Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Myo5a'

366222

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74978297-75130970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75051358 bp (GRCm39)

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

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

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

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: I317T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: I317T

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

0.8705

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,859,954 (GRCm39)	S318P	probably benign	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Or9q2	A	T	19: 13,772,409 (GRCm39)	C189S	probably damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,151,547 (GRCm39)		probably null	Het
Sox14	A	T	9: 99,757,686 (GRCm39)	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Thnsl2	A	T	6: 71,111,279 (GRCm39)	D196E	probably damaging	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly damaging	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
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
R5514:Myo5a	UTSW	9	75,061,048 (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'- CCCACATTGCTAAACTGCCTAG -3'
(R):5'- TGCCTAGCATGTGCAGAGAC -3'

Sequencing Primer
(F):5'- GCTAAACTGCCTAGTATGTTACTGTC -3'
(R):5'- TAGCATGTGCAGAGACCCCTAG -3'

Posted On

2015-12-21