Incidental Mutation 'R6244:Myh13'
ID 505468
Institutional Source Beutler Lab
Gene Symbol Myh13
Ensembl Gene ENSMUSG00000060180
Gene Name myosin, heavy polypeptide 13, skeletal muscle
Synonyms EO Myosin, extraocular myosin, MyHC-eo
MMRRC Submission 044435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R6244 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67321658-67371586 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67362501 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1488 (M1488V)
Ref Sequence ENSEMBL: ENSMUSP00000137731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]
AlphaFold B1AR69
Predicted Effect probably benign
Transcript: ENSMUST00000081911
AA Change: M1488V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: M1488V

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 benign
Transcript: ENSMUST00000108684
AA Change: M1488V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: M1488V

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 noncoding transcript
Transcript: ENSMUST00000122618
Predicted Effect probably benign
Transcript: ENSMUST00000180845
AA Change: M1488V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: M1488V

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 benign
Transcript: ENSMUST00000181027
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 96% (82/85)
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 156,003,230 (GRCm38) H113R possibly damaging Het
Adgrf3 A T 5: 30,197,533 (GRCm38) M499K probably benign Het
Adgrv1 G A 13: 81,106,931 (GRCm38) T211I probably damaging Het
Adss2 C T 1: 177,776,829 (GRCm38) E153K probably benign Het
Ago4 C A 4: 126,511,487 (GRCm38) G431V possibly damaging Het
Araf G T X: 20,860,100 (GRCm38) R601L probably damaging Homo
Atp2b4 T A 1: 133,726,561 (GRCm38) I769F probably damaging Het
Atp9a T C 2: 168,689,352 (GRCm38) probably null Het
Bltp1 T C 3: 36,956,999 (GRCm38) V1782A probably benign Het
Brap C A 5: 121,665,309 (GRCm38) D173E probably benign Het
Brca2 G T 5: 150,566,978 (GRCm38) R3035L probably benign Het
Ccdc8 C A 7: 16,996,251 (GRCm38) P555Q probably benign Het
Ccser2 A G 14: 36,940,718 (GRCm38) S170P probably benign Het
Celsr2 T C 3: 108,393,128 (GRCm38) H860R probably damaging Het
Cenpc1 C A 5: 86,046,385 (GRCm38) R174M probably damaging Het
Cfap57 T G 4: 118,579,410 (GRCm38) I930L probably damaging Het
Cx3cr1 C T 9: 120,051,694 (GRCm38) R214H probably damaging Het
Cyp4f14 T A 17: 32,906,317 (GRCm38) H429L probably benign Het
D5Ertd579e A G 5: 36,615,276 (GRCm38) F592L probably damaging Het
Ddb1 A G 19: 10,625,923 (GRCm38) E865G probably damaging Het
Ddx50 A T 10: 62,621,566 (GRCm38) probably null Het
Dpp6 A G 5: 27,049,628 (GRCm38) T14A probably damaging Het
Echs1 C A 7: 140,113,069 (GRCm38) Q51H possibly damaging Het
Ecm2 A T 13: 49,530,307 (GRCm38) D587V probably damaging Het
Ect2l A T 10: 18,140,397 (GRCm38) Y666N possibly damaging Het
Epha2 G A 4: 141,316,912 (GRCm38) G342S probably benign Het
Fbxo33 C A 12: 59,206,079 (GRCm38) K211N probably benign Het
