Incidental Mutation 'R2897:Myom1'
ID 260877
Institutional Source Beutler Lab
Gene Symbol Myom1
Ensembl Gene ENSMUSG00000024049
Gene Name myomesin 1
Synonyms skelemin, D430047A17Rik
MMRRC Submission 040485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2897 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 71019521-71126856 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 71101220 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024847] [ENSMUST00000073211] [ENSMUST00000179759]
AlphaFold Q62234
Predicted Effect probably benign
Transcript: ENSMUST00000024847
SMART Domains Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049

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 probably benign
Transcript: ENSMUST00000073211
SMART Domains Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049

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 probably benign
Transcript: ENSMUST00000179759
SMART Domains Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,323,521 (GRCm38) V1015A probably benign Het
4930480E11Rik C T X: 78,370,262 (GRCm38) Q198* probably null Het
Acap3 G C 4: 155,904,931 (GRCm38) probably null Het
Adamts14 T C 10: 61,204,910 (GRCm38) D879G probably damaging Het
Akap1 A T 11: 88,844,779 (GRCm38) C352* probably null Het
Ankk1 T A 9: 49,421,822 (GRCm38) T121S probably benign Het
Ankrd6 T C 4: 32,860,438 (GRCm38) S2G probably damaging Het
Anks1 G T 17: 27,985,363 (GRCm38) probably null Het
Apob G A 12: 8,010,356 (GRCm38) G2946D probably damaging Het
Atm A C 9: 53,507,805 (GRCm38) C782W probably damaging Het
Atp1a4 A T 1: 172,246,690 (GRCm38) I332N probably damaging Het
Bnc2 T C 4: 84,292,915 (GRCm38) I406V probably damaging Het
Cdh20 A T 1: 104,947,474 (GRCm38) D327V probably damaging Het
Cep192 T A 18: 67,855,270 (GRCm38) probably null Het
Chd5 T C 4: 152,372,115 (GRCm38) F970L probably damaging Het
Coq9 T C 8: 94,853,124 (GRCm38) Y236H probably damaging Het
Csn1s2a A G 5: 87,781,821 (GRCm38) H93R unknown Het
Cxcr2 T C 1: 74,158,971 (GRCm38) V208A probably benign Het
Cyp1b1 G A 17: 79,713,731 (GRCm38) T194M probably benign Het
Dbt T A 3: 116,523,412 (GRCm38) V79E probably damaging Het
Dcx A G X: 143,923,432 (GRCm38) probably benign Het
Dnm3 G A 1: 162,286,074 (GRCm38) probably benign Het
Erbin C T 13: 103,886,197 (GRCm38) E45K probably damaging Het
Fastkd1 A G 2: 69,702,616 (GRCm38) L469P probably damaging Het
Gkn3 C T 6: 87,383,525 (GRCm38) A163T probably damaging Het
Gm10271 A G 10: 116,972,590 (GRCm38) L7S probably damaging Het
Gm5087 T C 14: 13,158,805 (GRCm38) noncoding transcript Het
Hid1 A G 11: 115,350,530 (GRCm38) S645P probably benign Het
Hmcn1 C T 1: 150,802,873 (GRCm38) C499Y probably damaging Het
Ifna1 C A 4: 88,850,213 (GRCm38) Q43K probably benign Het
Ikbkb G T 8: 22,669,677 (GRCm38) Q432K possibly damaging Het
Inpp4a A T 1: 37,366,594 (GRCm38) H148L probably benign Het
Itpr2 A T 6: 146,323,169 (GRCm38) I1441N probably damaging Het
Itpr2 C T 6: 146,173,341 (GRCm38) R2338Q probably benign Het
