Incidental Mutation 'R6344:Myo5a'
ID 514058
Institutional Source Beutler Lab
Gene Symbol Myo5a
Ensembl Gene ENSMUSG00000034593
Gene Name myosin VA
Synonyms 9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA
MMRRC Submission 044498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6344 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 75071015-75223688 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75160509 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 615 (V615D)
Ref Sequence ENSEMBL: ENSMUSP00000120444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123128] [ENSMUST00000123531] [ENSMUST00000136731] [ENSMUST00000155282]
AlphaFold Q99104
Predicted Effect probably benign
Transcript: ENSMUST00000123128
AA Change: V615D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: V615D

DomainStartEndE-ValueType
MYSc 63 764 N/A SMART
IQ 765 787 3.65e-4 SMART
IQ 788 810 1.56e-3 SMART
IQ 813 835 3.05e-6 SMART
IQ 836 858 8.38e-4 SMART
IQ 861 883 1.09e-2 SMART
IQ 884 906 6.97e0 SMART
coiled coil region 1153 1234 N/A INTRINSIC
coiled coil region 1314 1364 N/A INTRINSIC
coiled coil region 1406 1443 N/A INTRINSIC
DIL 1685 1790 2.47e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123531
Predicted Effect probably benign
Transcript: ENSMUST00000136731
AA Change: V615D

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: V615D

DomainStartEndE-ValueType
MYSc 63 764 N/A SMART
IQ 765 787 3.65e-4 SMART
IQ 788 810 1.56e-3 SMART
IQ 813 835 3.05e-6 SMART
IQ 836 858 8.38e-4 SMART
IQ 861 883 1.09e-2 SMART
IQ 884 906 6.97e0 SMART
coiled coil region 1153 1234 N/A INTRINSIC
coiled coil region 1314 1418 N/A INTRINSIC
DIL 1660 1765 2.47e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155282
AA Change: V615D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: V615D

DomainStartEndE-ValueType
MYSc 63 764 N/A SMART
IQ 765 787 3.65e-4 SMART
IQ 788 810 1.56e-3 SMART
IQ 813 835 3.05e-6 SMART
IQ 836 858 8.38e-4 SMART
IQ 861 883 1.09e-2 SMART
IQ 884 906 6.97e0 SMART
coiled coil region 1153 1234 N/A INTRINSIC
coiled coil region 1339 1445 N/A INTRINSIC
DIL 1687 1792 2.47e-51 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,437,694 (GRCm38) P707L probably damaging Het
Bbip1 A G 19: 53,931,481 (GRCm38) V23A probably benign Het
Bdnf A T 2: 109,723,677 (GRCm38) Y132F probably benign Het
C4bp T C 1: 130,656,015 (GRCm38) D72G probably benign Het
Cdcp1 T A 9: 123,182,382 (GRCm38) K343N possibly damaging Het
Cep112 A T 11: 108,519,174 (GRCm38) Y472F probably damaging Het
Cops2 A T 2: 125,858,979 (GRCm38) probably benign Het
Cyp27a1 T C 1: 74,736,849 (GRCm38) probably null Het
Dnah7a T C 1: 53,397,190 (GRCm38) I3998V probably benign Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Homo
Dnhd1 A G 7: 105,694,610 (GRCm38) I1720M probably benign Het
Fkbpl A G 17: 34,645,570 (GRCm38) K104R probably damaging Het
Helq G T 5: 100,766,728 (GRCm38) A966E probably benign Het
Iba57 G A 11: 59,158,293 (GRCm38) P350L probably damaging Het
Iqgap3 T C 3: 88,082,094 (GRCm38) probably null Het
Kcnj9 A G 1: 172,326,146 (GRCm38) V137A probably benign Het
Kif19a G A 11: 114,781,951 (GRCm38) probably null Het
Kmt2a A T 9: 44,821,859 (GRCm38) probably benign Het
Lilra5 T A 7: 4,238,786 (GRCm38) F195I probably damaging Het
Mcm9 A G 10: 53,537,937 (GRCm38) I349T probably benign Het
Mlst8 A G 17: 24,477,326 (GRCm38) L143P probably damaging Het
Mrc1 T C 2: 14,244,174 (GRCm38) F174L probably damaging Het
