Mutagenetix > Incidental Mutation

Incidental Mutation 'R9410:Myo5a'

711755

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74978297-75130970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75023496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 19 (E19G)

Ref Sequence

ENSEMBL: ENSMUSP00000117493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123128] [ENSMUST00000123531] [ENSMUST00000136731] [ENSMUST00000155282]

AlphaFold

Q99104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123128
AA Change: E19G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: E19G

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 damaging
Transcript: ENSMUST00000123531
AA Change: E19G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136731
AA Change: E19G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: E19G

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: E19G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: E19G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,869,703 (GRCm39)	S772L	probably benign	Het
Ampd2	A	T	3: 107,982,590 (GRCm39)	V722E	probably damaging	Het
Appbp2	A	T	11: 85,106,067 (GRCm39)	F83Y	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
B020004C17Rik	A	T	14: 57,254,273 (GRCm39)	Y132F	possibly damaging	Het
Cnr1	A	G	4: 33,944,973 (GRCm39)	T454A	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctla4	A	T	1: 60,951,911 (GRCm39)	T147S	probably damaging	Het
Ctsa	T	C	2: 164,677,101 (GRCm39)	L152P	probably damaging	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dsg1a	A	T	18: 20,464,590 (GRCm39)	I362F	possibly damaging	Het
Dzank1	C	T	2: 144,324,050 (GRCm39)		probably null	Het
Ephb2	A	T	4: 136,386,948 (GRCm39)	C760S	probably null	Het
Exoc1	T	A	5: 76,706,989 (GRCm39)	V512E	probably benign	Het
Faiml	C	A	9: 99,111,587 (GRCm39)	K157N	probably benign	Het
Fpr2	C	T	17: 18,113,604 (GRCm39)	T200I	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Hcrtr1	A	T	4: 130,029,514 (GRCm39)	L189Q	probably damaging	Het
Igkv4-62	T	C	6: 69,376,832 (GRCm39)	T84A	probably benign	Het
Krtap2-4	C	A	11: 99,505,437 (GRCm39)	R58L	possibly damaging	Het
Meis1	C	T	11: 18,833,987 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,915,747 (GRCm39)	I422F	probably damaging	Het
Mre11a	G	A	9: 14,716,716 (GRCm39)	V304M	probably damaging	Het
Ndufa10	A	T	1: 92,367,614 (GRCm39)	Y339N	probably damaging	Het
Odad1	T	C	7: 45,597,821 (GRCm39)	V577A	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,615 (GRCm39)	P949L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plin4	A	G	17: 56,413,995 (GRCm39)	V210A	probably benign	Het
Rnf150	T	C	8: 83,762,722 (GRCm39)	M319T	possibly damaging	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Ruvbl2	G	A	7: 45,071,618 (GRCm39)	Q422*	probably null	Het
Shroom1	C	T	11: 53,354,217 (GRCm39)	R46C	probably damaging	Het
Slc22a2	T	C	17: 12,805,732 (GRCm39)	F161S	probably damaging	Het
Src	T	A	2: 157,311,676 (GRCm39)	M468K	probably damaging	Het
Stag3	T	C	5: 138,297,601 (GRCm39)	F606L	possibly damaging	Het
Stau1	T	C	2: 166,797,038 (GRCm39)	T120A	probably benign	Het
Sulf2	A	C	2: 165,936,444 (GRCm39)	L174R		Het
Sumf1	A	C	6: 108,150,363 (GRCm39)	F156C	probably damaging	Het
Tenm2	T	A	11: 36,032,396 (GRCm39)	D708V	probably damaging	Het
Tmprss12	A	C	15: 100,190,622 (GRCm39)	I331L	possibly damaging	Het
Tnfrsf10b	T	G	14: 70,010,849 (GRCm39)	C85G	probably damaging	Het
Trav10d	C	A	14: 53,048,845 (GRCm39)	Q79K	probably benign	Het
Vmn1r236	T	A	17: 21,507,756 (GRCm39)	Y291*	probably null	Het
Vmn2r115	T	C	17: 23,578,915 (GRCm39)	I796T	possibly damaging	Het
Zfp189	T	A	4: 49,529,942 (GRCm39)	H348Q	possibly damaging	Het
Zfp563	T	A	17: 33,321,320 (GRCm39)	L40Q	probably 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
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
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'- GTACTGGGGCTAACCTACTTTTC -3'
(R):5'- AATTGGGGTTAGGCAAGTTATAGC -3'

Sequencing Primer
(F):5'- CCCTGGACTATGCAATAAGATGCTG -3'
(R):5'- GGGTTAGGCAAGTTATAGCAAAATTC -3'

Posted On

2022-05-16