Fchsd2 A G 7: 101,259,776 (GRCm38) probably null Het
Fen1 A G 19: 10,200,687 (GRCm38) V131A probably damaging Het
Fetub C T 16: 22,932,331 (GRCm38) R143C probably damaging Het
Flnb A G 14: 7,892,092 (GRCm38) E587G probably damaging Het
Foxd3 A G 4: 99,657,240 (GRCm38) T206A possibly damaging Het
Fut1 A G 7: 45,619,306 (GRCm38) E228G possibly damaging Het
Galnt13 T C 2: 54,933,548 (GRCm38) F379L probably damaging Het
Gcnt2 A C 13: 40,861,241 (GRCm38) E296A probably damaging Het
Gm7145 T A 1: 117,986,140 (GRCm38) C251S probably damaging Het
Gpam G A 19: 55,070,985 (GRCm38) P810L probably damaging Het
Il1rl2 T A 1: 40,327,566 (GRCm38) L87M possibly damaging Het
Itgae A G 11: 73,145,601 (GRCm38) S1122G probably damaging Het
Kcnh7 T A 2: 63,182,226 (GRCm38) D46V probably damaging Het
Kcnn3 T G 3: 89,645,523 (GRCm38) Y511* probably null Het
Kdm3b T A 18: 34,793,005 (GRCm38) I66N probably damaging Het
Klk1b27 A T 7: 44,054,550 (GRCm38) H39L probably benign Het
Kmo C T 1: 175,659,695 (GRCm38) T404I possibly damaging Het
Krt222 C T 11: 99,235,058 (GRCm38) probably null Het
Magi3 G C 3: 104,015,697 (GRCm38) H1235D probably benign Het
Mapk8ip1 C A 2: 92,389,244 (GRCm38) G81C probably damaging Het
Med15 G A 16: 17,652,745 (GRCm38) Q583* probably null Het
Mroh2a T C 1: 88,256,754 (GRCm38) V1453A probably benign Het
Naip2 A T 13: 100,152,137 (GRCm38) F1193L probably damaging Het
Nop58 T A 1: 59,702,855 (GRCm38) M181K probably damaging Het
Npepps A T 11: 97,213,790 (GRCm38) V796D probably damaging Het
Nr1d1 A G 11: 98,770,537 (GRCm38) F301S probably damaging Het
Nynrin G A 14: 55,868,028 (GRCm38) V832I probably damaging Het
Or13a28 C A 7: 140,638,433 (GRCm38) S244Y probably damaging Het
Or1j14 T A 2: 36,528,341 (GRCm38) C310S probably benign Het
Or2ak7 A T 11: 58,684,004 (GRCm38) T44S possibly damaging Het
Or4e1 T A 14: 52,463,895 (GRCm38) Y38F probably damaging Het
Or8k1 T A 2: 86,217,222 (GRCm38) T163S possibly damaging Het
Phrf1 T A 7: 141,237,673 (GRCm38) C132S probably damaging Het
Plekhn1 T C 4: 156,230,558 (GRCm38) probably null Het
Polr2a G A 11: 69,744,226 (GRCm38) T569M probably damaging Het
Prr29 A G 11: 106,376,632 (GRCm38) probably null Het
Rsf1 CG CGACGGCGGAG 7: 97,579,908 (GRCm38) probably benign Homo
Sc5d T C 9: 42,255,421 (GRCm38) E274G probably benign Het
Serpina1d A T 12: 103,764,828 (GRCm38) probably null Het
Serpinb11 T A 1: 107,372,242 (GRCm38) I106N probably damaging Het
Setd2 G A 9: 110,548,665 (GRCm38) R516K probably damaging Het
Sirt2 G T 7: 28,787,797 (GRCm38) C291F probably damaging Het
Stac3 T C 10: 127,508,175 (GRCm38) V314A probably damaging Het
Stat6 C T 10: 127,657,712 (GRCm38) probably null Het
Strn3 A G 12: 51,610,107 (GRCm38) V712A probably damaging Het
Tmc5 G T 7: 118,634,214 (GRCm38) G84C possibly damaging Het
Tnik C A 3: 28,650,179 (GRCm38) L996I probably damaging Het
Trim30d G T 7: 104,487,610 (GRCm38) T129K probably damaging Het
Triml1 G T 8: 43,138,756 (GRCm38) Y188* probably null Het
Trpc7 A G 13: 56,773,892 (GRCm38) Y760H probably damaging Het