Muc5b T A 7: 141,862,971 (GRCm38) L3218Q possibly damaging Het
Myo1h A G 5: 114,328,715 (GRCm38) S275G probably damaging Het
Myo9b T C 8: 71,327,914 (GRCm38) L485P probably damaging Het
Nav1 A G 1: 135,450,796 (GRCm38) Y1646H probably damaging Het
Nsf A T 11: 103,861,904 (GRCm38) V539D probably damaging Het
Nutm1 A T 2: 112,248,902 (GRCm38) N889K possibly damaging Het
Olfr133 C T 17: 38,148,720 (GRCm38) A44V probably benign Het
Olfr543 A G 7: 102,477,531 (GRCm38) L113P probably damaging Het
Pcdhga2 T A 18: 37,670,762 (GRCm38) V553E probably benign Het
Pkmyt1 T C 17: 23,732,756 (GRCm38) S95P possibly damaging Het
Ranbp2 T A 10: 58,483,886 (GRCm38) probably null Het
Saxo2 T A 7: 82,634,865 (GRCm38) I262F probably damaging Het
Sco1 C T 11: 67,055,745 (GRCm38) R115W probably damaging Het
Slc27a3 G T 3: 90,387,654 (GRCm38) Y330* probably null Het
Slc6a4 C T 11: 77,018,254 (GRCm38) T364I probably damaging Het
Slit2 A G 5: 48,219,681 (GRCm38) I388V probably benign Het
Smc6 C A 12: 11,297,106 (GRCm38) probably benign Het
Snx25 C T 8: 46,035,638 (GRCm38) W747* probably null Het
Stard9 T A 2: 120,704,320 (GRCm38) M3686K probably benign Het
Syne1 T C 10: 5,022,212 (GRCm38) D8732G probably benign Het
Tcaf3 A G 6: 42,597,171 (GRCm38) S36P possibly damaging Het
Trpv6 T C 6: 41,625,422 (GRCm38) probably null Het
Tspear T C 10: 77,875,013 (GRCm38) F490L possibly damaging Het
Ttn A G 2: 76,721,852 (GRCm38) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,231 (GRCm38) E155D probably damaging Het
Urb2 G T 8: 124,031,125 (GRCm38) E1190D probably damaging Het
Washc2 G T 6: 116,258,758 (GRCm38) Q977H probably benign Het
Yars2 T A 16: 16,303,035 (GRCm38) W18R probably benign Het
Other mutations in Myo5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Myo5a APN 9 75,161,497 (GRCm38) nonsense probably null
IGL00547:Myo5a APN 9 75,141,453 (GRCm38) missense probably benign 0.00
IGL00788:Myo5a APN 9 75,168,959 (GRCm38) missense probably benign 0.15
IGL01327:Myo5a APN 9 75,187,538 (GRCm38) splice site probably benign
IGL01687:Myo5a APN 9 75,156,249 (GRCm38) missense probably benign 0.12
IGL01886:Myo5a APN 9 75,169,090 (GRCm38) splice site probably benign
IGL01945:Myo5a APN 9 75,140,671 (GRCm38) missense probably damaging 1.00
IGL02127:Myo5a APN 9 75,212,981 (GRCm38) missense probably benign 0.12
IGL02137:Myo5a APN 9 75,161,535 (GRCm38) splice site probably null
IGL02183:Myo5a APN 9 75,167,236 (GRCm38) splice site probably benign
IGL02427:Myo5a APN 9 75,176,618 (GRCm38) splice site probably benign
IGL02490:Myo5a APN 9 75,136,455 (GRCm38) missense probably damaging 1.00
IGL02574:Myo5a APN 9 75,211,147 (GRCm38) missense probably benign 0.00
IGL02886:Myo5a APN 9 75,151,887 (GRCm38) splice site probably benign
IGL02961:Myo5a APN 9 75,215,120 (GRCm38) missense probably benign 0.04
IGL03090:Myo5a APN 9 75,120,833 (GRCm38) missense probably damaging 1.00
IGL03119:Myo5a APN 9 75,174,015 (GRCm38) missense probably benign 0.01
IGL03237:Myo5a APN 9 75,129,994 (GRCm38) missense probably damaging 1.00
IGL03296:Myo5a APN 9 75,116,202 (GRCm38) missense probably damaging 1.00
naoki UTSW 9 75,161,492 (GRCm38) missense probably damaging 1.00
new_gray UTSW 9 0 () missense
nut UTSW 9 0 () splice donor site
silver_decerebrate UTSW 9 75,164,195 (GRCm38) missense probably damaging 1.00
silver_decerebrate_2 UTSW 9 75,211,126 (GRCm38) missense probably damaging 1.00
IGL02988:Myo5a UTSW 9 75,130,141 (GRCm38) splice site probably benign
