Mutagenetix > Incidental Mutations

Incidental Mutation 'R0243:Myo5a'

37874

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

038481-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0243 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

75071015-75223688 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 75186123 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117493 (fasta)

Gene Model

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

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000130384

SMART Domains

Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593

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

Predicted Effect

probably null
Transcript: ENSMUST00000130384

SMART Domains

Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593

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

Predicted Effect

probably null
Transcript: ENSMUST00000130384

SMART Domains

Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593

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

Predicted Effect

probably null
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 null
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

probably null
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

probably null
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

probably null
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 null
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

probably null
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

probably null
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

probably null
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 null
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

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958		probably null	Het
Adat2	A	G	10: 13,553,293	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513		probably benign	Het
Arhgef4	T	A	1: 34,806,999		probably null	Het
Asic1	C	T	15: 99,698,617		probably benign	Het
Atp8b5	A	G	4: 43,366,057	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573		probably benign	Het
Cc2d2a	T	C	5: 43,696,638		probably benign	Het
Ccdc134	G	T	15: 82,140,946	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724		probably benign	Het
Cntn5	T	A	9: 9,781,775	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995		probably benign	Het
Col11a2	G	T	17: 34,062,546		probably benign	Het
Cyp4f13	G	A	17: 32,924,969		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088		probably benign	Het
Elac1	A	G	18: 73,742,363	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547		probably benign	Het
Ep400	A	C	5: 110,724,407		probably benign	Het
F10	A	T	8: 13,048,196	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494	L89*	probably null	Het
Gab2	T	G	7: 97,299,241	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668		probably benign	Het
Heatr9	C	T	11: 83,513,338	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137		probably benign	Het
Krt90	C	T	15: 101,562,675	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746	C2622G	possibly damaging	Het
Myoz3	T	C	18: 60,578,951	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057		probably benign	Het
Olfr1261	T	A	2: 89,993,806	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716		probably benign	Het
Parm1	A	T	5: 91,594,294	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418		probably null	Het
Pclo	A	T	5: 14,775,420	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737		probably null	Het
Pi4ka	C	T	16: 17,297,635	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038		probably null	Het
Primpol	T	C	8: 46,599,814	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932		probably benign	Het
Rnasek	G	T	11: 70,238,440	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681		probably benign	Het
Sectm1b	T	A	11: 121,055,785	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022		probably null	Het
Slc22a30	A	T	19: 8,345,357	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104		probably benign	Het
Snx1	G	A	9: 66,101,326		probably benign	Het
Spag17	A	G	3: 100,085,368	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109		probably null	Het
Sra1	A	T	18: 36,675,706	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516		probably benign	Het
Tctex1d2	A	G	16: 32,426,887	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489		probably benign	Het
Tnc	G	T	4: 63,970,420	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178		probably benign	Het
Ubr3	T	G	2: 69,951,405	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902		probably null	Het
Zfp108	T	C	7: 24,261,783	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728		probably null	Het
Zfp395	T	C	14: 65,386,480	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446	E1690Q	probably damaging	Het

