Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Myo5a'

280920

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

74978297-75130970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75120263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1687 (V1687A)

Ref Sequence

ENSEMBL: ENSMUSP00000116028 (fasta)

Gene Model

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

AlphaFold

Q99104

PDB Structure

Structure of apo-calmodulin bound to unconventional myosin V [X-RAY DIFFRACTION]
Crystal Structure of MyoVa-GTD [X-RAY DIFFRACTION]
Crystal Structure of MyoVa-GTD in Complex with Two Cargos [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000123128
AA Change: V1687A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: V1687A

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

noncoding transcript
Transcript: ENSMUST00000136604

Predicted Effect

probably benign
Transcript: ENSMUST00000136731
AA Change: V1662A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: V1662A

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 benign
Transcript: ENSMUST00000148144
AA Change: V419A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593
AA Change: V419A

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

probably benign
Transcript: ENSMUST00000155282
AA Change: V1689A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: V1689A

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,946,878 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kcnu1	T	C	8: 26,382,090 (GRCm39)	L480P	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5c	G	T	9: 75,208,184 (GRCm39)	W1639C	probably damaging	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Or4a76	A	G	2: 89,461,098 (GRCm39)	I48T	probably damaging	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	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
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
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

Posted On

2015-04-16