Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Myo5a'

701440

Institutional Source

Beutler Lab

Gene Symbol

Myo5a

Ensembl Gene

ENSMUSG00000034593

Gene Name

myosin VA

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75071015-75223688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75189997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1319 (N1319S)

Ref Sequence

ENSEMBL: ENSMUSP00000120444 (fasta)

Gene Model

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

AlphaFold

Q99104

Predicted Effect

probably benign
Transcript: ENSMUST00000123128
AA Change: N1319S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116028
Gene: ENSMUSG00000034593
AA Change: N1319S

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
AA Change: N109S

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118881
Gene: ENSMUSG00000034593
AA Change: N109S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114803
Gene: ENSMUSG00000034593
AA Change: N75S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136604

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136731
AA Change: N1319S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120444
Gene: ENSMUSG00000034593
AA Change: N1319S

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
AA Change: N76S

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121158
Gene: ENSMUSG00000034593
AA Change: N76S

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

noncoding transcript
Transcript: ENSMUST00000153404

Predicted Effect

probably benign
Transcript: ENSMUST00000155282
AA Change: N1319S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117493
Gene: ENSMUSG00000034593
AA Change: N1319S

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

0.0706

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,329,339 (GRCm38)		probably benign	Het
AI314180	T	C	4: 58,869,427 (GRCm38)	K280R	probably damaging	Het
Arfgef2	T	C	2: 166,891,770 (GRCm38)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,843,014 (GRCm38)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,613,327 (GRCm38)	Y1564C		Het
Ccdc182	T	C	11: 88,294,352 (GRCm38)	V86A	probably benign	Het
Cd44	T	G	2: 102,831,402 (GRCm38)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,563,984 (GRCm38)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,589,237 (GRCm38)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,489,761 (GRCm38)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,779,298 (GRCm38)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,419,530 (GRCm38)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,991,546 (GRCm38)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,486,157 (GRCm38)		probably benign	Het
Egfl8	C	A	17: 34,614,517 (GRCm38)	A133S	probably benign	Het
Fasn	T	C	11: 120,813,089 (GRCm38)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,458,782 (GRCm38)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,131,333 (GRCm38)	M35L	probably damaging	Het
Herc2	T	A	7: 56,113,142 (GRCm38)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,806,363 (GRCm38)	K207E	probably benign	Het
Ikbkb	T	A	8: 22,681,719 (GRCm38)	K171*	probably null	Het
Il21	T	A	3: 37,225,528 (GRCm38)		probably null	Het
Itga1	T	C	13: 115,049,298 (GRCm38)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 121,596,094 (GRCm38)		probably null	Het
Mapk13	A	G	17: 28,769,516 (GRCm38)	Y36C	probably damaging	Het
Myh3	C	T	11: 67,085,029 (GRCm38)	P296S	probably benign	Het
Myot	T	C	18: 44,346,198 (GRCm38)	V334A	probably benign	Het
Ncor2	T	C	5: 125,109,924 (GRCm38)	E12G	unknown	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337 (GRCm38)	R255P	probably benign	Het
Nphs2	G	A	1: 156,316,846 (GRCm38)	R140Q	probably damaging	Het
Nup98	C	A	7: 102,138,830 (GRCm38)	R1011L	probably benign	Het
Nvl	A	G	1: 181,135,028 (GRCm38)	Y126H	probably damaging	Het
Olfr1134	A	T	2: 87,656,316 (GRCm38)	F202I	probably benign	Het
Olfr342	T	C	2: 36,527,547 (GRCm38)	I45T	probably damaging	Het
Olfr947-ps1	T	A	9: 39,289,306 (GRCm38)	N195Y	unknown	Het
Olfr957	A	T	9: 39,510,853 (GRCm38)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,286,151 (GRCm38)	D651E	probably benign	Het
Papola	T	A	12: 105,833,144 (GRCm38)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,799,543 (GRCm38)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,019,420 (GRCm38)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Polb	A	T	8: 22,653,068 (GRCm38)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,913,568 (GRCm38)	V1105A	probably damaging	Het
Ric3	C	T	7: 109,048,005 (GRCm38)	D204N	probably damaging	Het
Scn8a	A	G	15: 101,016,575 (GRCm38)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,143,795 (GRCm38)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,385,224 (GRCm38)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695 (GRCm38)		probably benign	Het
Serpina3i	C	T	12: 104,265,469 (GRCm38)	Q122*	probably null	Het
Sgo2b	A	C	8: 63,938,373 (GRCm38)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,280,335 (GRCm38)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 61,974,527 (GRCm38)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,936,962 (GRCm38)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,678,876 (GRCm38)		probably benign	Het
Slc8a2	T	C	7: 16,157,231 (GRCm38)	F732S	probably damaging	Het
Spata16	T	C	3: 26,732,881 (GRCm38)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,632,045 (GRCm38)	D2G	probably damaging	Het
Stk25	T	C	1: 93,625,084 (GRCm38)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,678,675 (GRCm38)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,446,225 (GRCm38)	F274L	probably benign	Het
Tssk1	A	T	16: 17,894,860 (GRCm38)	I170L	probably benign	Het
Vmn1r6	A	G	6: 57,002,775 (GRCm38)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,848,493 (GRCm38)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,257,154 (GRCm38)	H407L	probably 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
IGL01327:Myo5a	APN	9	75,187,538 (GRCm38)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAACCTTTTGGGGATGCTAAATTTG -3'
(R):5'- TTTCCCCTGACACCAAGTG -3'

Sequencing Primer
(F):5'- AGATTGAACTCTGGTCATCAGGC -3'
(R):5'- ACACCAAGTGTCACTATTTACCTG -3'

Posted On

2022-03-25