Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03224:Myo5c'

413746

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03224

Quality Score

Status

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75278243 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 963 (K963E)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036555
AA Change: K963E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: K963E

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 benign
Transcript: ENSMUST00000216788

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	G	7: 118,792,553		probably benign	Het
Ash1l	T	C	3: 89,035,268		probably benign	Het
Capn10	T	G	1: 92,939,324	V92G	probably damaging	Het
Cntn2	A	G	1: 132,523,042	C532R	probably damaging	Het
Csf1r	T	C	18: 61,112,062	F233L	probably damaging	Het
Cts6	T	C	13: 61,201,733	D82G	probably damaging	Het
Cym	T	C	3: 107,218,732	S72G	possibly damaging	Het
Cyp4a29	T	A	4: 115,247,050	M105K	probably damaging	Het
Dhx35	T	C	2: 158,857,132		probably benign	Het
Dnah5	C	A	15: 28,459,154	D4506E	probably damaging	Het
Dok5	T	C	2: 170,832,887	F139L	possibly damaging	Het
Dync2h1	T	C	9: 7,076,235	D2974G	probably benign	Het
Frem3	C	T	8: 80,613,463	T795I	probably damaging	Het
Ints6l	A	G	X: 56,497,927	T525A	probably damaging	Het
Lrp1b	T	C	2: 41,471,031	T587A	possibly damaging	Het
Meikin	A	G	11: 54,398,460	M220V	probably benign	Het
Mmp12	T	A	9: 7,350,002		probably benign	Het
Mpp7	T	C	18: 7,403,269	D347G	probably benign	Het
Myo3b	A	G	2: 70,349,939	Y1190C	probably benign	Het
Nipbl	T	C	15: 8,293,085	D2614G	probably damaging	Het
Ppp1r3f	A	G	X: 7,560,582	V480A	probably benign	Het
Prkcb	A	T	7: 122,516,924	K209*	probably null	Het
Rasgef1a	A	G	6: 118,089,806		probably benign	Het
Ryr3	A	T	2: 112,954,336	C233*	probably null	Het
Scn8a	A	G	15: 101,035,639	R1534G	probably damaging	Het
Slitrk3	A	T	3: 73,049,930	L503H	possibly damaging	Het
Spag17	A	G	3: 100,010,840	K380E	possibly damaging	Het
Spata31d1a	A	G	13: 59,701,026	V1096A	possibly damaging	Het
Synrg	C	T	11: 84,039,666	T1278M	possibly damaging	Het
Teddm1a	G	T	1: 153,892,017	V76F	possibly damaging	Het
Troap	A	G	15: 99,081,877	T365A	probably benign	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
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
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
R7788:Myo5c	UTSW	9	75279345	missense	probably damaging	0.98
Z1088:Myo5c	UTSW	9	75245059	missense	probably damaging	1.00

Posted On

2016-08-02