Incidental Mutation 'R5797:Myh13'
ID 501527
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 043209-MU
Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R5797 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 67321658-67371586 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67335002 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 335 (D335E)
Ref Sequence ENSEMBL: ENSMUSP00000137731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]
AlphaFold B1AR69
Predicted Effect possibly damaging
Transcript: ENSMUST00000081911
AA Change: D335E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: D335E

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 possibly damaging
Transcript: ENSMUST00000108684
AA Change: D335E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: D335E

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 possibly damaging
Transcript: ENSMUST00000180845
AA Change: D335E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: D335E

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A T 8: 36,498,415 (GRCm38) K30* probably null Het
Abhd18 T C 3: 40,933,551 (GRCm38) F277L probably benign Het
Acsf2 A G 11: 94,571,679 (GRCm38) V170A probably damaging Het
Amz2 G T 11: 109,427,079 (GRCm38) probably benign Het
Atp4a A G 7: 30,712,649 (GRCm38) Y65C probably damaging Het
Canx T C 11: 50,301,017 (GRCm38) I356V probably benign Het
Cfap54 T A 10: 92,967,576 (GRCm38) T1535S probably benign Het
Cts3 A T 13: 61,568,392 (GRCm38) W52R probably damaging Het
Cyb5rl A T 4: 107,084,207 (GRCm38) E276D possibly damaging Het
Dhx30 T C 9: 110,098,820 (GRCm38) N78S probably damaging Het
Dmap1 A T 4: 117,675,480 (GRCm38) V333E possibly damaging Het
Dnah10 A G 5: 124,821,386 (GRCm38) E3744G probably benign Het
Efcab6 C T 15: 83,924,277 (GRCm38) C828Y possibly damaging Het
Fam227b A C 2: 126,007,334 (GRCm38) I326S probably benign Het
Fbrs C A 7: 127,487,291 (GRCm38) H604Q probably damaging Het
Fshr T G 17: 89,011,075 (GRCm38) N129T probably damaging Het
Gja3 T C 14: 57,035,713 (GRCm38) R401G probably damaging Het
Gm572 G A 4: 148,666,798 (GRCm38) M209I probably benign Het
Gne G A 4: 44,060,030 (GRCm38) T121M probably damaging Het
Gnmt T C 17: 46,726,379 (GRCm38) N160D probably damaging Het
Kalrn T C 16: 34,212,249 (GRCm38) Y1125C probably damaging Het
Kif2a A T 13: 106,975,376 (GRCm38) C524S probably damaging Het
Kl A G 5: 150,991,538 (GRCm38) N910S possibly damaging Het
Lrrtm2 C T 18: 35,213,706 (GRCm38) R181H probably damaging Het
Mkln1 A G 6: 31,433,069 (GRCm38) D214G probably benign Het
Muc5b C A 7: 141,851,582 (GRCm38) T909N unknown Het
Myo5b A G 18: 74,701,521 (GRCm38) E884G probably benign Het
Naip1 T C 13: 100,444,526 (GRCm38) D71G possibly damaging Het
Nxpe4 T A 9: 48,396,538 (GRCm38) I314N possibly damaging Het
Pcnt T C 10: 76,392,756 (GRCm38) E1525G probably benign Het
Pkd1 T A 17: 24,592,641 (GRCm38) H153Q possibly damaging Het
Prkdc T A 16: 15,737,834 (GRCm38) Y2157* probably null Het
Scd3 T C 19: 44,215,511 (GRCm38) I46T probably benign Het
Sdha A T 13: 74,334,357 (GRCm38) M279K probably damaging Het
Slco4c1 A G 1: 96,819,104 (GRCm38) V671A probably benign Het
Slitrk3 T A 3: 73,048,629 (GRCm38) T937S probably damaging Het
Sncaip A T 18: 52,898,204 (GRCm38) T442S probably benign Het
Sptb T C 12: 76,603,699 (GRCm38) D1748G possibly damaging Het
Vmn2r12 A T 5: 109,085,870 (GRCm38) C825* probably null 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
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
R6244:Myh13 UTSW 11 67,362,501 (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'- GCCAGAACTAATTGGTAAGCTCAG -3'
(R):5'- AGCCTGCCTTGTAGAACTTTG -3'

Sequencing Primer
(F):5'- AAGCTCAGAGGTGTTCTTAGC -3'
(R):5'- TCTGTGAGTCCAATCAGG -3'
Posted On 2017-12-01