Mutagenetix > Incidental Mutations

Incidental Mutation 'R4804:Myo5c'

370553

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

041998-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75245024 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 65 (I65F)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000036555
AA Change: I65F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: I65F

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

probably damaging
Transcript: ENSMUST00000216788
AA Change: I65F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.1095

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,000	M251K	possibly damaging	Het
4930527J03Rik	T	C	1: 178,276,109		noncoding transcript	Het
Akap2	T	C	4: 57,854,688	S67P	probably benign	Het
Ap4e1	T	C	2: 127,043,758		probably null	Het
Apbb1ip	T	C	2: 22,823,598		probably null	Het
Apol11b	T	A	15: 77,635,266	I205F	probably damaging	Het
Arl6ip1	A	T	7: 118,129,552		probably null	Het
Barx2	A	G	9: 31,846,812	S277P	unknown	Het
BC035947	T	G	1: 78,497,876	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,359,208	I930F	probably damaging	Het
Cd226	T	C	18: 89,207,168	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,296,399	K236E	probably damaging	Het
Cds1	T	C	5: 101,821,523	L449P	probably damaging	Het
Celsr1	T	C	15: 85,937,953	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,719,257	D934G	probably benign	Het
Clk4	T	A	11: 51,281,323	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,491,575	T853N	probably benign	Het
Col26a1	A	G	5: 136,836,725	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,629,652		probably null	Het
Ddx39	A	G	8: 83,721,095	K190E	probably damaging	Het
Dgkg	G	A	16: 22,575,193		probably benign	Het
Dnajc14	A	T	10: 128,814,057	H477L	probably benign	Het
Dytn	A	G	1: 63,643,366	V374A	probably benign	Het
Gfra2	T	C	14: 70,925,921	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,957,569	I376T	probably damaging	Het
Gzmm	A	T	10: 79,695,056	T231S	probably benign	Het
Hecw1	A	G	13: 14,305,985	S499P	probably benign	Het
Hhla1	T	C	15: 65,923,099	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,705,336	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,490,574	V60A	probably benign	Het
Ipo4	G	C	14: 55,630,856	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,392,533		noncoding transcript	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Mblac2	T	A	13: 81,750,309	L268*	probably null	Het
Mipep	C	T	14: 60,802,952	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,304,040	S385P	possibly damaging	Het
Myh2	T	A	11: 67,186,502	I821N	possibly damaging	Het
Neurog1	A	G	13: 56,251,766	L56P	probably benign	Het
Nrsn1	C	A	13: 25,253,597	C116F	probably benign	Het
Nynrin	T	C	14: 55,864,869	V665A	probably benign	Het
Olfr1369-ps1	T	A	13: 21,116,005	Y104*	probably null	Het
Olfr1490	A	G	19: 13,654,518	M30V	probably benign	Het
Olfr988	T	C	2: 85,353,081	I282V	probably benign	Het
Pcdhac1	C	T	18: 37,091,178	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,574,202	I932T	probably benign	Het
Pfkl	G	A	10: 77,991,394	T486I	probably benign	Het
Pi4ka	A	T	16: 17,308,161	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,493,765	W173R	probably damaging	Het
Rnf111	A	T	9: 70,430,957	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,717,097	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,763,080		probably null	Het
Slc25a13	A	T	6: 6,109,213	L383H	probably damaging	Het
Slco2a1	C	T	9: 103,073,184	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882	N162S	probably benign	Het
Syne1	G	T	10: 5,349,310	Q982K	possibly damaging	Het
Tbc1d31	C	T	15: 57,951,106	Q568*	probably null	Het
Tbc1d9	G	A	8: 83,255,925		probably null	Het
Tbx3	A	G	5: 119,680,512	D384G	possibly damaging	Het
Tecta	T	C	9: 42,398,237	I14V	probably benign	Het
Tgm1	A	T	14: 55,705,619	V588E	probably benign	Het
Tpk1	A	C	6: 43,593,078		probably benign	Het
Tspear	A	T	10: 77,776,957		probably null	Het
Ubxn10	G	T	4: 138,721,204	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,266,404	R312*	probably null	Het
Vmn1r230	A	T	17: 20,847,083	K178M	probably damaging	Het
Zfp143	G	A	7: 110,088,769	V445I	probably damaging	Het
Zfp688	C	A	7: 127,421,885	W40C	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
Marked	UTSW	9	75275637	critical splice donor site	probably null
pixie	UTSW	9	75286578	missense	probably benign	0.26
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
R3034:Myo5c	UTSW	9	75286577	missense	probably benign	0.44
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
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
R7956:Myo5c	UTSW	9	75252563	missense	probably benign
R8082:Myo5c	UTSW	9	75275511	missense	possibly damaging	0.89
R8290:Myo5c	UTSW	9	75288896	missense	probably benign	0.01
R8406:Myo5c	UTSW	9	75275541	missense	probably damaging	1.00
R8481:Myo5c	UTSW	9	75301444	missense	probably damaging	1.00
R8489:Myo5c	UTSW	9	75272846	missense	probably damaging	0.98
R8505:Myo5c	UTSW	9	75246141	missense	probably damaging	1.00
R8685:Myo5c	UTSW	9	75284947	missense	possibly damaging	0.66
R8806:Myo5c	UTSW	9	75242772	missense	probably damaging	1.00
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'- GTCATGCATATACACACTAGCAAG -3'
(R):5'- ACTCAGCATCGAGAGTGCTC -3'

Sequencing Primer
(F):5'- TAACCTCTTAAAAAGTGTGGGGTG -3'
(R):5'- ATGAGTTTGGACTCTGCG -3'

Posted On

2016-02-04