Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Myo5a'

20217

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

74978297-75130970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75068774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 659 (R659C)

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: R659C

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

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: R659C

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: R659C

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

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: R659C

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: R659C

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

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: R659C

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

0.9746

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		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
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
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'- AATGGTGGTCCCTTCAGCCTGTTC -3'
(R):5'- AAGCCTTTAGTCCAAGAAGCTCTGC -3'

Posted On

2013-04-11