Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Myo5a'

74347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

75071015-75223688 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 75187538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123128] [ENSMUST00000129281] [ENSMUST00000136731] [ENSMUST00000148144] [ENSMUST00000155282]

AlphaFold

Q99104

Predicted Effect

probably benign
Transcript: ENSMUST00000123128

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593

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: ENSMUST00000129281

SMART Domains

Protein: ENSMUSP00000118881
Gene: ENSMUSG00000034593

Domain	Start	End	E-Value	Type
coiled coil region	1	27	N/A	INTRINSIC
coiled coil region	129	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130384

SMART Domains

Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593

Domain	Start	End	E-Value	Type
coiled coil region	95	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136604

Predicted Effect

probably benign
Transcript: ENSMUST00000136731

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593

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: ENSMUST00000143355

Predicted Effect

probably benign
Transcript: ENSMUST00000148144

SMART Domains

Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593

Domain	Start	End	E-Value	Type
coiled coil region	71	175	N/A	INTRINSIC
Blast:DIL	275	305	4e-13	BLAST
Blast:DIL	330	355	5e-6	BLAST
DIL	417	522	2.47e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149032

Predicted Effect

probably benign
Transcript: ENSMUST00000155282

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064 (GRCm38)	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773 (GRCm38)	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790 (GRCm38)		probably benign	Het
Aldh1a2	T	A	9: 71,285,966 (GRCm38)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549 (GRCm38)	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361 (GRCm38)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554 (GRCm38)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606 (GRCm38)		probably null	Het
Atp4a	T	A	7: 30,713,250 (GRCm38)	I127N	possibly damaging	Het
AY358078	T	A	14: 51,805,709 (GRCm38)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm38)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208 (GRCm38)	Q739*	probably null	Het
C8g	A	G	2: 25,499,077 (GRCm38)	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955 (GRCm38)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979 (GRCm38)	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357 (GRCm38)	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675 (GRCm38)		probably benign	Het
Cyth1	A	G	11: 118,193,613 (GRCm38)		probably null	Het
Dync1h1	A	T	12: 110,616,692 (GRCm38)		probably benign	Het
Ezh1	C	T	11: 101,203,436 (GRCm38)	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701 (GRCm38)	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665 (GRCm38)	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633 (GRCm38)	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144 (GRCm38)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774 (GRCm38)	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972 (GRCm38)	M272L	probably benign	Het
Kif19a	C	T	11: 114,781,799 (GRCm38)		probably benign	Het
Lcn2	T	G	2: 32,386,018 (GRCm38)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,812,265 (GRCm38)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,565,099 (GRCm38)		probably benign	Het
Macf1	T	C	4: 123,509,912 (GRCm38)	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844 (GRCm38)	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632 (GRCm38)		probably null	Het
Nipa1	T	C	7: 55,979,661 (GRCm38)	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622 (GRCm38)	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207 (GRCm38)	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912 (GRCm38)	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975 (GRCm38)	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644 (GRCm38)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586 (GRCm38)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543 (GRCm38)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251 (GRCm38)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558 (GRCm38)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,527,193 (GRCm38)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,629,405 (GRCm38)	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571 (GRCm38)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750 (GRCm38)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112 (GRCm38)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702 (GRCm38)	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461 (GRCm38)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479 (GRCm38)	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073 (GRCm38)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712 (GRCm38)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634 (GRCm38)	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961 (GRCm38)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696 (GRCm38)	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680 (GRCm38)	V283E	possibly damaging	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
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
R5095:Myo5a	UTSW	9	75,152,020 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2013-10-07