Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Myo5a'

395827

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75071015-75223688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75152020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 510 (D510G)

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: D510G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: D510G

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 damaging
Transcript: ENSMUST00000136731
AA Change: D510G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: D510G

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

noncoding transcript
Transcript: ENSMUST00000142181

Predicted Effect

probably damaging
Transcript: ENSMUST00000155282
AA Change: D510G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: D510G

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

0.9748

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,425,593 (GRCm38)		noncoding transcript	Het
4932415D10Rik	G	T	10: 82,283,667 (GRCm38)	A4503E	probably damaging	Het
Adgrv1	C	T	13: 81,095,487 (GRCm38)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,720,133 (GRCm38)	G660D	probably damaging	Het
Arap2	A	G	5: 62,654,049 (GRCm38)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,413 (GRCm38)		probably null	Het
C1rb	A	T	6: 124,580,313 (GRCm38)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,800,738 (GRCm38)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,954,661 (GRCm38)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,575,476 (GRCm38)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,634,957 (GRCm38)		probably benign	Het
Flt4	T	A	11: 49,627,159 (GRCm38)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,548,921 (GRCm38)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,624,038 (GRCm38)	N550T	probably benign	Het
Hcn3	C	A	3: 89,149,923 (GRCm38)	R456L	probably damaging	Het
Htt	T	C	5: 34,824,395 (GRCm38)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,786,849 (GRCm38)	D203G	probably damaging	Het
Itga10	G	T	3: 96,648,164 (GRCm38)	V145L	probably benign	Het
Kcnh6	A	G	11: 106,017,254 (GRCm38)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,929,671 (GRCm38)	S431P	probably damaging	Het
Mmp27	A	T	9: 7,579,000 (GRCm38)	D418V	probably damaging	Het
Mmp27	T	A	9: 7,572,158 (GRCm38)	W120R	probably damaging	Het
Neto1	T	C	18: 86,398,281 (GRCm38)	S38P	probably benign	Het
Nos3	A	G	5: 24,368,918 (GRCm38)		probably benign	Het
Nuggc	C	T	14: 65,635,090 (GRCm38)	R512*	probably null	Het
Oas1e	T	A	5: 120,794,264 (GRCm38)	K105*	probably null	Het
Olfr135	A	C	17: 38,208,317 (GRCm38)	E24A	possibly damaging	Het
Olfr512	T	C	7: 108,713,812 (GRCm38)	F141S	probably damaging	Het
Omd	T	A	13: 49,589,698 (GRCm38)	S75T	possibly damaging	Het
Pbrm1	A	G	14: 31,032,530 (GRCm38)	N190S	probably benign	Het
Picalm	T	C	7: 90,170,633 (GRCm38)	F85L	probably damaging	Het
Polg	A	G	7: 79,460,300 (GRCm38)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,581,921 (GRCm38)	D1017G	probably damaging	Het
Prss56	G	C	1: 87,188,111 (GRCm38)	R569P	probably damaging	Het
Rab6b	G	A	9: 103,140,384 (GRCm38)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,131,385 (GRCm38)	T332A	probably benign	Het
Rheb	A	T	5: 24,807,641 (GRCm38)	M115K	probably benign	Het
Rnf149	A	T	1: 39,555,656 (GRCm38)	D321E	probably benign	Het
Rps28	C	T	17: 33,823,203 (GRCm38)		probably null	Het
Slc6a20b	A	G	9: 123,595,054 (GRCm38)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,469,300 (GRCm38)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,085,763 (GRCm38)	M573I	probably damaging	Het
Srp68	C	T	11: 116,248,747 (GRCm38)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,548,975 (GRCm38)	V346I	probably benign	Het
Syne2	A	G	12: 75,952,826 (GRCm38)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,734,192 (GRCm38)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,846,845 (GRCm38)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,288,451 (GRCm38)		probably null	Het
Vmn2r72	T	A	7: 85,737,853 (GRCm38)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,202 (GRCm38)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,309,073 (GRCm38)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,693,636 (GRCm38)		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
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'- GTGTGCTCCTTGATGACATTCC -3'
(R):5'- GGGAAATAAATTCTCCTAGCTTCAC -3'

Sequencing Primer
(F):5'- GTGCTCCTTGATGACATTCCTTATG -3'
(R):5'- AGCCGGATGACCTAAGTGCATTC -3'

Posted On

2016-06-21