Other mutations in Myo5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Myo5a	APN	9	75161497	nonsense	probably null
IGL00547:Myo5a	APN	9	75141453	missense	probably benign	0.00
IGL00788:Myo5a	APN	9	75168959	missense	probably benign	0.15
IGL01327:Myo5a	APN	9	75187538	splice site	probably benign
IGL01687:Myo5a	APN	9	75156249	missense	probably benign	0.12
IGL01886:Myo5a	APN	9	75169090	splice site	probably benign
IGL01945:Myo5a	APN	9	75140671	missense	probably damaging	1.00
IGL02127:Myo5a	APN	9	75212981	missense	probably benign	0.12
IGL02137:Myo5a	APN	9	75161535	splice site	probably null
IGL02183:Myo5a	APN	9	75167236	splice site	probably benign
IGL02427:Myo5a	APN	9	75176618	splice site	probably benign
IGL02490:Myo5a	APN	9	75136455	missense	probably damaging	1.00
IGL02574:Myo5a	APN	9	75211147	missense	probably benign	0.00
IGL02886:Myo5a	APN	9	75151887	splice site	probably benign
IGL02961:Myo5a	APN	9	75215120	missense	probably benign	0.04
IGL03090:Myo5a	APN	9	75120833	missense	probably damaging	1.00
IGL03119:Myo5a	APN	9	75174015	missense	probably benign	0.01
IGL03237:Myo5a	APN	9	75129994	missense	probably damaging	1.00
IGL03296:Myo5a	APN	9	75116202	missense	probably damaging	1.00
naoki	UTSW	9	75161492	missense	probably damaging	1.00
new_gray	UTSW	9		missense
nut	UTSW	9		splice donor site
silver_decerebrate	UTSW	9	75164195	missense	probably damaging	1.00
silver_decerebrate_2	UTSW	9	75211127	missense	probably damaging	1.00
IGL02988:Myo5a	UTSW	9	75130141	splice site	probably benign
IGL03050:Myo5a	UTSW	9	75146909	splice site	probably null
PIT4403001:Myo5a	UTSW	9	75217523	missense	probably damaging	1.00
R0047:Myo5a	UTSW	9	75156207	missense	probably damaging	1.00
R0047:Myo5a	UTSW	9	75156207	missense	probably damaging	1.00
R0091:Myo5a	UTSW	9	75161492	missense	probably damaging	1.00
R0142:Myo5a	UTSW	9	75160574	missense	probably benign	0.01
R0395:Myo5a	UTSW	9	75193977	missense	probably benign	0.39
R0427:Myo5a	UTSW	9	75174196	missense	probably benign	0.00
R0545:Myo5a	UTSW	9	75167037	missense	possibly damaging	0.94
R0565:Myo5a	UTSW	9	75180112	missense	probably benign	0.00
R0601:Myo5a	UTSW	9	75174015	missense	probably benign	0.01
R1457:Myo5a	UTSW	9	75213065	missense	probably damaging	0.99
R1510:Myo5a	UTSW	9	75171551	missense	probably benign
R1548:Myo5a	UTSW	9	75171746	missense	probably damaging	1.00
R1759:Myo5a	UTSW	9	75181993	missense	possibly damaging	0.72
R1924:Myo5a	UTSW	9	75116207	missense	probably damaging	1.00
R1960:Myo5a	UTSW	9	75147857	missense	probably damaging	1.00
R2050:Myo5a	UTSW	9	75146874	missense	probably benign	0.01
R2070:Myo5a	UTSW	9	75181984	missense	probably benign	0.03
R2075:Myo5a	UTSW	9	75189918	missense	probably benign	0.01
R2148:Myo5a	UTSW	9	75180147	missense	probably damaging	1.00
R2201:Myo5a	UTSW	9	75217943	missense	possibly damaging	0.51
R2337:Myo5a	UTSW	9	75203801	missense	probably damaging	1.00
R2357:Myo5a	UTSW	9	75201365	missense	probably damaging	0.99
R2392:Myo5a	UTSW	9	75209239	missense	probably benign	0.02
R2432:Myo5a	UTSW	9	75212873	missense	possibly damaging	0.89
R2568:Myo5a	UTSW	9	75123040	missense	probably damaging	1.00
R2568:Myo5a	UTSW	9	75151897	missense	probably damaging	1.00
R2932:Myo5a	UTSW	9	75196136	missense	possibly damaging	0.85
R2971:Myo5a	UTSW	9	75116202	missense	probably damaging	1.00
