Mutagenetix > Incidental Mutation

Incidental Mutation 'R5514:Myo5a'

440242

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

043074-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74978297-75130970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75061048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 518 (G518D)

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: G518D

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

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: G518D

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: G518D

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

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: G518D

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 damaging
Transcript: ENSMUST00000155282
AA Change: G518D

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

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: G518D

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

Coding Region Coverage

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,390,520 (GRCm39)	S382G	probably damaging	Het
Agr2	G	A	12: 36,046,090 (GRCm39)	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,108,867 (GRCm39)	S423P	probably damaging	Het
Ampd1	C	T	3: 102,986,488 (GRCm39)	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,550,304 (GRCm39)	P670T	probably benign	Het
Blk	T	G	14: 63,615,930 (GRCm39)	D333A	probably damaging	Het
Bmi1	T	C	2: 18,686,714 (GRCm39)	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,072,790 (GRCm39)	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,879,698 (GRCm39)	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,961,270 (GRCm39)	A100T	probably damaging	Het
Cfap251	G	T	5: 123,425,829 (GRCm39)		probably null	Het
Chst4	G	T	8: 110,756,606 (GRCm39)	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,649,844 (GRCm39)	I680T	probably damaging	Het
Ddx55	T	C	5: 124,694,875 (GRCm39)	V101A	probably damaging	Het
Ddx60	A	T	8: 62,411,091 (GRCm39)	E451V	probably damaging	Het
Dffa	T	A	4: 149,190,772 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,861,832 (GRCm39)	R796G	probably damaging	Het
Dzank1	T	A	2: 144,323,605 (GRCm39)	M614L	probably benign	Het
Elf2	G	T	3: 51,215,555 (GRCm39)	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,741,793 (GRCm39)	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,258,858 (GRCm39)	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm4787	A	G	12: 81,425,102 (GRCm39)	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,336,802 (GRCm39)	Q13R	probably benign	Het
Itpkb	G	A	1: 180,241,474 (GRCm39)	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,053,928 (GRCm39)	S263T	probably damaging	Het
Krba1	T	G	6: 48,390,429 (GRCm39)	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Mtor	T	A	4: 148,630,901 (GRCm39)	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,341,462 (GRCm39)	V1100E	possibly damaging	Het
Nalcn	A	T	14: 123,521,123 (GRCm39)	I1594N	probably benign	Het
Nav1	C	G	1: 135,398,299 (GRCm39)	G761A	probably benign	Het
Ncoa2	A	T	1: 13,251,445 (GRCm39)	L276H	probably damaging	Het
Ndufaf7	T	C	17: 79,245,051 (GRCm39)	Y57H	probably damaging	Het
Nfkb2	A	G	19: 46,299,847 (GRCm39)	Y807C	probably damaging	Het
Nid2	A	T	14: 19,852,535 (GRCm39)	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,827,189 (GRCm39)	I134F	probably damaging	Het
Nmu	A	C	5: 76,497,979 (GRCm39)	S69A	probably damaging	Het
Or4c15b	A	T	2: 89,112,817 (GRCm39)	I220N	probably damaging	Het
Or5t7	T	C	2: 86,507,225 (GRCm39)	I151V	probably benign	Het
Pard3	A	G	8: 128,153,086 (GRCm39)	R886G	probably damaging	Het
Pde6b	G	T	5: 108,571,317 (GRCm39)	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,327,505 (GRCm39)	D450E	probably damaging	Het
Plcg1	T	C	2: 160,595,275 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,103,246 (GRCm39)	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,175,797 (GRCm39)	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,246,228 (GRCm39)	L70P	probably damaging	Het
Prr5	C	A	15: 84,587,096 (GRCm39)	P282Q	probably benign	Het
Reln	A	T	5: 22,176,883 (GRCm39)	W1928R	possibly damaging	Het
Sacm1l	A	T	9: 123,415,419 (GRCm39)	R465*	probably null	Het
Sema7a	A	G	9: 57,863,046 (GRCm39)	Y239C	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054 (GRCm39)	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,004,609 (GRCm39)	W19R	probably damaging	Het
Tmc2	T	A	2: 130,083,564 (GRCm39)	M507K	possibly damaging	Het
Unc13a	A	G	8: 72,095,795 (GRCm39)	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,081,771 (GRCm39)	P103S	probably damaging	Het
Vldlr	A	G	19: 27,221,624 (GRCm39)	E663G	probably damaging	Het
Vmn2r68	G	A	7: 84,886,767 (GRCm39)	T49I	possibly damaging	Het
Xirp2	A	T	2: 67,335,465 (GRCm39)	M95L	probably benign	Het

