Mutagenetix > Incidental Mutations

Incidental Mutation 'R3034:Myo5c'

264786

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

040550-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75286577 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1205 (T1205A)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036555] [ENSMUST00000216788]

Predicted Effect

probably benign
Transcript: ENSMUST00000036555
AA Change: T1205A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: T1205A

Domain	Start	End	E-Value	Type
MYSc	61	754	N/A	SMART
IQ	755	777	1.11e-3	SMART
IQ	778	800	1.39e0	SMART
IQ	806	828	8.98e-4	SMART
IQ	829	851	4.19e-4	SMART
IQ	854	876	2.54e-3	SMART
coiled coil region	1160	1185	N/A	INTRINSIC
coiled coil region	1207	1245	N/A	INTRINSIC
DIL	1574	1679	5.54e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215620

Predicted Effect

probably benign
Transcript: ENSMUST00000216788

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	T	C	11: 70,316,253	I576V	probably benign	Het
Apol7a	T	G	15: 77,389,723	I180L	probably benign	Het
Aptx	T	C	4: 40,694,994	N114S	probably benign	Het
Cd40	T	A	2: 165,062,315	S65R	probably benign	Het
Cdh23	C	T	10: 60,409,010		probably benign	Het
Coro7	G	A	16: 4,632,291	R565W	probably damaging	Het
Cpt1a	C	T	19: 3,378,390	T588M	probably damaging	Het
Defb23	A	G	2: 152,459,269	S128P	possibly damaging	Het
Dgki	G	A	6: 37,087,670	H250Y	probably damaging	Het
Fgr	T	C	4: 132,998,496		probably null	Het
Fkbp15	T	C	4: 62,306,892		probably null	Het
Gpr137c	C	T	14: 45,220,276	S95L	probably damaging	Het
Kirrel	T	C	3: 87,083,439	D692G	possibly damaging	Het
Krt1	C	A	15: 101,850,633	R32L	unknown	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mbl1	C	A	14: 41,158,833	S226Y	probably damaging	Het
Mrps28	T	A	3: 8,923,615	D61V	probably benign	Het
Mthfd1	A	G	12: 76,289,470	K299E	probably benign	Het
Myo1b	A	G	1: 51,773,247	Y738H	possibly damaging	Het
Nfatc2	C	T	2: 168,535,020	G317S	probably damaging	Het
Nln	C	T	13: 104,037,439	V525I	possibly damaging	Het
Nrap	T	C	19: 56,364,005	E549G	probably damaging	Het
Nwd2	T	A	5: 63,800,103	Y259N	probably damaging	Het
Oas3	T	C	5: 120,771,056	D275G	probably damaging	Het
Olfr294	A	T	7: 86,615,762	D294E	possibly damaging	Het
Ovch2	A	G	7: 107,785,492	S473P	probably damaging	Het
Pde8b	T	A	13: 95,222,767	Y16F	probably damaging	Het
Pmfbp1	A	T	8: 109,520,921		probably null	Het
Pmvk	T	C	3: 89,468,517	V74A	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,153,445	T202S	unknown	Het
Rheb	C	T	5: 24,803,723	E166K	probably damaging	Het
Rnf5	A	G	17: 34,603,358	V39A	possibly damaging	Het
Scn7a	T	C	2: 66,682,808	Y1168C	probably damaging	Het
Tas2r114	A	G	6: 131,689,648	I139T	probably benign	Het
Tma7	T	C	9: 109,082,206		probably benign	Het
Tmem181a	T	A	17: 6,280,626	S13T	possibly damaging	Het
Tmem62	C	T	2: 120,979,124		probably benign	Het
Trim71	T	C	9: 114,512,844	D790G	probably damaging	Het
Trp53tg5	T	C	2: 164,471,299	K152R	probably benign	Het
Uhrf1bp1	T	A	17: 27,894,746	D1297E	probably damaging	Het
Zdbf2	C	A	1: 63,304,205	A581E	probably damaging	Het

