Incidental Mutation 'R4767:Myo5a'
ID 366222
Institutional Source Beutler Lab
Gene Symbol Myo5a
Ensembl Gene ENSMUSG00000034593
Gene Name myosin VA
Synonyms 9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA
MMRRC Submission 042408-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R4767 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 75071015-75223688 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75144076 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 317 (I317T)
Ref Sequence ENSEMBL: ENSMUSP00000117493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123128] [ENSMUST00000123531] [ENSMUST00000136731] [ENSMUST00000155282]
AlphaFold Q99104
Predicted Effect probably damaging
Transcript: ENSMUST00000123128
AA Change: I317T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: I317T

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 possibly damaging
Transcript: ENSMUST00000136731
AA Change: I317T

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: I317T

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 noncoding transcript
Transcript: ENSMUST00000142181
Predicted Effect probably damaging
Transcript: ENSMUST00000155282
AA Change: I317T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: I317T

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 0.8705 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 95% (62/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,138,977 (GRCm38) probably null Het
Aig1 T C 10: 13,801,858 (GRCm38) N130S probably damaging Het
Alx1 A T 10: 103,025,186 (GRCm38) Y160* probably null Het
Ap4e1 T C 2: 127,060,438 (GRCm38) I755T probably benign Het
Apoc3 C A 9: 46,234,535 (GRCm38) E21* probably null Het
Atp9b G T 18: 80,753,070 (GRCm38) H919Q probably damaging Het
Cemip T G 7: 83,973,306 (GRCm38) Y555S probably damaging Het
Cic T C 7: 25,271,600 (GRCm38) V252A possibly damaging Het
Cracr2a A T 6: 127,611,507 (GRCm38) N210Y probably damaging Het
Crocc2 G A 1: 93,202,856 (GRCm38) R953Q possibly damaging Het
Csnk1d A G 11: 120,969,128 (GRCm38) S318P probably benign Het
Ddx21 A G 10: 62,591,972 (GRCm38) L384P probably damaging Het
Dnah5 C T 15: 28,270,474 (GRCm38) T974I probably benign Het
Duox1 A G 2: 122,333,441 (GRCm38) Y863C possibly damaging Het
Epg5 C A 18: 78,023,283 (GRCm38) P2133T possibly damaging Het
Ephb6 A T 6: 41,614,185 (GRCm38) Q92L possibly damaging Het
Ercc4 C A 16: 13,122,095 (GRCm38) A73D probably damaging Het
Eva1c A T 16: 90,904,347 (GRCm38) Y290F probably damaging Het
Galnt5 T A 2: 58,028,144 (GRCm38) V798E possibly damaging Het
Haus4 T C 14: 54,548,885 (GRCm38) E149G probably damaging Het
Ighv1-13 A G 12: 114,630,936 (GRCm38) Y86C unknown Het
Igkv9-120 G T 6: 68,050,367 (GRCm38) R88S possibly damaging Het
Lama3 T C 18: 12,500,563 (GRCm38) V1584A probably benign Het
Lamb1 A G 12: 31,308,011 (GRCm38) E1119G probably damaging Het
Lao1 T C 4: 118,967,988 (GRCm38) L335P probably damaging Het
Mindy4 A G 6: 55,260,565 (GRCm38) D375G probably damaging Het
Nhlrc2 G A 19: 56,570,466 (GRCm38) V128I probably benign Het
Nlrp2 C T 7: 5,328,024 (GRCm38) D458N probably damaging Het
Olfr107 T A 17: 37,406,200 (GRCm38) C217* probably null Het
Olfr1497 A T 19: 13,795,045 (GRCm38) C189S probably damaging Het
Olfr347 A T 2: 36,734,323 (GRCm38) M1L probably benign Het
Olfr76 G T 19: 12,119,936 (GRCm38) H247N probably damaging Het
Olfr938 T C 9: 39,078,692 (GRCm38) T18A possibly damaging Het
Parp8 T C 13: 116,868,536 (GRCm38) H663R probably damaging Het
Pax6 T C 2: 105,695,360 (GRCm38) S377P probably benign Het
Pi15 A G 1: 17,602,766 (GRCm38) D63G probably benign Het
Plaa A G 4: 94,586,258 (GRCm38) probably benign Het
Rbm5 C A 9: 107,745,213 (GRCm38) W546C probably damaging Het
Rnf123 C A 9: 108,052,089 (GRCm38) C1257F probably damaging Het
Rnf185 A G 11: 3,432,551 (GRCm38) S45P possibly damaging Het
Sh3bp1 T C 15: 78,904,497 (GRCm38) S241P possibly damaging Het
Slfn8 G A 11: 83,003,197 (GRCm38) A872V possibly damaging Het
Smoc1 G A 12: 81,104,773 (GRCm38) probably null Het
Sox14 A T 9: 99,875,633 (GRCm38) W18R probably damaging Het
Spata31d1a T C 13: 59,701,155 (GRCm38) E1053G probably benign Het
Syne1 T A 10: 5,344,866 (GRCm38) K1246* probably null Het
Tbrg4 A C 11: 6,620,909 (GRCm38) S188A probably benign Het
Thnsl2 A T 6: 71,134,295 (GRCm38) D196E probably damaging Het
Tmem266 C T 9: 55,380,741 (GRCm38) T34I probably damaging Het
Tmem59l C A 8: 70,486,098 (GRCm38) R111L probably benign Het
Tpr T C 1: 150,430,529 (GRCm38) probably benign Het
Trpc6 T C 9: 8,643,686 (GRCm38) S491P probably damaging Het
Tspan10 A T 11: 120,446,166 (GRCm38) N254I probably damaging Het
Ubox5 A T 2: 130,591,894 (GRCm38) L511Q probably damaging Het
Vmn1r183 TATCCATC TATC 7: 24,055,106 (GRCm38) probably null Het
Vmn2r4 C T 3: 64,390,976 (GRCm38) C577Y probably damaging Het
Vmn2r86 A T 10: 130,455,737 (GRCm38) M53K probably benign Het
Zfp948 T A 17: 21,588,307 (GRCm38) I587N possibly damaging 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
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
R6344:Myo5a UTSW 9 75,160,509 (GRCm38) missense probably benign 0.09
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'- CCCACATTGCTAAACTGCCTAG -3'
(R):5'- TGCCTAGCATGTGCAGAGAC -3'

Sequencing Primer
(F):5'- GCTAAACTGCCTAGTATGTTACTGTC -3'
(R):5'- TAGCATGTGCAGAGACCCCTAG -3'
Posted On 2015-12-21