Uaca G A 9: 60,870,044 (GRCm38) R571Q probably damaging Het
Ubash3a A T 17: 31,239,272 (GRCm38) Q575L possibly damaging Het
Usp49 T A 17: 47,672,902 (GRCm38) C61* probably null Het
Vmn2r18 A T 5: 151,584,651 (GRCm38) V336E probably damaging Het
Vwa8 T C 14: 79,086,662 (GRCm38) V1135A probably benign Het
Zcchc4 T C 5: 52,783,161 (GRCm38) V24A probably benign Het
Zfp354c A G 11: 50,814,971 (GRCm38) Y426H probably benign Het
Other mutations in Myh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Myh13 APN 11 67,342,488 (GRCm38) missense probably damaging 1.00
IGL00808:Myh13 APN 11 67,335,004 (GRCm38) critical splice donor site probably null
IGL00822:Myh13 APN 11 67,361,328 (GRCm38) missense probably damaging 0.98
IGL00823:Myh13 APN 11 67,355,947 (GRCm38) missense probably benign 0.00
IGL00945:Myh13 APN 11 67,348,006 (GRCm38) missense probably null 1.00
IGL01414:Myh13 APN 11 67,342,472 (GRCm38) missense probably benign 0.02
IGL01482:Myh13 APN 11 67,352,068 (GRCm38) missense probably benign
IGL01523:Myh13 APN 11 67,347,943 (GRCm38) missense possibly damaging 0.73
IGL01723:Myh13 APN 11 67,369,219 (GRCm38) unclassified probably benign
IGL01997:Myh13 APN 11 67,367,166 (GRCm38) missense probably benign 0.14
IGL02369:Myh13 APN 11 67,360,274 (GRCm38) unclassified probably benign
IGL02478:Myh13 APN 11 67,369,378 (GRCm38) missense probably benign
IGL02663:Myh13 APN 11 67,354,927 (GRCm38) nonsense probably null
IGL02851:Myh13 APN 11 67,348,916 (GRCm38) missense possibly damaging 0.92
IGL02863:Myh13 APN 11 67,332,541 (GRCm38) missense probably damaging 1.00
IGL02929:Myh13 APN 11 67,367,165 (GRCm38) missense probably damaging 1.00
IGL02979:Myh13 APN 11 67,334,962 (GRCm38) missense possibly damaging 0.72
IGL03065:Myh13 APN 11 67,344,853 (GRCm38) missense probably damaging 0.99
IGL03214:Myh13 APN 11 67,353,585 (GRCm38) missense possibly damaging 0.79
IGL03223:Myh13 APN 11 67,350,242 (GRCm38) missense probably benign 0.39
IGL03231:Myh13 APN 11 67,351,991 (GRCm38) missense possibly damaging 0.94
IGL03407:Myh13 APN 11 67,352,152 (GRCm38) missense probably damaging 1.00
3-1:Myh13 UTSW 11 67,351,951 (GRCm38) splice site probably benign
P0042:Myh13 UTSW 11 67,334,991 (GRCm38) missense probably benign 0.00
R0047:Myh13 UTSW 11 67,367,237 (GRCm38) missense probably benign 0.00
R0047:Myh13 UTSW 11 67,367,237 (GRCm38) missense probably benign 0.00
R0379:Myh13 UTSW 11 67,369,295 (GRCm38) unclassified probably benign
R0496:Myh13 UTSW 11 67,348,815 (GRCm38) missense probably damaging 1.00
R0584:Myh13 UTSW 11 67,360,374 (GRCm38) nonsense probably null
R0595:Myh13 UTSW 11 67,344,846 (GRCm38) missense probably benign 0.03
R0621:Myh13 UTSW 11 67,341,232 (GRCm38) missense probably damaging 0.98
R0834:Myh13 UTSW 11 67,349,610 (GRCm38) missense possibly damaging 0.88
R0893:Myh13 UTSW 11 67,334,601 (GRCm38) missense probably damaging 1.00
R0964:Myh13 UTSW 11 67,345,002 (GRCm38) missense probably benign 0.02
R0973:Myh13 UTSW 11 67,332,520 (GRCm38) missense probably damaging 1.00