Other mutations in Myo5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Myo5c	APN	9	75242880	splice site	probably benign
IGL00848:Myo5c	APN	9	75289181	missense	probably benign
IGL01503:Myo5c	APN	9	75263042	missense	probably damaging	1.00
IGL01735:Myo5c	APN	9	75301438	missense	probably damaging	1.00
IGL01866:Myo5c	APN	9	75269582	missense	probably benign	0.00
IGL01956:Myo5c	APN	9	75242876	splice site	probably null
IGL02127:Myo5c	APN	9	75300902	missense	probably damaging	1.00
IGL02268:Myo5c	APN	9	75246237	missense	probably damaging	1.00
IGL02272:Myo5c	APN	9	75266160	missense	possibly damaging	0.73
IGL03052:Myo5c	APN	9	75252516	splice site	probably benign
IGL03179:Myo5c	APN	9	75255866	missense	possibly damaging	0.65
IGL03224:Myo5c	APN	9	75278243	missense	probably benign	0.01
PIT4142001:Myo5c	UTSW	9	75283948	missense	probably benign	0.00
PIT4431001:Myo5c	UTSW	9	75252571	missense	possibly damaging	0.75
R0126:Myo5c	UTSW	9	75269525	missense	probably benign	0.05
R0266:Myo5c	UTSW	9	75284216	splice site	probably benign
R0345:Myo5c	UTSW	9	75297419	missense	probably damaging	1.00
R0387:Myo5c	UTSW	9	75285021	splice site	probably benign
R0602:Myo5c	UTSW	9	75266196	splice site	probably null
R0675:Myo5c	UTSW	9	75278289	missense	probably benign
R0798:Myo5c	UTSW	9	75257984	missense	probably damaging	1.00
R0981:Myo5c	UTSW	9	75271591	missense	probably damaging	1.00
R1051:Myo5c	UTSW	9	75290883	missense	probably benign	0.00
R1072:Myo5c	UTSW	9	75292208	missense	probably damaging	1.00
R1144:Myo5c	UTSW	9	75286448	missense	probably damaging	1.00
R1454:Myo5c	UTSW	9	75263066	missense	possibly damaging	0.94
R1476:Myo5c	UTSW	9	75275939	missense	probably damaging	1.00
R1484:Myo5c	UTSW	9	75300810	missense	probably damaging	1.00
R1586:Myo5c	UTSW	9	75267031	missense	probably damaging	0.99
R1616:Myo5c	UTSW	9	75296017	missense	probably damaging	1.00
R1635:Myo5c	UTSW	9	75277075	missense	probably benign	0.09
R1800:Myo5c	UTSW	9	75246164	missense	probably damaging	1.00
R1838:Myo5c	UTSW	9	75273553	missense	probably damaging	1.00
R1840:Myo5c	UTSW	9	75249735	missense	probably damaging	1.00
R1885:Myo5c	UTSW	9	75249761	missense	probably damaging	1.00
R1897:Myo5c	UTSW	9	75292241	missense	probably benign	0.20
R1898:Myo5c	UTSW	9	75297626	missense	probably damaging	1.00
R2029:Myo5c	UTSW	9	75289055	unclassified	probably benign
R2063:Myo5c	UTSW	9	75281868	missense	probably benign	0.19
R2230:Myo5c	UTSW	9	75273606	missense	probably benign
R2519:Myo5c	UTSW	9	75250436	missense	probably damaging	1.00
R2520:Myo5c	UTSW	9	75297649	nonsense	probably null
R3117:Myo5c	UTSW	9	75266194	critical splice donor site	probably null
R3432:Myo5c	UTSW	9	75263001	missense	probably damaging	1.00
R3751:Myo5c	UTSW	9	75276002	missense	probably damaging	1.00
R4132:Myo5c	UTSW	9	75252568	missense	probably benign	0.00
