN 17 71,406,988 (GRCm39) missense possibly damaging 0.87
IGL01619:Myom1 APN 17 71,351,471 (GRCm39) splice site probably benign
IGL01766:Myom1 APN 17 71,384,283 (GRCm39) missense probably damaging 1.00
IGL02105:Myom1 APN 17 71,354,711 (GRCm39) splice site probably benign
IGL02122:Myom1 APN 17 71,399,132 (GRCm39) missense probably damaging 1.00
IGL02184:Myom1 APN 17 71,379,132 (GRCm39) missense possibly damaging 0.93
IGL02260:Myom1 APN 17 71,415,310 (GRCm39) nonsense probably null
IGL02486:Myom1 APN 17 71,406,939 (GRCm39) splice site probably benign
IGL02501:Myom1 APN 17 71,379,076 (GRCm39) critical splice acceptor site probably null
IGL02677:Myom1 APN 17 71,391,344 (GRCm39) missense probably damaging 1.00
IGL02719:Myom1 APN 17 71,413,349 (GRCm39) splice site probably benign
IGL02945:Myom1 APN 17 71,399,088 (GRCm39) splice site probably benign
IGL03086:Myom1 APN 17 71,415,666 (GRCm39) missense probably damaging 1.00
IGL03218:Myom1 APN 17 71,391,311 (GRCm39) missense possibly damaging 0.46
R0107:Myom1 UTSW 17 71,384,360 (GRCm39) missense probably damaging 1.00
R0130:Myom1 UTSW 17 71,352,750 (GRCm39) missense probably damaging 0.98
R0133:Myom1 UTSW 17 71,354,782 (GRCm39) missense probably damaging 1.00
R0206:Myom1 UTSW 17 71,344,292 (GRCm39) missense probably damaging 1.00
R0206:Myom1 UTSW 17 71,344,292 (GRCm39) missense probably damaging 1.00
R0352:Myom1 UTSW 17 71,352,744 (GRCm39) missense possibly damaging 0.72
R0396:Myom1 UTSW 17 71,341,688 (GRCm39) missense probably damaging 1.00
R0496:Myom1 UTSW 17 71,391,301 (GRCm39) missense probably damaging 1.00
R0506:Myom1 UTSW 17 71,399,215 (GRCm39) splice site probably benign
R0511:Myom1 UTSW 17 71,391,312 (GRCm39) missense probably benign 0.22
R0600:Myom1 UTSW 17 71,427,643 (GRCm39) missense possibly damaging 0.48
R0699:Myom1 UTSW 17 71,374,308 (GRCm39) missense probably damaging 0.98
R0791:Myom1 UTSW 17 71,428,131 (GRCm39) missense probably damaging 1.00
R0792:Myom1 UTSW 17 71,428,131 (GRCm39) missense probably damaging 1.00
R0963:Myom1 UTSW 17 71,384,762 (GRCm39) missense possibly damaging 0.74
R1324:Myom1 UTSW 17 71,359,714 (GRCm39) missense probably damaging 0.98
R2102:Myom1 UTSW 17 71,408,024 (GRCm39) missense probably damaging 1.00
R2158:Myom1 UTSW 17 71,371,592 (GRCm39) missense possibly damaging 0.83
R2336:Myom1 UTSW 17 71,330,189 (GRCm39) missense possibly damaging 0.53
R2351:Myom1 UTSW 17 71,341,574 (GRCm39) missense probably damaging 0.98
R2442:Myom1 UTSW 17 71,417,730 (GRCm39) missense probably damaging 1.00
R2483:Myom1 UTSW 17 71,384,807 (GRCm39) missense probably damaging 1.00
R2892:Myom1 UTSW 17 71,341,648 (GRCm39) missense probably damaging 1.00
R2897:Myom1 UTSW 17 71,408,215 (GRCm39) splice site probably benign
R3440:Myom1 UTSW 17 71,352,658 (GRCm39) splice site probably null
R3842:Myom1 UTSW 17 71,352,619 (GRCm39) missense probably damaging 1.00
R4249:Myom1 UTSW 17 71,399,135 (GRCm39) missense probably damaging 1.00
R4329:Myom1 UTSW 17 71,343,348 (GRCm39) missense probably damaging 1.00