Krt78 T C 15: 101,947,106 (GRCm38) R757G probably benign Het
Lmx1a T A 1: 167,830,540 (GRCm38) probably benign Het
Lpxn T A 19: 12,819,358 (GRCm38) S81T probably benign Het
Lrriq1 T C 10: 103,227,250 (GRCm38) N65S probably damaging Het
Mis18bp1 T C 12: 65,133,586 (GRCm38) D981G probably benign Het
Mpp4 T C 1: 59,144,694 (GRCm38) I296V probably benign Het
Mtrf1l T C 10: 5,817,565 (GRCm38) R184G probably benign Het
Muc19 T C 15: 91,924,665 (GRCm38) noncoding transcript Het
Myo6 T A 9: 80,269,611 (GRCm38) probably null Het
Ndrg4 A G 8: 95,678,386 (GRCm38) probably null Het
Neu2 A G 1: 87,595,060 (GRCm38) S72G probably benign Het
Nlrc4 T A 17: 74,448,045 (GRCm38) M59L probably benign Het
Nuak2 A T 1: 132,325,053 (GRCm38) H115L probably damaging Het
Olfr243 A T 7: 103,717,542 (GRCm38) Y316F probably benign Het
Olfr433 T C 1: 174,042,133 (GRCm38) F61S probably damaging Het
Oog1 T A 12: 87,608,408 (GRCm38) I272K probably damaging Het
Pcdhb1 A G 18: 37,266,463 (GRCm38) Y489C probably damaging Het
Pde5a T C 3: 122,779,002 (GRCm38) I344T probably benign Het
Pip5kl1 C A 2: 32,583,347 (GRCm38) A332D probably benign Het
Pja1 T C X: 99,467,148 (GRCm38) E385G probably benign Het
Psma6 A T 12: 55,408,044 (GRCm38) I53L probably benign Het
Ric8b T G 10: 84,947,897 (GRCm38) D206E probably benign Het
Sardh T C 2: 27,189,547 (GRCm38) D911G probably benign Het
Serpinb8 A G 1: 107,607,046 (GRCm38) T32A unknown Het
Shroom2 G T X: 152,660,039 (GRCm38) T710K probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc38a7 A G 8: 95,845,796 (GRCm38) probably benign Het
Stk36 T A 1: 74,632,825 (GRCm38) S895T probably null Het
Sycp3 G A 10: 88,472,682 (GRCm38) E205K possibly damaging Het
Tbc1d16 A T 11: 119,157,828 (GRCm38) I333N probably damaging Het
Tectb C G 19: 55,180,999 (GRCm38) probably benign Het
Tmeff1 T A 4: 48,658,831 (GRCm38) Y101* probably null Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Ttn T A 2: 76,719,156 (GRCm38) T23399S probably damaging Het
Vipas39 A G 12: 87,242,523 (GRCm38) V389A possibly damaging Het
Vps41 T C 13: 18,810,428 (GRCm38) probably benign Het
Zfp329 A T 7: 12,810,486 (GRCm38) H370Q probably damaging Het
Zfp37 C T 4: 62,191,777 (GRCm38) G350D probably damaging Het
Other mutations in Myom1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Myom1 APN 17 71,126,098 (GRCm38) missense probably damaging 1.00
IGL00845:Myom1 APN 17 71,084,429 (GRCm38) missense probably damaging 1.00
IGL00904:Myom1 APN 17 71,099,949 (GRCm38) splice site probably benign
IGL00928:Myom1 APN 17 71,089,913 (GRCm38) missense probably damaging 1.00
IGL01025:Myom1 APN 17 71,077,917 (GRCm38) missense probably damaging 1.00
IGL01548:Myom1 APN 17 71,101,220 (GRCm38) splice site probably benign
IGL01588:Myom1 APN 17 71,117,437 (GRCm38) missense possibly damaging 0.94
IGL01614:Myom1 APN 17 71,126,178 (GRCm38) missense possibly damaging 0.46
IGL01618:Myom1 APN 17 71,099,993 (GRCm38) missense possibly damaging 0.87
IGL01619:Myom1 APN 17 71,044,476 (GRCm38) splice site probably benign
