Incidental Mutation 'R9182:Myh13'
ID 697130
Institutional Source Beutler Lab
Gene Symbol Myh13
Ensembl Gene ENSMUSG00000060180
Gene Name myosin, heavy polypeptide 13, skeletal muscle
Synonyms EO Myosin, MyHC-eo, extraocular myosin
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R9182 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67217929-67262413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67228579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 373 (E373G)
Ref Sequence ENSEMBL: ENSMUSP00000080584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]
AlphaFold B1AR69
Predicted Effect probably damaging
Transcript: ENSMUST00000081911
AA Change: E373G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: E373G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 8e-13 PFAM
MYSc 80 783 N/A SMART
IQ 784 806 4.6e-1 SMART
Pfam:Myosin_tail_1 847 1928 4.6e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108684
AA Change: E373G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: E373G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 2.8e-14 PFAM
MYSc 80 783 N/A SMART
IQ 784 806 4.6e-1 SMART
low complexity region 847 858 N/A INTRINSIC
low complexity region 925 940 N/A INTRINSIC
Pfam:Myosin_tail_1 1072 1930 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180845
AA Change: E373G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: E373G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 2.8e-14 PFAM
MYSc 80 783 N/A SMART
IQ 784 806 4.6e-1 SMART
low complexity region 847 858 N/A INTRINSIC
low complexity region 925 940 N/A INTRINSIC
Pfam:Myosin_tail_1 1072 1930 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (99/99)
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,243,473 (GRCm39) M190K probably damaging Het
4931406B18Rik A G 7: 43,153,640 (GRCm39) W3R probably damaging Het
Acap3 T C 4: 155,989,892 (GRCm39) L720P probably damaging Het
Actc1 T C 2: 113,882,494 (GRCm39) T7A probably benign Het
Angpt2 T A 8: 18,760,658 (GRCm39) probably null Het
Babam2 T A 5: 32,058,401 (GRCm39) D228E possibly damaging Het
Ccar1 G A 10: 62,621,347 (GRCm39) L34F probably damaging Het
Ccdc83 T C 7: 89,886,102 (GRCm39) D219G probably damaging Het
Cct2 A G 10: 116,892,025 (GRCm39) V341A probably benign Het
Cdc20b G A 13: 113,208,503 (GRCm39) probably null Het
Chd7 T A 4: 8,838,737 (GRCm39) L1312Q probably damaging Het
Cltc G A 11: 86,595,982 (GRCm39) T1252I probably damaging Het
Cnpy1 G T 5: 28,450,799 (GRCm39) D2E possibly damaging Het
Crat C T 2: 30,298,085 (GRCm39) V205M probably damaging Het
Cspg4b A G 13: 113,457,358 (GRCm39) N1135D Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dglucy T C 12: 100,811,028 (GRCm39) V254A possibly damaging Het
Disp3 A G 4: 148,354,841 (GRCm39) S392P probably damaging Het
Dlx6 A T 6: 6,863,456 (GRCm39) Q26L probably benign Het
Dnah3 T C 7: 119,684,351 (GRCm39) D258G probably damaging Het
Dnah6 A T 6: 73,121,688 (GRCm39) Y1431* probably null Het
Dnah7b T C 1: 46,330,038 (GRCm39) I3294T probably benign Het
Dnai2 A G 11: 114,623,839 (GRCm39) N34S probably benign Het
Dock2 T C 11: 34,260,398 (GRCm39) K981R possibly damaging Het
Entpd8 T C 2: 24,971,931 (GRCm39) I33T probably benign Het
Eppk1 A G 15: 75,995,453 (GRCm39) L476P probably benign Het
