Incidental Mutation 'R8874:Myom1'
ID 676497
Institutional Source Beutler Lab
Gene Symbol Myom1
Ensembl Gene ENSMUSG00000024049
Gene Name myomesin 1
Synonyms skelemin, D430047A17Rik
MMRRC Submission 068744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 71019521-71126856 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71106204 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1271 (K1271E)
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 possibly damaging
Transcript: ENSMUST00000024847
AA Change: K1173E

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: K1173E

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 damaging
Transcript: ENSMUST00000073211
AA Change: K1271E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: K1271E

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: K1173E

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: K1173E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,825,671 (GRCm38) M615V possibly damaging Het
Bud31 T C 5: 145,142,569 (GRCm38) probably null Het
Ccdc42 A G 11: 68,594,570 (GRCm38) K105E probably damaging Het
Cenpq A G 17: 40,931,660 (GRCm38) S93P probably damaging Het
Cfh A G 1: 140,086,421 (GRCm38) F1222L probably damaging Het
Cpxm2 A T 7: 132,106,281 (GRCm38) probably null Het
Cubn T C 2: 13,360,346 (GRCm38) D1627G possibly damaging Het
Diras2 T C 13: 52,507,701 (GRCm38) E190G possibly damaging Het
Dpyd G C 3: 118,999,332 (GRCm38) A563P probably damaging Het
Efcab8 T A 2: 153,798,649 (GRCm38) N343K Het
Fam26d A G 10: 34,044,268 (GRCm38) M1T probably null Het
Gbp2b A G 3: 142,608,279 (GRCm38) E440G probably benign Het
Ghrhr T C 6: 55,378,906 (GRCm38) F30L probably benign Het
Gm3404 T A 5: 146,528,143 (GRCm38) V231E possibly damaging Het
Gramd4 A G 15: 86,100,892 (GRCm38) H143R probably damaging Het
Greb1l A T 18: 10,544,896 (GRCm38) E1408V probably benign Het
Hdgfl1 T G 13: 26,770,024 (GRCm38) Y22S probably damaging Het
Heatr1 T A 13: 12,430,912 (GRCm38) V1590D probably damaging Het
Hecw2 A T 1: 53,904,449 (GRCm38) probably benign Het
Igkv8-30 C A 6: 70,117,166 (GRCm38) R87L probably damaging Het
Il18rap T A 1: 40,525,346 (GRCm38) C179S probably damaging Het
Jph4 T C 14: 55,114,077 (GRCm38) T161A possibly damaging Het
Klhdc7a A T 4: 139,967,585 (GRCm38) M17K probably damaging Het
Kpnb1 T C 11: 97,165,383 (GRCm38) N699S probably benign Het
Lama3 T C 18: 12,449,586 (GRCm38) probably null Het
Lca5 A G 9: 83,395,450 (GRCm38) F614L probably damaging Het
Lyst T C 13: 13,637,562 (GRCm38) V853A probably benign Het
Map2 A T 1: 66,416,364 (GRCm38) T1406S probably damaging Het
Med23 A G 10: 24,895,719 (GRCm38) I552V possibly damaging Het
Myo1h A T 5: 114,334,102 (GRCm38) I414L Het
Olfr126 A T 17: 37,850,784 (GRCm38) K64M probably damaging Het
Olfr133 T A 17: 38,148,732 (GRCm38) V48E possibly damaging Het
Olfr873 T C 9: 20,300,773 (GRCm38) F192S possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Prdm2 A T 4: 143,133,215 (GRCm38) D1168E possibly damaging Het
Prr5 T C 15: 84,699,715 (GRCm38) M181T probably damaging Het
Ptpdc1 A G 13: 48,590,692 (GRCm38) I151T probably damaging Het
Ptpn7 T C 1: 135,139,266 (GRCm38) V287A possibly damaging Het
Ptprz1 T C 6: 23,042,748 (GRCm38) V2057A Het
Rad17 G T 13: 100,617,819 (GRCm38) A631E probably benign Het
Sf3a2 ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT 10: 80,804,437 (GRCm38) probably benign Het
Slc22a2 A T 17: 12,609,979 (GRCm38) D324V probably benign Het
Ssfa2 A G 2: 79,657,340 (GRCm38) K589R probably benign Het
Strc C T 2: 121,374,872 (GRCm38) probably null Het
Taf4b T G 18: 14,830,070 (GRCm38) D622E probably benign Het
Tgfbrap1 A C 1: 43,075,813 (GRCm38) N42K probably benign Het
Uvrag A G 7: 98,979,736 (GRCm38) F375L probably benign Het
Vmn2r76 A G 7: 86,228,791 (GRCm38) I466T probably damaging Het
Vmn2r8 T C 5: 108,808,751 (GRCm38) K2E probably damaging Het
Vps13d T C 4: 145,155,202 (GRCm38) T1274A Het
Vwa3b C T 1: 37,035,758 (GRCm38) A2V possibly damaging Het
Ylpm1 T C 12: 85,069,620 (GRCm38) V2092A probably damaging Het
Zfp638 T C 6: 83,969,153 (GRCm38) S1055P probably damaging Het
Zzef1 A G 11: 72,863,989 (GRCm38) T982A probably benign 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
R2897:Myom1 UTSW 17 71,101,220 (GRCm38) splice site probably benign
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
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'- GTGTACGCATCTACCCACATAATAC -3'
(R):5'- GCCACTCGGTATTAGTACTGAC -3'

Sequencing Primer
(F):5'- CCACATAATACATTCCTTGTTCCATG -3'
(R):5'- TAAGTCACCAGGTGTCCCACTG -3'
Posted On 2021-07-15