R4231:Myo5a	UTSW	9	75189997	missense	possibly damaging	0.67
R4293:Myo5a	UTSW	9	75144171	missense	probably benign
R4321:Myo5a	UTSW	9	75217530	missense	probably damaging	0.99
R4450:Myo5a	UTSW	9	75167176	missense	probably benign	0.00
R4573:Myo5a	UTSW	9	75201297	splice site	probably null
R4577:Myo5a	UTSW	9	75217545	missense	probably damaging	1.00
R4601:Myo5a	UTSW	9	75136388	missense	probably damaging	1.00
R4690:Myo5a	UTSW	9	75153823	missense	probably damaging	0.99
R4691:Myo5a	UTSW	9	75180156	missense	probably damaging	0.99
R4764:Myo5a	UTSW	9	75116336	intron	probably benign
R4767:Myo5a	UTSW	9	75144076	missense	probably damaging	0.99
R4811:Myo5a	UTSW	9	75141543	critical splice donor site	probably null
R4829:Myo5a	UTSW	9	75136407	missense	probably damaging	1.00
R4863:Myo5a	UTSW	9	75217507	missense	probably damaging	1.00
R4902:Myo5a	UTSW	9	75174078	missense	probably benign
R4947:Myo5a	UTSW	9	75123048	missense	probably damaging	1.00
R5074:Myo5a	UTSW	9	75174156	missense	probably benign
R5095:Myo5a	UTSW	9	75152020	missense	probably damaging	1.00
R5095:Myo5a	UTSW	9	75184389	nonsense	probably null
R5254:Myo5a	UTSW	9	75130120	missense	probably damaging	1.00
R5267:Myo5a	UTSW	9	75152010	missense	probably damaging	1.00
R5419:Myo5a	UTSW	9	75147897	missense	probably damaging	1.00
R5514:Myo5a	UTSW	9	75153766	missense	probably damaging	1.00
R5629:Myo5a	UTSW	9	75203845	missense	possibly damaging	0.89
R5649:Myo5a	UTSW	9	75171719	missense	possibly damaging	0.92
R5661:Myo5a	UTSW	9	75167206	missense	probably benign	0.02
R5665:Myo5a	UTSW	9	75144181	critical splice donor site	probably null
R5719:Myo5a	UTSW	9	75151931	missense	probably damaging	1.00
R5964:Myo5a	UTSW	9	75203833	missense	probably benign	0.09
R6014:Myo5a	UTSW	9	75167207	nonsense	probably null
R6344:Myo5a	UTSW	9	75160509	missense	probably benign	0.09
R6345:Myo5a	UTSW	9	75189913	missense	possibly damaging	0.77
R6644:Myo5a	UTSW	9	75146967	missense	probably damaging	0.98
R6712:Myo5a	UTSW	9	75212900	missense	probably benign	0.12
R6838:Myo5a	UTSW	9	75153883	critical splice donor site	probably null
R6866:Myo5a	UTSW	9	75140688	missense	probably damaging	1.00
R6876:Myo5a	UTSW	9	75160490	missense	probably benign	0.04
R7108:Myo5a	UTSW	9	75129992	missense	probably damaging	1.00
R7159:Myo5a	UTSW	9	75171563	missense	probably benign	0.07
R7164:Myo5a	UTSW	9	75180153	missense	probably benign	0.00
R7219:Myo5a	UTSW	9	75120770	missense	probably damaging	1.00
R7497:Myo5a	UTSW	9	75197701	missense
R7620:Myo5a	UTSW	9	75164136	missense	probably benign	0.41
R7719:Myo5a	UTSW	9	75144084	missense	probably benign	0.01
R7810:Myo5a	UTSW	9	75160465	missense	probably benign	0.09
R7810:Myo5a	UTSW	9	75169010	missense	probably benign
R7866:Myo5a	UTSW	9	75203752	missense	probably damaging	1.00
R7939:Myo5a	UTSW	9	75189900	missense
R8050:Myo5a	UTSW	9	75181946	missense	probably damaging	0.99
R8061:Myo5a	UTSW	9	75122957	nonsense	probably null
R8326:Myo5a	UTSW	9	75217989	missense	probably damaging	0.98
R8529:Myo5a	UTSW	9	75212872	missense	probably benign	0.02
X0010:Myo5a	UTSW	9	75185905	missense	probably damaging	1.00
Z1177:Myo5a	UTSW	9	75186036	missense

Predicted Primers

PCR Primer
(F):5'- AAGCCCTCAGTGAGAAAAGTGCC -3'
(R):5'- TGCCTTCTCCCTACTGACAGGAAC -3'

Sequencing Primer
(F):5'- AGTGCCCCAGAAGTGACTG -3'
(R):5'- TGTCCACTTAAGCAGGCCC -3'

Posted On

2013-05-23