Other mutations in Myo5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Myo5a	APN	9	75,068,779 (GRCm39)	nonsense	probably null
IGL00547:Myo5a	APN	9	75,048,735 (GRCm39)	missense	probably benign	0.00
IGL00788:Myo5a	APN	9	75,076,241 (GRCm39)	missense	probably benign	0.15
IGL01327:Myo5a	APN	9	75,094,820 (GRCm39)	splice site	probably benign
IGL01687:Myo5a	APN	9	75,063,531 (GRCm39)	missense	probably benign	0.12
IGL01886:Myo5a	APN	9	75,076,372 (GRCm39)	splice site	probably benign
IGL01945:Myo5a	APN	9	75,047,953 (GRCm39)	missense	probably damaging	1.00
IGL02127:Myo5a	APN	9	75,120,263 (GRCm39)	missense	probably benign	0.12
IGL02137:Myo5a	APN	9	75,068,817 (GRCm39)	splice site	probably null
IGL02183:Myo5a	APN	9	75,074,518 (GRCm39)	splice site	probably benign
IGL02427:Myo5a	APN	9	75,083,900 (GRCm39)	splice site	probably benign
IGL02490:Myo5a	APN	9	75,043,737 (GRCm39)	missense	probably damaging	1.00
IGL02574:Myo5a	APN	9	75,118,429 (GRCm39)	missense	probably benign	0.00
IGL02886:Myo5a	APN	9	75,059,169 (GRCm39)	splice site	probably benign
IGL02961:Myo5a	APN	9	75,122,402 (GRCm39)	missense	probably benign	0.04
IGL03090:Myo5a	APN	9	75,028,115 (GRCm39)	missense	probably damaging	1.00
IGL03119:Myo5a	APN	9	75,081,297 (GRCm39)	missense	probably benign	0.01
IGL03237:Myo5a	APN	9	75,037,276 (GRCm39)	missense	probably damaging	1.00
IGL03296:Myo5a	APN	9	75,023,484 (GRCm39)	missense	probably damaging	1.00
naoki	UTSW	9	75,068,774 (GRCm39)	missense	probably damaging	1.00
new_gray	UTSW	9	0 ()	missense
nut	UTSW	9	0 ()	splice donor site
silver_decerebrate	UTSW	9	75,071,477 (GRCm39)	missense	probably damaging	1.00
silver_decerebrate_2	UTSW	9	75,118,408 (GRCm39)	missense	probably damaging	1.00
IGL02988:Myo5a	UTSW	9	75,037,423 (GRCm39)	splice site	probably benign
IGL03050:Myo5a	UTSW	9	75,054,191 (GRCm39)	splice site	probably null
PIT4403001:Myo5a	UTSW	9	75,124,805 (GRCm39)	missense	probably damaging	1.00
R0047:Myo5a	UTSW	9	75,063,489 (GRCm39)	missense	probably damaging	1.00
R0047:Myo5a	UTSW	9	75,063,489 (GRCm39)	missense	probably damaging	1.00
R0091:Myo5a	UTSW	9	75,068,774 (GRCm39)	missense	probably damaging	1.00
R0142:Myo5a	UTSW	9	75,067,856 (GRCm39)	missense	probably benign	0.01
R0243:Myo5a	UTSW	9	75,093,405 (GRCm39)	critical splice donor site	probably null
R0395:Myo5a	UTSW	9	75,101,259 (GRCm39)	missense	probably benign	0.39
R0427:Myo5a	UTSW	9	75,081,478 (GRCm39)	missense	probably benign	0.00
R0545:Myo5a	UTSW	9	75,074,319 (GRCm39)	missense	possibly damaging	0.94
R0565:Myo5a	UTSW	9	75,087,394 (GRCm39)	missense	probably benign	0.00
R0601:Myo5a	UTSW	9	75,081,297 (GRCm39)	missense	probably benign	0.01
R1457:Myo5a	UTSW	9	75,120,347 (GRCm39)	missense	probably damaging	0.99
R1510:Myo5a	UTSW	9	75,078,833 (GRCm39)	missense	probably benign
R1548:Myo5a	UTSW	9	75,079,028 (GRCm39)	missense	probably damaging	1.00
R1759:Myo5a	UTSW	9	75,089,275 (GRCm39)	missense	possibly damaging	0.72