IGL01766:Myom1 APN 17 71,077,288 (GRCm38) missense probably damaging 1.00
IGL02105:Myom1 APN 17 71,047,716 (GRCm38) splice site probably benign
IGL02122:Myom1 APN 17 71,092,137 (GRCm38) missense probably damaging 1.00
IGL02184:Myom1 APN 17 71,072,137 (GRCm38) missense possibly damaging 0.93
IGL02260:Myom1 APN 17 71,108,315 (GRCm38) nonsense probably null
IGL02486:Myom1 APN 17 71,099,944 (GRCm38) splice site probably benign
IGL02501:Myom1 APN 17 71,072,081 (GRCm38) critical splice acceptor site probably null
IGL02642:Myom1 APN 17 71,101,098 (GRCm38) missense possibly damaging 0.90
IGL02677:Myom1 APN 17 71,084,349 (GRCm38) missense probably damaging 1.00
IGL02719:Myom1 APN 17 71,106,354 (GRCm38) splice site probably benign
IGL02945:Myom1 APN 17 71,092,093 (GRCm38) splice site probably benign
IGL03086:Myom1 APN 17 71,108,671 (GRCm38) missense probably damaging 1.00
IGL03218:Myom1 APN 17 71,084,316 (GRCm38) missense possibly damaging 0.46
R0107:Myom1 UTSW 17 71,077,365 (GRCm38) missense probably damaging 1.00
R0130:Myom1 UTSW 17 71,045,755 (GRCm38) missense probably damaging 0.98
R0133:Myom1 UTSW 17 71,047,787 (GRCm38) missense probably damaging 1.00
R0206:Myom1 UTSW 17 71,037,297 (GRCm38) missense probably damaging 1.00
R0206:Myom1 UTSW 17 71,037,297 (GRCm38) missense probably damaging 1.00
R0352:Myom1 UTSW 17 71,045,749 (GRCm38) missense possibly damaging 0.72
R0396:Myom1 UTSW 17 71,034,693 (GRCm38) missense probably damaging 1.00
R0496:Myom1 UTSW 17 71,084,306 (GRCm38) missense probably damaging 1.00
R0506:Myom1 UTSW 17 71,092,220 (GRCm38) splice site probably benign
R0511:Myom1 UTSW 17 71,084,317 (GRCm38) missense probably benign 0.22
R0600:Myom1 UTSW 17 71,120,648 (GRCm38) missense possibly damaging 0.48
R0699:Myom1 UTSW 17 71,067,313 (GRCm38) missense probably damaging 0.98
R0791:Myom1 UTSW 17 71,121,136 (GRCm38) missense probably damaging 1.00
R0792:Myom1 UTSW 17 71,121,136 (GRCm38) missense probably damaging 1.00
R0963:Myom1 UTSW 17 71,077,767 (GRCm38) missense possibly damaging 0.74
R1324:Myom1 UTSW 17 71,052,719 (GRCm38) missense probably damaging 0.98
R2102:Myom1 UTSW 17 71,101,029 (GRCm38) missense probably damaging 1.00
R2158:Myom1 UTSW 17 71,064,597 (GRCm38) missense possibly damaging 0.83
R2336:Myom1 UTSW 17 71,023,194 (GRCm38) missense possibly damaging 0.53
R2351:Myom1 UTSW 17 71,034,579 (GRCm38) missense probably damaging 0.98
R2442:Myom1 UTSW 17 71,110,735 (GRCm38) missense probably damaging 1.00
R2483:Myom1 UTSW 17 71,077,812 (GRCm38) missense probably damaging 1.00
R2892:Myom1 UTSW 17 71,034,653 (GRCm38) missense probably damaging 1.00
R3440:Myom1 UTSW 17 71,045,663 (GRCm38) splice site probably null
R3842:Myom1 UTSW 17 71,045,624 (GRCm38) missense probably damaging 1.00
R4249:Myom1 UTSW 17 71,092,140 (GRCm38) missense probably damaging 1.00
R4329:Myom1 UTSW 17 71,036,353 (GRCm38) missense probably damaging 1.00
R4594:Myom1 UTSW 17 71,100,074 (GRCm38) missense possibly damaging 0.73
R4873:Myom1 UTSW 17 71,072,119 (GRCm38) missense probably damaging 1.00