Etv1 T A 12: 38,830,716 (GRCm39) probably null Het
Fads2b T C 2: 85,330,581 (GRCm39) H242R probably benign Het
Fam193a T A 5: 34,623,361 (GRCm39) N1316K possibly damaging Het
Fkbp4 T C 6: 128,415,382 (GRCm39) E31G probably benign Het
Fnbp1l C T 3: 122,363,345 (GRCm39) D81N probably damaging Het
Fstl4 T C 11: 53,024,905 (GRCm39) V259A probably damaging Het
Glipr1l1 T C 10: 111,912,056 (GRCm39) S197P probably damaging Het
Gprin3 A T 6: 59,331,197 (GRCm39) M370K probably benign Het
Gsc G T 12: 104,439,120 (GRCm39) Y85* probably null Het
Gys2 T G 6: 142,391,735 (GRCm39) Y509S probably damaging Het
Gys2 T C 6: 142,406,978 (GRCm39) N126S possibly damaging Het
Hmcn1 A T 1: 150,488,405 (GRCm39) W4292R probably damaging Het
Hmcn1 C A 1: 150,500,337 (GRCm39) E3952* probably null Het
Hsd3b9 C T 3: 98,354,005 (GRCm39) A165T possibly damaging Het
Htr1f T C 16: 64,746,825 (GRCm39) M156V probably benign Het
Il21r G A 7: 125,228,213 (GRCm39) G228E probably benign Het
Kat6b C T 14: 21,567,187 (GRCm39) S82L probably benign Het
Kntc1 T A 5: 123,940,355 (GRCm39) L1651Q probably damaging Het
Lipi G T 16: 75,357,673 (GRCm39) Y297* probably null Het
Mapre3 T C 5: 31,022,016 (GRCm39) S190P possibly damaging Het
Mmp8 T A 9: 7,567,467 (GRCm39) Y442* probably null Het
Mmut A G 17: 41,252,310 (GRCm39) E284G probably damaging Het
Mt3 G A 8: 94,880,615 (GRCm39) E62K unknown Het
Myh7 T C 14: 55,226,374 (GRCm39) Y422C probably damaging Het
Nalcn A G 14: 123,834,016 (GRCm39) V53A probably damaging Het
Nucb2 A G 7: 116,121,070 (GRCm39) probably null Het
Opn5 A T 17: 42,903,890 (GRCm39) H148Q probably damaging Het
Or13a23-ps1 A T 7: 140,118,782 (GRCm39) L117F probably benign Het
Or51h1 A T 7: 102,308,927 (GRCm39) I300L probably damaging Het
Or51v14 T C 7: 103,261,063 (GRCm39) K166E possibly damaging Het
Or6b1 A T 6: 42,815,010 (GRCm39) N65I probably benign Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or8b56 C A 9: 38,739,172 (GRCm39) H56N probably damaging Het
Osmr T A 15: 6,850,569 (GRCm39) D679V probably damaging Het
Pde4dip T C 3: 97,602,314 (GRCm39) D2305G probably benign Het
Pdgfrl A T 8: 41,429,996 (GRCm39) Q121L probably damaging Het
Pls1 C A 9: 95,658,811 (GRCm39) V226F probably damaging Het
Plxnd1 T A 6: 115,970,746 (GRCm39) I341F probably damaging Het
Ppfia2 T A 10: 106,763,640 (GRCm39) M1211K probably benign Het
Ppfibp2 T A 7: 107,308,053 (GRCm39) Y229N possibly damaging Het
Prss53 A G 7: 127,487,554 (GRCm39) S266P probably benign Het
Pycr2 C T 1: 180,734,397 (GRCm39) Q226* probably null Het
Rad50 T C 11: 53,583,590 (GRCm39) H397R probably benign Het
Raf1 T C 6: 115,600,440 (GRCm39) E393G probably damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Robo4 A T 9: 37,313,206 (GRCm39) probably benign Het
Sbf1 A T 15: 89,173,806 (GRCm39) probably null Het
Serpinb6a T C 13: 34,109,360 (GRCm39) D145G probably damaging Het
Setx T A 2: 29,061,299 (GRCm39) M2236K probably damaging Het
Sgms1 A G 19: 32,101,758 (GRCm39) V416A probably benign Het
Six5 T G 7: 18,830,932 (GRCm39) S520A probably benign Het
Sox5 T A 6: 143,779,118 (GRCm39) I722F possibly damaging Het
Spag17 T G 3: 99,966,158 (GRCm39) I1147S possibly damaging Het
Spice1 C T 16: 44,206,065 (GRCm39) T842I possibly damaging Het