R1924:Myo5a	UTSW	9	75,023,489 (GRCm39)	missense	probably damaging	1.00
R1960:Myo5a	UTSW	9	75,055,139 (GRCm39)	missense	probably damaging	1.00
R2050:Myo5a	UTSW	9	75,054,156 (GRCm39)	missense	probably benign	0.01
R2070:Myo5a	UTSW	9	75,089,266 (GRCm39)	missense	probably benign	0.03
R2075:Myo5a	UTSW	9	75,097,200 (GRCm39)	missense	probably benign	0.01
R2148:Myo5a	UTSW	9	75,087,429 (GRCm39)	missense	probably damaging	1.00
R2201:Myo5a	UTSW	9	75,125,225 (GRCm39)	missense	possibly damaging	0.51
R2337:Myo5a	UTSW	9	75,111,083 (GRCm39)	missense	probably damaging	1.00
R2357:Myo5a	UTSW	9	75,108,647 (GRCm39)	missense	probably damaging	0.99
R2392:Myo5a	UTSW	9	75,116,521 (GRCm39)	missense	probably benign	0.02
R2432:Myo5a	UTSW	9	75,120,155 (GRCm39)	missense	possibly damaging	0.89
R2568:Myo5a	UTSW	9	75,059,179 (GRCm39)	missense	probably damaging	1.00
R2568:Myo5a	UTSW	9	75,030,322 (GRCm39)	missense	probably damaging	1.00
R2932:Myo5a	UTSW	9	75,103,418 (GRCm39)	missense	possibly damaging	0.85
R2971:Myo5a	UTSW	9	75,023,484 (GRCm39)	missense	probably damaging	1.00
R4231:Myo5a	UTSW	9	75,097,279 (GRCm39)	missense	possibly damaging	0.67
R4293:Myo5a	UTSW	9	75,051,453 (GRCm39)	missense	probably benign
R4321:Myo5a	UTSW	9	75,124,812 (GRCm39)	missense	probably damaging	0.99
R4450:Myo5a	UTSW	9	75,074,458 (GRCm39)	missense	probably benign	0.00
R4573:Myo5a	UTSW	9	75,108,579 (GRCm39)	splice site	probably null
R4577:Myo5a	UTSW	9	75,124,827 (GRCm39)	missense	probably damaging	1.00
R4601:Myo5a	UTSW	9	75,043,670 (GRCm39)	missense	probably damaging	1.00
R4690:Myo5a	UTSW	9	75,061,105 (GRCm39)	missense	probably damaging	0.99
R4691:Myo5a	UTSW	9	75,087,438 (GRCm39)	missense	probably damaging	0.99
R4764:Myo5a	UTSW	9	75,023,618 (GRCm39)	intron	probably benign
R4767:Myo5a	UTSW	9	75,051,358 (GRCm39)	missense	probably damaging	0.99
R4811:Myo5a	UTSW	9	75,048,825 (GRCm39)	critical splice donor site	probably null
R4829:Myo5a	UTSW	9	75,043,689 (GRCm39)	missense	probably damaging	1.00
R4863:Myo5a	UTSW	9	75,124,789 (GRCm39)	missense	probably damaging	1.00
R4902:Myo5a	UTSW	9	75,081,360 (GRCm39)	missense	probably benign
R4947:Myo5a	UTSW	9	75,030,330 (GRCm39)	missense	probably damaging	1.00
R5074:Myo5a	UTSW	9	75,081,438 (GRCm39)	missense	probably benign
R5095:Myo5a	UTSW	9	75,091,671 (GRCm39)	nonsense	probably null
R5095:Myo5a	UTSW	9	75,059,302 (GRCm39)	missense	probably damaging	1.00
R5254:Myo5a	UTSW	9	75,037,402 (GRCm39)	missense	probably damaging	1.00
R5267:Myo5a	UTSW	9	75,059,292 (GRCm39)	missense	probably damaging	1.00
R5419:Myo5a	UTSW	9	75,055,179 (GRCm39)	missense	probably damaging	1.00
R5629:Myo5a	UTSW	9	75,111,127 (GRCm39)	missense	possibly damaging	0.89
R5649:Myo5a	UTSW	9	75,079,001 (GRCm39)	missense	possibly damaging	0.92
R5661:Myo5a	UTSW	9	75,074,488 (GRCm39)	missense	probably benign	0.02
R5665:Myo5a	UTSW	9	75,051,463 (GRCm39)	critical splice donor site	probably null