R0973:Myh13 UTSW 11 67,332,520 (GRCm38) missense probably damaging 1.00
R0974:Myh13 UTSW 11 67,332,520 (GRCm38) missense probably damaging 1.00
R1028:Myh13 UTSW 11 67,356,181 (GRCm38) missense possibly damaging 0.71
R1112:Myh13 UTSW 11 67,354,750 (GRCm38) missense probably damaging 1.00
R1283:Myh13 UTSW 11 67,370,921 (GRCm38) missense probably damaging 1.00
R1288:Myh13 UTSW 11 67,353,718 (GRCm38) missense probably benign 0.00
R1386:Myh13 UTSW 11 67,370,950 (GRCm38) missense possibly damaging 0.79
R1457:Myh13 UTSW 11 67,331,046 (GRCm38) missense probably damaging 0.97
R1503:Myh13 UTSW 11 67,353,674 (GRCm38) missense probably benign 0.43
R1574:Myh13 UTSW 11 67,362,581 (GRCm38) unclassified probably benign
R1673:Myh13 UTSW 11 67,352,119 (GRCm38) missense possibly damaging 0.79
R1693:Myh13 UTSW 11 67,341,484 (GRCm38) missense possibly damaging 0.95
R1763:Myh13 UTSW 11 67,334,576 (GRCm38) missense probably benign
R2029:Myh13 UTSW 11 67,361,289 (GRCm38) missense probably benign 0.03
R2030:Myh13 UTSW 11 67,350,238 (GRCm38) missense probably benign
R2247:Myh13 UTSW 11 67,334,558 (GRCm38) missense probably damaging 0.96
R2393:Myh13 UTSW 11 67,340,358 (GRCm38) missense possibly damaging 0.93
R2395:Myh13 UTSW 11 67,364,922 (GRCm38) missense probably benign 0.12
R2884:Myh13 UTSW 11 67,337,643 (GRCm38) missense probably benign 0.27
R3696:Myh13 UTSW 11 67,345,044 (GRCm38) missense possibly damaging 0.55
R3786:Myh13 UTSW 11 67,327,188 (GRCm38) missense probably benign 0.01
R3875:Myh13 UTSW 11 67,358,194 (GRCm38) missense probably benign 0.26
R3918:Myh13 UTSW 11 67,329,238 (GRCm38) missense probably benign 0.00
R4061:Myh13 UTSW 11 67,330,889 (GRCm38) missense possibly damaging 0.71
R4160:Myh13 UTSW 11 67,364,810 (GRCm38) intron probably benign
R4183:Myh13 UTSW 11 67,349,610 (GRCm38) missense possibly damaging 0.88
R4392:Myh13 UTSW 11 67,344,881 (GRCm38) splice site probably null
R4639:Myh13 UTSW 11 67,341,551 (GRCm38) missense possibly damaging 0.91
R4670:Myh13 UTSW 11 67,364,738 (GRCm38) nonsense probably null
R4783:Myh13 UTSW 11 67,341,270 (GRCm38) missense probably damaging 1.00
R4877:Myh13 UTSW 11 67,337,651 (GRCm38) missense probably damaging 0.99
R5250:Myh13 UTSW 11 67,327,259 (GRCm38) nonsense probably null
R5278:Myh13 UTSW 11 67,334,564 (GRCm38) missense probably benign 0.00
R5371:Myh13 UTSW 11 67,344,790 (GRCm38) splice site probably null
R5479:Myh13 UTSW 11 67,348,822 (GRCm38) missense probably damaging 0.97
R5510:Myh13 UTSW 11 67,337,723 (GRCm38) missense probably benign 0.05
R5690:Myh13 UTSW 11 67,329,275 (GRCm38) missense probably damaging 1.00
R5797:Myh13 UTSW 11 67,335,002 (GRCm38) missense possibly damaging 0.66
R5823:Myh13 UTSW 11 67,360,468 (GRCm38) missense probably damaging 1.00
R5877:Myh13 UTSW 11 67,353,658 (GRCm38) missense possibly damaging 0.78
R6041:Myh13 UTSW 11 67,364,730 (GRCm38) missense probably damaging 1.00
R6175:Myh13 UTSW 11 67,354,762 (GRCm38) missense probably benign 0.00
R6454:Myh13 UTSW 11 67,350,365 (GRCm38) missense probably benign 0.03