IGL03050:Myo5a UTSW 9 75,146,909 (GRCm38) splice site probably null
PIT4403001:Myo5a UTSW 9 75,217,523 (GRCm38) missense probably damaging 1.00
R0047:Myo5a UTSW 9 75,156,207 (GRCm38) missense probably damaging 1.00
R0047:Myo5a UTSW 9 75,156,207 (GRCm38) missense probably damaging 1.00
R0091:Myo5a UTSW 9 75,161,492 (GRCm38) missense probably damaging 1.00
R0142:Myo5a UTSW 9 75,160,574 (GRCm38) missense probably benign 0.01
R0243:Myo5a UTSW 9 75,186,123 (GRCm38) critical splice donor site probably null
R0395:Myo5a UTSW 9 75,193,977 (GRCm38) missense probably benign 0.39
R0427:Myo5a UTSW 9 75,174,196 (GRCm38) missense probably benign 0.00
R0545:Myo5a UTSW 9 75,167,037 (GRCm38) missense possibly damaging 0.94
R0565:Myo5a UTSW 9 75,180,112 (GRCm38) missense probably benign 0.00
R0601:Myo5a UTSW 9 75,174,015 (GRCm38) missense probably benign 0.01
R1457:Myo5a UTSW 9 75,213,065 (GRCm38) missense probably damaging 0.99
R1510:Myo5a UTSW 9 75,171,551 (GRCm38) missense probably benign
R1548:Myo5a UTSW 9 75,171,746 (GRCm38) missense probably damaging 1.00
R1759:Myo5a UTSW 9 75,181,993 (GRCm38) missense possibly damaging 0.72
R1924:Myo5a UTSW 9 75,116,207 (GRCm38) missense probably damaging 1.00
R1960:Myo5a UTSW 9 75,147,857 (GRCm38) missense probably damaging 1.00
R2050:Myo5a UTSW 9 75,146,874 (GRCm38) missense probably benign 0.01
R2070:Myo5a UTSW 9 75,181,984 (GRCm38) missense probably benign 0.03
R2075:Myo5a UTSW 9 75,189,918 (GRCm38) missense probably benign 0.01
R2148:Myo5a UTSW 9 75,180,147 (GRCm38) missense probably damaging 1.00
R2201:Myo5a UTSW 9 75,217,943 (GRCm38) missense possibly damaging 0.51
R2337:Myo5a UTSW 9 75,203,801 (GRCm38) missense probably damaging 1.00
R2357:Myo5a UTSW 9 75,201,365 (GRCm38) missense probably damaging 0.99
R2392:Myo5a UTSW 9 75,209,239 (GRCm38) missense probably benign 0.02
R2432:Myo5a UTSW 9 75,212,873 (GRCm38) missense possibly damaging 0.89
R2568:Myo5a UTSW 9 75,151,897 (GRCm38) missense probably damaging 1.00
R2568:Myo5a UTSW 9 75,123,040 (GRCm38) missense probably damaging 1.00
R2932:Myo5a UTSW 9 75,196,136 (GRCm38) missense possibly damaging 0.85
R2971:Myo5a UTSW 9 75,116,202 (GRCm38) missense probably damaging 1.00
R4231:Myo5a UTSW 9 75,189,997 (GRCm38) missense possibly damaging 0.67
R4293:Myo5a UTSW 9 75,144,171 (GRCm38) missense probably benign
R4321:Myo5a UTSW 9 75,217,530 (GRCm38) missense probably damaging 0.99
R4450:Myo5a UTSW 9 75,167,176 (GRCm38) missense probably benign 0.00
R4573:Myo5a UTSW 9 75,201,297 (GRCm38) splice site probably null
R4577:Myo5a UTSW 9 75,217,545 (GRCm38) missense probably damaging 1.00
R4601:Myo5a UTSW 9 75,136,388 (GRCm38) missense probably damaging 1.00
R4690:Myo5a UTSW 9 75,153,823 (GRCm38) missense probably damaging 0.99
R4691:Myo5a UTSW 9 75,180,156 (GRCm38) missense probably damaging 0.99
R4764:Myo5a UTSW 9 75,116,336 (GRCm38) intron probably benign
R4767:Myo5a UTSW 9 75,144,076 (GRCm38) missense probably damaging 0.99
R4811:Myo5a UTSW 9 75,141,543 (GRCm38) critical splice donor site probably null
R4829:Myo5a UTSW 9 75,136,407 (GRCm38) missense probably damaging 1.00
R4863:Myo5a UTSW 9 75,217,507 (GRCm38) missense probably damaging 1.00
R4902:Myo5a UTSW 9 75,174,078 (GRCm38) missense probably benign
R4947:Myo5a UTSW 9 75,123,048 (GRCm38) missense probably damaging 1.00
R5074:Myo5a UTSW 9 75,174,156 (GRCm38) missense probably benign
R5095:Myo5a UTSW 9 75,184,389 (GRCm38) nonsense probably null
R5095:Myo5a UTSW 9 75,152,020 (GRCm38) missense probably damaging 1.00