R4594:Myom1 UTSW 17 71,407,069 (GRCm39) missense possibly damaging 0.73
R4873:Myom1 UTSW 17 71,379,114 (GRCm39) missense probably damaging 1.00
R4875:Myom1 UTSW 17 71,379,114 (GRCm39) missense probably damaging 1.00
R4876:Myom1 UTSW 17 71,384,405 (GRCm39) missense probably damaging 1.00
R5171:Myom1 UTSW 17 71,406,967 (GRCm39) missense possibly damaging 0.94
R5540:Myom1 UTSW 17 71,416,782 (GRCm39) missense probably damaging 1.00
R5882:Myom1 UTSW 17 71,417,717 (GRCm39) missense probably damaging 1.00
R5978:Myom1 UTSW 17 71,424,438 (GRCm39) missense probably damaging 1.00
R6039:Myom1 UTSW 17 71,417,746 (GRCm39) missense probably damaging 1.00
R6039:Myom1 UTSW 17 71,417,746 (GRCm39) missense probably damaging 1.00
R6155:Myom1 UTSW 17 71,415,690 (GRCm39) critical splice donor site probably null
R6261:Myom1 UTSW 17 71,433,132 (GRCm39) missense probably damaging 1.00
R6284:Myom1 UTSW 17 71,329,887 (GRCm39) nonsense probably null
R6313:Myom1 UTSW 17 71,389,483 (GRCm39) missense probably benign
R6369:Myom1 UTSW 17 71,408,071 (GRCm39) missense probably damaging 1.00
R6545:Myom1 UTSW 17 71,389,300 (GRCm39) missense probably benign 0.00
R6738:Myom1 UTSW 17 71,407,393 (GRCm39) splice site probably null
R6933:Myom1 UTSW 17 71,359,666 (GRCm39) missense probably damaging 1.00
R7168:Myom1 UTSW 17 71,396,942 (GRCm39) missense probably benign 0.00
R7286:Myom1 UTSW 17 71,352,544 (GRCm39) missense possibly damaging 0.90
R7315:Myom1 UTSW 17 71,387,892 (GRCm39) critical splice donor site probably null
R7672:Myom1 UTSW 17 71,391,235 (GRCm39) missense possibly damaging 0.92
R7789:Myom1 UTSW 17 71,424,431 (GRCm39) missense probably benign 0.03
R7898:Myom1 UTSW 17 71,352,747 (GRCm39) missense probably benign 0.25
R8008:Myom1 UTSW 17 71,407,057 (GRCm39) missense probably benign 0.30
R8152:Myom1 UTSW 17 71,391,290 (GRCm39) missense probably damaging 0.96
R8554:Myom1 UTSW 17 71,343,448 (GRCm39) missense possibly damaging 0.94
R8874:Myom1 UTSW 17 71,413,199 (GRCm39) missense probably damaging 1.00
R8981:Myom1 UTSW 17 71,391,316 (GRCm39) missense probably benign 0.09
R9012:Myom1 UTSW 17 71,407,103 (GRCm39) missense probably benign 0.06
R9090:Myom1 UTSW 17 71,374,325 (GRCm39) missense probably damaging 1.00
R9193:Myom1 UTSW 17 71,343,295 (GRCm39) missense probably damaging 1.00
R9237:Myom1 UTSW 17 71,408,051 (GRCm39) missense probably damaging 1.00
R9271:Myom1 UTSW 17 71,374,325 (GRCm39) missense probably damaging 1.00
R9355:Myom1 UTSW 17 71,384,888 (GRCm39) missense probably damaging 1.00
R9362:Myom1 UTSW 17 71,343,288 (GRCm39) missense probably benign 0.00
R9440:Myom1 UTSW 17 71,433,329 (GRCm39) missense probably benign 0.00
R9469:Myom1 UTSW 17 71,368,122 (GRCm39) missense possibly damaging 0.79
R9568:Myom1 UTSW 17 71,394,476 (GRCm39) missense probably damaging 1.00
R9612:Myom1 UTSW 17 71,412,475 (GRCm39) nonsense probably null
R9645:Myom1 UTSW 17 71,399,204 (GRCm39) missense probably benign 0.01
X0019:Myom1 UTSW 17 71,407,066 (GRCm39) missense possibly damaging 0.55
Posted On 2015-04-16