Ssbp2 A G 13: 91,848,800 (GRCm39) T358A probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tbc1d2b C A 9: 90,152,652 (GRCm39) C38F probably damaging Het
Tecrl C A 5: 83,457,049 (GRCm39) probably null Het
Tgm7 T C 2: 120,926,980 (GRCm39) N390D probably benign Het
Thsd4 T G 9: 59,894,649 (GRCm39) M770L probably benign Het
Tmod2 C A 9: 75,504,624 (GRCm39) probably benign Het
Tnks A G 8: 35,308,905 (GRCm39) probably null Het
Tox3 T C 8: 90,984,507 (GRCm39) N224S probably benign Het
Trappc10 C T 10: 78,050,464 (GRCm39) E326K probably damaging Het
Usp16 T A 16: 87,276,542 (GRCm39) F627I probably benign Het
Vcam1 T C 3: 115,911,004 (GRCm39) I465V probably benign Het
Vmn1r128 T C 7: 21,083,683 (GRCm39) I129T possibly damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r2 A T 3: 64,044,802 (GRCm39) C115S probably damaging Het
Vmn2r85 A C 10: 130,265,350 (GRCm39) S44R probably benign Het
Wasf3 T A 5: 146,403,635 (GRCm39) Y248* probably null Het
Yipf5 A T 18: 40,343,851 (GRCm39) L127M probably damaging Het
Zbp1 G T 2: 173,050,933 (GRCm39) C312* probably null Het
Zfp423 A T 8: 88,508,742 (GRCm39) F534Y probably damaging Het
Zfp69 T G 4: 120,792,308 (GRCm39) Y156S probably damaging Het
Zmat4 A G 8: 24,419,226 (GRCm39) N155S probably damaging Het
Other mutations in Myh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Myh13 APN 11 67,233,314 (GRCm39) missense probably damaging 1.00
IGL00808:Myh13 APN 11 67,225,830 (GRCm39) critical splice donor site probably null
IGL00822:Myh13 APN 11 67,252,154 (GRCm39) missense probably damaging 0.98
IGL00823:Myh13 APN 11 67,246,773 (GRCm39) missense probably benign 0.00
IGL00945:Myh13 APN 11 67,238,832 (GRCm39) missense probably null 1.00
IGL01414:Myh13 APN 11 67,233,298 (GRCm39) missense probably benign 0.02
IGL01482:Myh13 APN 11 67,242,894 (GRCm39) missense probably benign
IGL01523:Myh13 APN 11 67,238,769 (GRCm39) missense possibly damaging 0.73
IGL01723:Myh13 APN 11 67,260,045 (GRCm39) unclassified probably benign
IGL01997:Myh13 APN 11 67,257,992 (GRCm39) missense probably benign 0.14
IGL02369:Myh13 APN 11 67,251,100 (GRCm39) unclassified probably benign
IGL02478:Myh13 APN 11 67,260,204 (GRCm39) missense probably benign
IGL02663:Myh13 APN 11 67,245,753 (GRCm39) nonsense probably null
IGL02851:Myh13 APN 11 67,239,742 (GRCm39) missense possibly damaging 0.92
IGL02863:Myh13 APN 11 67,223,367 (GRCm39) missense probably damaging 1.00
IGL02929:Myh13 APN 11 67,257,991 (GRCm39) missense probably damaging 1.00
IGL02979:Myh13 APN 11 67,225,788 (GRCm39) missense possibly damaging 0.72
IGL03065:Myh13 APN 11 67,235,679 (GRCm39) missense probably damaging 0.99
IGL03214:Myh13 APN 11 67,244,411 (GRCm39) missense possibly damaging 0.79
IGL03223:Myh13 APN 11 67,241,068 (GRCm39) missense probably benign 0.39
IGL03231:Myh13 APN 11 67,242,817 (GRCm39) missense possibly damaging 0.94
IGL03407:Myh13 APN 11 67,242,978 (GRCm39) missense probably damaging 1.00
3-1:Myh13 UTSW 11 67,242,777 (GRCm39) splice site probably benign
P0042:Myh13 UTSW 11 67,225,817 (GRCm39) missense probably benign 0.00
R0047:Myh13 UTSW 11 67,258,063 (GRCm39) missense probably benign 0.00
R0047:Myh13 UTSW 11 67,258,063 (GRCm39) missense probably benign 0.00
R0379:Myh13 UTSW 11 67,260,121 (GRCm39) unclassified probably benign
R0496:Myh13 UTSW 11 67,239,641 (GRCm39) missense probably damaging 1.00