R6617:Myh13 UTSW 11 67,361,400 (GRCm38) missense probably benign 0.00
R6707:Myh13 UTSW 11 67,350,260 (GRCm38) missense probably damaging 1.00
R6747:Myh13 UTSW 11 67,350,419 (GRCm38) missense probably damaging 0.99
R6823:Myh13 UTSW 11 67,356,158 (GRCm38) missense probably benign
R6911:Myh13 UTSW 11 67,354,927 (GRCm38) nonsense probably null
R6997:Myh13 UTSW 11 67,327,154 (GRCm38) nonsense probably null
R7033:Myh13 UTSW 11 67,369,316 (GRCm38) missense possibly damaging 0.92
R7145:Myh13 UTSW 11 67,354,740 (GRCm38) missense probably benign 0.08
R7232:Myh13 UTSW 11 67,348,846 (GRCm38) missense probably damaging 1.00
R7428:Myh13 UTSW 11 67,332,564 (GRCm38) missense probably damaging 1.00
R7448:Myh13 UTSW 11 67,364,460 (GRCm38) critical splice acceptor site probably null
R7474:Myh13 UTSW 11 67,367,711 (GRCm38) missense
R7474:Myh13 UTSW 11 67,327,164 (GRCm38) missense possibly damaging 0.93
R7766:Myh13 UTSW 11 67,358,329 (GRCm38) missense probably benign 0.37
R7809:Myh13 UTSW 11 67,350,341 (GRCm38) missense probably benign 0.14
R7813:Myh13 UTSW 11 67,327,230 (GRCm38) missense probably benign 0.27
R7953:Myh13 UTSW 11 67,340,380 (GRCm38) missense probably damaging 1.00
R8085:Myh13 UTSW 11 67,334,787 (GRCm38) missense probably benign 0.00
R8397:Myh13 UTSW 11 67,350,287 (GRCm38) missense possibly damaging 0.62
R8434:Myh13 UTSW 11 67,363,185 (GRCm38) critical splice acceptor site probably null
R8490:Myh13 UTSW 11 67,364,525 (GRCm38) missense probably damaging 0.98
R8676:Myh13 UTSW 11 67,342,485 (GRCm38) missense probably damaging 1.00
R8681:Myh13 UTSW 11 67,352,134 (GRCm38) missense possibly damaging 0.49
R8777:Myh13 UTSW 11 67,361,335 (GRCm38) missense possibly damaging 0.92
R8777-TAIL:Myh13 UTSW 11 67,361,335 (GRCm38) missense possibly damaging 0.92
R8965:Myh13 UTSW 11 67,364,606 (GRCm38) missense probably benign 0.00
R9088:Myh13 UTSW 11 67,352,059 (GRCm38) missense probably damaging 1.00
R9151:Myh13 UTSW 11 67,361,323 (GRCm38) missense probably damaging 1.00
R9154:Myh13 UTSW 11 67,362,492 (GRCm38) missense probably benign
R9182:Myh13 UTSW 11 67,337,753 (GRCm38) missense probably damaging 1.00
R9332:Myh13 UTSW 11 67,363,283 (GRCm38) missense possibly damaging 0.57
R9393:Myh13 UTSW 11 67,352,068 (GRCm38) missense probably benign
R9446:Myh13 UTSW 11 67,364,499 (GRCm38) missense probably benign 0.01
R9474:Myh13 UTSW 11 67,364,886 (GRCm38) missense
R9690:Myh13 UTSW 11 67,358,368 (GRCm38) missense probably damaging 1.00
R9761:Myh13 UTSW 11 67,360,468 (GRCm38) missense probably damaging 1.00
R9778:Myh13 UTSW 11 67,358,190 (GRCm38) missense probably damaging 0.98
Z1176:Myh13 UTSW 11 67,329,295 (GRCm38) missense possibly damaging 0.93
Z1177:Myh13 UTSW 11 67,364,591 (GRCm38) missense possibly damaging 0.93
Z1177:Myh13 UTSW 11 67,350,452 (GRCm38) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TGTTTGGATGGTCTCTCCCAAG -3'
(R):5'- ATCAGGGGCCATTGCATGAAG -3'

Sequencing Primer
(F):5'- GGTCTCTCCCAAGCCCCC -3'
(R):5'- TCTGAGCCTTAGGGAACACTAG -3'
Posted On 2018-02-28