R4173:Myo5c	UTSW	9	75246258	missense	probably damaging	1.00
R4239:Myo5c	UTSW	9	75283942	missense	probably benign	0.01
R4429:Myo5c	UTSW	9	75294001	missense	probably damaging	1.00
R4574:Myo5c	UTSW	9	75269611	missense	probably benign	0.00
R4791:Myo5c	UTSW	9	75290916	missense	probably damaging	1.00
R4804:Myo5c	UTSW	9	75245024	missense	probably damaging	1.00
R4819:Myo5c	UTSW	9	75292202	missense	probably damaging	0.97
R4881:Myo5c	UTSW	9	75284152	missense	probably benign	0.00
R4900:Myo5c	UTSW	9	75273543	missense	probably damaging	1.00
R4964:Myo5c	UTSW	9	75297509	missense	possibly damaging	0.51
R4966:Myo5c	UTSW	9	75269596	missense	probably benign	0.03
R5057:Myo5c	UTSW	9	75300873	missense	probably damaging	1.00
R5347:Myo5c	UTSW	9	75295205	missense	probably null	1.00
R5399:Myo5c	UTSW	9	75288074	missense	possibly damaging	0.80
R5440:Myo5c	UTSW	9	75258125	missense	possibly damaging	0.91
R5569:Myo5c	UTSW	9	75273510	missense	probably damaging	1.00
R5600:Myo5c	UTSW	9	75289154	missense	probably benign	0.00
R5606:Myo5c	UTSW	9	75275508	missense	probably damaging	1.00
R5704:Myo5c	UTSW	9	75272903	missense	probably benign	0.00
R5798:Myo5c	UTSW	9	75284198	missense	probably benign	0.04
R5865:Myo5c	UTSW	9	75297488	missense	probably damaging	0.97
R6034:Myo5c	UTSW	9	75255905	missense	probably benign	0.05
R6034:Myo5c	UTSW	9	75255905	missense	probably benign	0.05
R6143:Myo5c	UTSW	9	75249809	missense	probably damaging	1.00
R6242:Myo5c	UTSW	9	75273611	missense	probably benign
R6253:Myo5c	UTSW	9	75245037	missense	probably damaging	1.00
R6264:Myo5c	UTSW	9	75275554	missense	probably benign
R6307:Myo5c	UTSW	9	75272916	missense	possibly damaging	0.73
R6358:Myo5c	UTSW	9	75296012	missense	possibly damaging	0.53
R6450:Myo5c	UTSW	9	75286578	missense	probably benign	0.26
R6598:Myo5c	UTSW	9	75246234	missense	probably damaging	1.00
R6618:Myo5c	UTSW	9	75275637	critical splice donor site	probably null
R6774:Myo5c	UTSW	9	75289186	missense	probably benign	0.05
R6865:Myo5c	UTSW	9	75269596	missense	probably benign	0.03
R6996:Myo5c	UTSW	9	75250464	missense	probably benign	0.01
R7023:Myo5c	UTSW	9	75301456	missense	probably damaging	0.98
R7123:Myo5c	UTSW	9	75289223	missense	probably benign
R7250:Myo5c	UTSW	9	75262215	missense	probably damaging	1.00
R7316:Myo5c	UTSW	9	75269638	missense	probably benign	0.00
R7340:Myo5c	UTSW	9	75289141	missense	probably benign
R7382:Myo5c	UTSW	9	75304050	missense	probably damaging	1.00
R7426:Myo5c	UTSW	9	75251527	splice site	probably null
R7788:Myo5c	UTSW	9	75279345	missense	probably damaging	0.98
Z1088:Myo5c	UTSW	9	75245059	missense	probably damaging	1.00
Z1177:Myo5c	UTSW	9	75246255	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTTCTGGAGAGCCATTTCC -3'
(R):5'- AGCTCATTCACACAATTTGCAC -3'

Sequencing Primer
(F):5'- GCCATTTCCAGTCTCAGAAGGATTG -3'
(R):5'- CAAACCTGAGTGTTTTCTAACCTGGG -3'

Posted On

2015-02-05