R0584:Myh13 UTSW 11 67,251,200 (GRCm39) nonsense probably null
R0595:Myh13 UTSW 11 67,235,672 (GRCm39) missense probably benign 0.03
R0621:Myh13 UTSW 11 67,232,058 (GRCm39) missense probably damaging 0.98
R0834:Myh13 UTSW 11 67,240,436 (GRCm39) missense possibly damaging 0.88
R0893:Myh13 UTSW 11 67,225,427 (GRCm39) missense probably damaging 1.00
R0964:Myh13 UTSW 11 67,235,828 (GRCm39) missense probably benign 0.02
R0973:Myh13 UTSW 11 67,223,346 (GRCm39) missense probably damaging 1.00
R0973:Myh13 UTSW 11 67,223,346 (GRCm39) missense probably damaging 1.00
R0974:Myh13 UTSW 11 67,223,346 (GRCm39) missense probably damaging 1.00
R1028:Myh13 UTSW 11 67,247,007 (GRCm39) missense possibly damaging 0.71
R1112:Myh13 UTSW 11 67,245,576 (GRCm39) missense probably damaging 1.00
R1283:Myh13 UTSW 11 67,261,747 (GRCm39) missense probably damaging 1.00
R1288:Myh13 UTSW 11 67,244,544 (GRCm39) missense probably benign 0.00
R1386:Myh13 UTSW 11 67,261,776 (GRCm39) missense possibly damaging 0.79
R1457:Myh13 UTSW 11 67,221,872 (GRCm39) missense probably damaging 0.97
R1503:Myh13 UTSW 11 67,244,500 (GRCm39) missense probably benign 0.43
R1574:Myh13 UTSW 11 67,253,407 (GRCm39) unclassified probably benign
R1673:Myh13 UTSW 11 67,242,945 (GRCm39) missense possibly damaging 0.79
R1693:Myh13 UTSW 11 67,232,310 (GRCm39) missense possibly damaging 0.95
R1763:Myh13 UTSW 11 67,225,402 (GRCm39) missense probably benign
R2029:Myh13 UTSW 11 67,252,115 (GRCm39) missense probably benign 0.03
R2030:Myh13 UTSW 11 67,241,064 (GRCm39) missense probably benign
R2247:Myh13 UTSW 11 67,225,384 (GRCm39) missense probably damaging 0.96
R2393:Myh13 UTSW 11 67,231,184 (GRCm39) missense possibly damaging 0.93
R2395:Myh13 UTSW 11 67,255,748 (GRCm39) missense probably benign 0.12
R2884:Myh13 UTSW 11 67,228,469 (GRCm39) missense probably benign 0.27
R3696:Myh13 UTSW 11 67,235,870 (GRCm39) missense possibly damaging 0.55
R3786:Myh13 UTSW 11 67,218,014 (GRCm39) missense probably benign 0.01
R3875:Myh13 UTSW 11 67,249,020 (GRCm39) missense probably benign 0.26
R3918:Myh13 UTSW 11 67,220,064 (GRCm39) missense probably benign 0.00
R4061:Myh13 UTSW 11 67,221,715 (GRCm39) missense possibly damaging 0.71
R4160:Myh13 UTSW 11 67,255,636 (GRCm39) intron probably benign
R4183:Myh13 UTSW 11 67,240,436 (GRCm39) missense possibly damaging 0.88
R4392:Myh13 UTSW 11 67,235,707 (GRCm39) splice site probably null
R4639:Myh13 UTSW 11 67,232,377 (GRCm39) missense possibly damaging 0.91
R4670:Myh13 UTSW 11 67,255,564 (GRCm39) nonsense probably null
R4783:Myh13 UTSW 11 67,232,096 (GRCm39) missense probably damaging 1.00
R4877:Myh13 UTSW 11 67,228,477 (GRCm39) missense probably damaging 0.99
R5250:Myh13 UTSW 11 67,218,085 (GRCm39) nonsense probably null
R5278:Myh13 UTSW 11 67,225,390 (GRCm39) missense probably benign 0.00
R5371:Myh13 UTSW 11 67,235,616 (GRCm39) splice site probably null
R5479:Myh13 UTSW 11 67,239,648 (GRCm39) missense probably damaging 0.97
R5510:Myh13 UTSW 11 67,228,549 (GRCm39) missense probably benign 0.05
R5690:Myh13 UTSW 11 67,220,101 (GRCm39) missense probably damaging 1.00
R5797:Myh13 UTSW 11 67,225,828 (GRCm39) missense possibly damaging 0.66
R5823:Myh13 UTSW 11 67,251,294 (GRCm39) missense probably damaging 1.00