R4875:Myom1 UTSW 17 71,072,119 (GRCm38) missense probably damaging 1.00
R4876:Myom1 UTSW 17 71,077,410 (GRCm38) missense probably damaging 1.00
R5171:Myom1 UTSW 17 71,099,972 (GRCm38) missense possibly damaging 0.94
R5540:Myom1 UTSW 17 71,109,787 (GRCm38) missense probably damaging 1.00
R5882:Myom1 UTSW 17 71,110,722 (GRCm38) missense probably damaging 1.00
R5978:Myom1 UTSW 17 71,117,443 (GRCm38) missense probably damaging 1.00
R6039:Myom1 UTSW 17 71,110,751 (GRCm38) missense probably damaging 1.00
R6039:Myom1 UTSW 17 71,110,751 (GRCm38) missense probably damaging 1.00
R6155:Myom1 UTSW 17 71,108,695 (GRCm38) critical splice donor site probably null
R6261:Myom1 UTSW 17 71,126,137 (GRCm38) missense probably damaging 1.00
R6284:Myom1 UTSW 17 71,022,892 (GRCm38) nonsense probably null
R6313:Myom1 UTSW 17 71,082,488 (GRCm38) missense probably benign
R6369:Myom1 UTSW 17 71,101,076 (GRCm38) missense probably damaging 1.00
R6545:Myom1 UTSW 17 71,082,305 (GRCm38) missense probably benign 0.00
R6738:Myom1 UTSW 17 71,100,398 (GRCm38) splice site probably null
R6933:Myom1 UTSW 17 71,052,671 (GRCm38) missense probably damaging 1.00
R7168:Myom1 UTSW 17 71,089,947 (GRCm38) missense probably benign 0.00
R7286:Myom1 UTSW 17 71,045,549 (GRCm38) missense possibly damaging 0.90
R7315:Myom1 UTSW 17 71,080,897 (GRCm38) critical splice donor site probably null
R7672:Myom1 UTSW 17 71,084,240 (GRCm38) missense possibly damaging 0.92
R7789:Myom1 UTSW 17 71,117,436 (GRCm38) missense probably benign 0.03
R7898:Myom1 UTSW 17 71,045,752 (GRCm38) missense probably benign 0.25
R8008:Myom1 UTSW 17 71,100,062 (GRCm38) missense probably benign 0.30
R8152:Myom1 UTSW 17 71,084,295 (GRCm38) missense probably damaging 0.96
R8554:Myom1 UTSW 17 71,036,453 (GRCm38) missense possibly damaging 0.94
R8874:Myom1 UTSW 17 71,106,204 (GRCm38) missense probably damaging 1.00
R8981:Myom1 UTSW 17 71,084,321 (GRCm38) missense probably benign 0.09
R9012:Myom1 UTSW 17 71,100,108 (GRCm38) missense probably benign 0.06
R9090:Myom1 UTSW 17 71,067,330 (GRCm38) missense probably damaging 1.00
R9193:Myom1 UTSW 17 71,036,300 (GRCm38) missense probably damaging 1.00
R9237:Myom1 UTSW 17 71,101,056 (GRCm38) missense probably damaging 1.00
R9271:Myom1 UTSW 17 71,067,330 (GRCm38) missense probably damaging 1.00
R9355:Myom1 UTSW 17 71,077,893 (GRCm38) missense probably damaging 1.00
R9362:Myom1 UTSW 17 71,036,293 (GRCm38) missense probably benign 0.00
R9440:Myom1 UTSW 17 71,126,334 (GRCm38) missense probably benign 0.00
R9469:Myom1 UTSW 17 71,061,127 (GRCm38) missense possibly damaging 0.79
R9568:Myom1 UTSW 17 71,087,481 (GRCm38) missense probably damaging 1.00
R9612:Myom1 UTSW 17 71,105,480 (GRCm38) nonsense probably null
R9645:Myom1 UTSW 17 71,092,209 (GRCm38) missense probably benign 0.01
X0019:Myom1 UTSW 17 71,100,071 (GRCm38) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GCACCTATTCTTGTGATGTGAC -3'
(R):5'- TCATGTAGCCAGACCAGACC -3'

Sequencing Primer
(F):5'- CAGACACGGATGGGATAGCGTC -3'
(R):5'- GAACTTGAACTTTGTAGCCCAGGC -3'
Posted On 2015-01-23