R5254:Myo5a UTSW 9 75,130,120 (GRCm38) missense probably damaging 1.00
R5267:Myo5a UTSW 9 75,152,010 (GRCm38) missense probably damaging 1.00
R5419:Myo5a UTSW 9 75,147,897 (GRCm38) missense probably damaging 1.00
R5514:Myo5a UTSW 9 75,153,766 (GRCm38) missense probably damaging 1.00
R5629:Myo5a UTSW 9 75,203,845 (GRCm38) missense possibly damaging 0.89
R5649:Myo5a UTSW 9 75,171,719 (GRCm38) missense possibly damaging 0.92
R5661:Myo5a UTSW 9 75,167,206 (GRCm38) missense probably benign 0.02
R5665:Myo5a UTSW 9 75,144,181 (GRCm38) critical splice donor site probably null
R5719:Myo5a UTSW 9 75,151,931 (GRCm38) missense probably damaging 1.00
R5964:Myo5a UTSW 9 75,203,833 (GRCm38) missense probably benign 0.09
R6014:Myo5a UTSW 9 75,167,207 (GRCm38) nonsense probably null
R6345:Myo5a UTSW 9 75,189,913 (GRCm38) missense possibly damaging 0.77
R6644:Myo5a UTSW 9 75,146,967 (GRCm38) missense probably damaging 0.98
R6712:Myo5a UTSW 9 75,212,900 (GRCm38) missense probably benign 0.12
R6838:Myo5a UTSW 9 75,153,883 (GRCm38) critical splice donor site probably null
R6866:Myo5a UTSW 9 75,140,688 (GRCm38) missense probably damaging 1.00
R6876:Myo5a UTSW 9 75,160,490 (GRCm38) missense probably benign 0.04
R7108:Myo5a UTSW 9 75,129,992 (GRCm38) missense probably damaging 1.00
R7159:Myo5a UTSW 9 75,171,563 (GRCm38) missense probably benign 0.07
R7164:Myo5a UTSW 9 75,180,153 (GRCm38) missense probably benign 0.00
R7219:Myo5a UTSW 9 75,120,770 (GRCm38) missense probably damaging 1.00
R7497:Myo5a UTSW 9 75,197,701 (GRCm38) missense
R7620:Myo5a UTSW 9 75,164,136 (GRCm38) missense probably benign 0.41
R7719:Myo5a UTSW 9 75,144,084 (GRCm38) missense probably benign 0.01
R7810:Myo5a UTSW 9 75,169,010 (GRCm38) missense probably benign
R7810:Myo5a UTSW 9 75,160,465 (GRCm38) missense probably benign 0.09
R7866:Myo5a UTSW 9 75,203,752 (GRCm38) missense probably damaging 1.00
R7939:Myo5a UTSW 9 75,189,900 (GRCm38) missense
R8050:Myo5a UTSW 9 75,181,946 (GRCm38) missense probably damaging 0.99
R8061:Myo5a UTSW 9 75,122,957 (GRCm38) nonsense probably null
R8326:Myo5a UTSW 9 75,217,989 (GRCm38) missense probably damaging 0.98
R8529:Myo5a UTSW 9 75,212,872 (GRCm38) missense probably benign 0.02
R8824:Myo5a UTSW 9 75,167,046 (GRCm38) missense probably damaging 1.00
R8858:Myo5a UTSW 9 75,184,683 (GRCm38) missense probably damaging 0.99
R9040:Myo5a UTSW 9 75,174,059 (GRCm38) missense probably benign 0.07
R9092:Myo5a UTSW 9 75,147,132 (GRCm38) critical splice donor site probably null
R9249:Myo5a UTSW 9 75,189,997 (GRCm38) missense possibly damaging 0.67
R9274:Myo5a UTSW 9 75,189,997 (GRCm38) missense possibly damaging 0.67
R9293:Myo5a UTSW 9 75,180,030 (GRCm38) missense probably benign 0.37
R9366:Myo5a UTSW 9 75,217,518 (GRCm38) missense probably damaging 0.98
R9410:Myo5a UTSW 9 75,116,214 (GRCm38) missense probably damaging 0.98
R9644:Myo5a UTSW 9 75,136,349 (GRCm38) missense probably damaging 1.00
R9649:Myo5a UTSW 9 75,192,444 (GRCm38) missense
R9748:Myo5a UTSW 9 75,184,683 (GRCm38) missense probably damaging 0.99
R9766:Myo5a UTSW 9 75,171,632 (GRCm38) missense probably damaging 0.99
X0010:Myo5a UTSW 9 75,185,905 (GRCm38) missense probably damaging 1.00
Z1177:Myo5a UTSW 9 75,186,036 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- CCAGTTGGTGTTTAGAGTATAACG -3'
(R):5'- TTCACGTGAAGATCCTGTCCTC -3'

Sequencing Primer
(F):5'- AGCGTCTCCATTGGAAGTC -3'
(R):5'- AAGATCCTGTCCTCTAGGCTGAAG -3'
Posted On 2018-04-27