R5719:Myo5a	UTSW	9	75,059,213 (GRCm39)	missense	probably damaging	1.00
R5964:Myo5a	UTSW	9	75,111,115 (GRCm39)	missense	probably benign	0.09
R6014:Myo5a	UTSW	9	75,074,489 (GRCm39)	nonsense	probably null
R6344:Myo5a	UTSW	9	75,067,791 (GRCm39)	missense	probably benign	0.09
R6345:Myo5a	UTSW	9	75,097,195 (GRCm39)	missense	possibly damaging	0.77
R6644:Myo5a	UTSW	9	75,054,249 (GRCm39)	missense	probably damaging	0.98
R6712:Myo5a	UTSW	9	75,120,182 (GRCm39)	missense	probably benign	0.12
R6838:Myo5a	UTSW	9	75,061,165 (GRCm39)	critical splice donor site	probably null
R6866:Myo5a	UTSW	9	75,047,970 (GRCm39)	missense	probably damaging	1.00
R6876:Myo5a	UTSW	9	75,067,772 (GRCm39)	missense	probably benign	0.04
R7108:Myo5a	UTSW	9	75,037,274 (GRCm39)	missense	probably damaging	1.00
R7159:Myo5a	UTSW	9	75,078,845 (GRCm39)	missense	probably benign	0.07
R7164:Myo5a	UTSW	9	75,087,435 (GRCm39)	missense	probably benign	0.00
R7219:Myo5a	UTSW	9	75,028,052 (GRCm39)	missense	probably damaging	1.00
R7497:Myo5a	UTSW	9	75,104,983 (GRCm39)	missense
R7620:Myo5a	UTSW	9	75,071,418 (GRCm39)	missense	probably benign	0.41
R7719:Myo5a	UTSW	9	75,051,366 (GRCm39)	missense	probably benign	0.01
R7810:Myo5a	UTSW	9	75,076,292 (GRCm39)	missense	probably benign
R7810:Myo5a	UTSW	9	75,067,747 (GRCm39)	missense	probably benign	0.09
R7866:Myo5a	UTSW	9	75,111,034 (GRCm39)	missense	probably damaging	1.00
R7939:Myo5a	UTSW	9	75,097,182 (GRCm39)	missense
R8050:Myo5a	UTSW	9	75,089,228 (GRCm39)	missense	probably damaging	0.99
R8061:Myo5a	UTSW	9	75,030,239 (GRCm39)	nonsense	probably null
R8326:Myo5a	UTSW	9	75,125,271 (GRCm39)	missense	probably damaging	0.98
R8529:Myo5a	UTSW	9	75,120,154 (GRCm39)	missense	probably benign	0.02
R8824:Myo5a	UTSW	9	75,074,328 (GRCm39)	missense	probably damaging	1.00
R8858:Myo5a	UTSW	9	75,091,965 (GRCm39)	missense	probably damaging	0.99
R9040:Myo5a	UTSW	9	75,081,341 (GRCm39)	missense	probably benign	0.07
R9092:Myo5a	UTSW	9	75,054,414 (GRCm39)	critical splice donor site	probably null
R9249:Myo5a	UTSW	9	75,097,279 (GRCm39)	missense	possibly damaging	0.67
R9274:Myo5a	UTSW	9	75,097,279 (GRCm39)	missense	possibly damaging	0.67
R9293:Myo5a	UTSW	9	75,087,312 (GRCm39)	missense	probably benign	0.37
R9366:Myo5a	UTSW	9	75,124,800 (GRCm39)	missense	probably damaging	0.98
R9410:Myo5a	UTSW	9	75,023,496 (GRCm39)	missense	probably damaging	0.98
R9644:Myo5a	UTSW	9	75,043,631 (GRCm39)	missense	probably damaging	1.00
R9649:Myo5a	UTSW	9	75,099,726 (GRCm39)	missense
R9748:Myo5a	UTSW	9	75,091,965 (GRCm39)	missense	probably damaging	0.99
R9766:Myo5a	UTSW	9	75,078,914 (GRCm39)	missense	probably damaging	0.99
X0010:Myo5a	UTSW	9	75,093,187 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo5a	UTSW	9	75,093,318 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GTCACTCACGTGTTGTACCG -3'
(R):5'- TCCCTGAAAGGACTTTAAAGGAAGC -3'

Sequencing Primer
(F):5'- TCACGTGTTGTACCGGGTCAC -3'
(R):5'- GGACTTTAAAGGAAGCAAGTGC -3'

Posted On

2016-11-08