Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Myo5a'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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