R5877:Myh13 UTSW 11 67,244,484 (GRCm39) missense possibly damaging 0.78
R6041:Myh13 UTSW 11 67,255,556 (GRCm39) missense probably damaging 1.00
R6175:Myh13 UTSW 11 67,245,588 (GRCm39) missense probably benign 0.00
R6244:Myh13 UTSW 11 67,253,327 (GRCm39) missense probably benign 0.00
R6454:Myh13 UTSW 11 67,241,191 (GRCm39) missense probably benign 0.03
R6617:Myh13 UTSW 11 67,252,226 (GRCm39) missense probably benign 0.00
R6707:Myh13 UTSW 11 67,241,086 (GRCm39) missense probably damaging 1.00
R6747:Myh13 UTSW 11 67,241,245 (GRCm39) missense probably damaging 0.99
R6823:Myh13 UTSW 11 67,246,984 (GRCm39) missense probably benign
R6911:Myh13 UTSW 11 67,245,753 (GRCm39) nonsense probably null
R6997:Myh13 UTSW 11 67,217,980 (GRCm39) nonsense probably null
R7033:Myh13 UTSW 11 67,260,142 (GRCm39) missense possibly damaging 0.92
R7145:Myh13 UTSW 11 67,245,566 (GRCm39) missense probably benign 0.08
R7232:Myh13 UTSW 11 67,239,672 (GRCm39) missense probably damaging 1.00
R7428:Myh13 UTSW 11 67,223,390 (GRCm39) missense probably damaging 1.00
R7448:Myh13 UTSW 11 67,255,286 (GRCm39) critical splice acceptor site probably null
R7474:Myh13 UTSW 11 67,258,537 (GRCm39) missense
R7474:Myh13 UTSW 11 67,217,990 (GRCm39) missense possibly damaging 0.93
R7766:Myh13 UTSW 11 67,249,155 (GRCm39) missense probably benign 0.37
R7809:Myh13 UTSW 11 67,241,167 (GRCm39) missense probably benign 0.14
R7813:Myh13 UTSW 11 67,218,056 (GRCm39) missense probably benign 0.27
R7953:Myh13 UTSW 11 67,231,206 (GRCm39) missense probably damaging 1.00
R8085:Myh13 UTSW 11 67,225,613 (GRCm39) missense probably benign 0.00
R8397:Myh13 UTSW 11 67,241,113 (GRCm39) missense possibly damaging 0.62
R8434:Myh13 UTSW 11 67,254,011 (GRCm39) critical splice acceptor site probably null
R8490:Myh13 UTSW 11 67,255,351 (GRCm39) missense probably damaging 0.98
R8676:Myh13 UTSW 11 67,233,311 (GRCm39) missense probably damaging 1.00
R8681:Myh13 UTSW 11 67,242,960 (GRCm39) missense possibly damaging 0.49
R8777:Myh13 UTSW 11 67,252,161 (GRCm39) missense possibly damaging 0.92
R8777-TAIL:Myh13 UTSW 11 67,252,161 (GRCm39) missense possibly damaging 0.92
R8965:Myh13 UTSW 11 67,255,432 (GRCm39) missense probably benign 0.00
R9088:Myh13 UTSW 11 67,242,885 (GRCm39) missense probably damaging 1.00
R9151:Myh13 UTSW 11 67,252,149 (GRCm39) missense probably damaging 1.00
R9154:Myh13 UTSW 11 67,253,318 (GRCm39) missense probably benign
R9332:Myh13 UTSW 11 67,254,109 (GRCm39) missense possibly damaging 0.57
R9393:Myh13 UTSW 11 67,242,894 (GRCm39) missense probably benign
R9446:Myh13 UTSW 11 67,255,325 (GRCm39) missense probably benign 0.01
R9474:Myh13 UTSW 11 67,255,712 (GRCm39) missense
R9690:Myh13 UTSW 11 67,249,194 (GRCm39) missense probably damaging 1.00
R9761:Myh13 UTSW 11 67,251,294 (GRCm39) missense probably damaging 1.00
R9778:Myh13 UTSW 11 67,249,016 (GRCm39) missense probably damaging 0.98
Z1176:Myh13 UTSW 11 67,220,121 (GRCm39) missense possibly damaging 0.93
Z1177:Myh13 UTSW 11 67,255,417 (GRCm39) missense possibly damaging 0.93
Z1177:Myh13 UTSW 11 67,241,278 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- CCCACTCGTGTGAGCAAATG -3'
(R):5'- AGGCATGTCTTGAGAGTAGATGATG -3'

Sequencing Primer
(F):5'- CAAATGCTGTCTCGTCTGATACACAG -3'
(R):5'- TGAGAGTAGATGATGATTTGACACC -3'
Posted On 2022-02-07