Mutagenetix > Incidental Mutation

Incidental Mutation 'R1144:Myo5c'

102290

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

039217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1144 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

75139302-75212733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75193730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1162 (Y1162N)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

AlphaFold

E9Q1F5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036555
AA Change: Y1162N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: Y1162N

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

0.0780

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,083 (GRCm39)		probably benign	Het
Abcc5	A	T	16: 20,241,188 (GRCm39)		probably benign	Het
Acsl5	A	C	19: 55,280,275 (GRCm39)	D516A	probably damaging	Het
Adcy1	G	A	11: 7,087,400 (GRCm39)	A425T	probably damaging	Het
Aebp1	A	G	11: 5,818,475 (GRCm39)	T107A	probably benign	Het
Arhgef33	T	C	17: 80,662,473 (GRCm39)	S219P	probably benign	Het
Atm	T	G	9: 53,422,998 (GRCm39)		probably benign	Het
C1ql2	A	C	1: 120,270,266 (GRCm39)	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,527,595 (GRCm39)		probably null	Het
Cmbl	A	G	15: 31,582,020 (GRCm39)	N6D	probably benign	Het
Cntn3	A	G	6: 102,219,087 (GRCm39)	V511A	possibly damaging	Het
Coq9	C	A	8: 95,569,251 (GRCm39)	R28S	probably benign	Het
Creld1	T	C	6: 113,460,922 (GRCm39)	F20S	probably benign	Het
Dcstamp	A	G	15: 39,623,764 (GRCm39)	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,052,131 (GRCm39)	I244K	probably benign	Het
Dnhd1	G	A	7: 105,362,238 (GRCm39)	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 77,887,739 (GRCm39)	C110S	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr1	T	G	8: 26,048,159 (GRCm39)	V172G	probably damaging	Het
Frem3	C	A	8: 81,338,513 (GRCm39)	Q269K	probably benign	Het
Frmd6	C	A	12: 70,923,942 (GRCm39)	H67N	probably damaging	Het
Fry	A	G	5: 150,341,929 (GRCm39)	T1532A	possibly damaging	Het
Git2	G	T	5: 114,891,375 (GRCm39)	S243R	probably benign	Het
Grid1	A	G	14: 35,284,633 (GRCm39)		probably benign	Het
Grp	A	G	18: 66,013,041 (GRCm39)	D69G	probably damaging	Het
Hmbox1	A	T	14: 65,063,132 (GRCm39)	L347Q	probably damaging	Het
Hsh2d	C	T	8: 72,947,436 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,333,897 (GRCm39)	S2018N	probably benign	Het
Kif13b	T	A	14: 64,951,566 (GRCm39)	V69D	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lmcd1	T	A	6: 112,287,712 (GRCm39)		probably benign	Het
Megf9	C	A	4: 70,452,861 (GRCm39)	A67S	probably benign	Het
Myo5b	G	A	18: 74,758,658 (GRCm39)	R213H	probably damaging	Het
Nphs1	A	G	7: 30,181,103 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,688,849 (GRCm39)	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,190,705 (GRCm39)	H58R	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Plxna4	A	T	6: 32,174,091 (GRCm39)	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,777,183 (GRCm39)	D483G	probably benign	Het
Prdm15	G	A	16: 97,609,908 (GRCm39)	R579C	probably damaging	Het
Prickle1	T	A	15: 93,410,342 (GRCm39)	R41W	probably damaging	Het
Rbm19	A	G	5: 120,261,081 (GRCm39)	D235G	possibly damaging	Het
Smco2	A	G	6: 146,772,638 (GRCm39)		probably benign	Het
Sned1	G	C	1: 93,208,298 (GRCm39)	G785R	probably damaging	Het
Stat4	A	G	1: 52,123,288 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,013,298 (GRCm39)	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,963,200 (GRCm39)	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,026 (GRCm39)		probably benign	Het
Tmem63b	T	A	17: 45,977,353 (GRCm39)	K383N	probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Trub1	G	A	19: 57,473,563 (GRCm39)	V207M	probably benign	Het
Ulk2	A	T	11: 61,690,886 (GRCm39)	C551S	possibly damaging	Het
Urb1	A	T	16: 90,573,206 (GRCm39)		probably null	Het
Vmn1r219	C	A	13: 23,347,383 (GRCm39)	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 63,997,541 (GRCm39)	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,312,098 (GRCm39)		probably benign	Het
Wars1	A	T	12: 108,854,291 (GRCm39)	L41*	probably null	Het
Washc2	G	A	6: 116,201,495 (GRCm39)	E64K	probably damaging	Het
Washc4	G	A	10: 83,416,194 (GRCm39)	R828Q	probably damaging	Het
Wdr59	A	T	8: 112,213,576 (GRCm39)	M313K	probably benign	Het
Wscd2	G	A	5: 113,699,151 (GRCm39)		probably null	Het
Zdhhc20	A	C	14: 58,094,135 (GRCm39)	L176V	probably benign	Het

Other mutations in Myo5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Myo5c	APN	9	75,150,162 (GRCm39)	splice site	probably benign
IGL00848:Myo5c	APN	9	75,196,463 (GRCm39)	missense	probably benign
IGL01503:Myo5c	APN	9	75,170,324 (GRCm39)	missense	probably damaging	1.00
IGL01735:Myo5c	APN	9	75,208,720 (GRCm39)	missense	probably damaging	1.00
IGL01866:Myo5c	APN	9	75,176,864 (GRCm39)	missense	probably benign	0.00
IGL01956:Myo5c	APN	9	75,150,158 (GRCm39)	splice site	probably null
IGL02127:Myo5c	APN	9	75,208,184 (GRCm39)	missense	probably damaging	1.00
IGL02268:Myo5c	APN	9	75,153,519 (GRCm39)	missense	probably damaging	1.00
IGL02272:Myo5c	APN	9	75,173,442 (GRCm39)	missense	possibly damaging	0.73
IGL03052:Myo5c	APN	9	75,159,798 (GRCm39)	splice site	probably benign
IGL03179:Myo5c	APN	9	75,163,148 (GRCm39)	missense	possibly damaging	0.65
IGL03224:Myo5c	APN	9	75,185,525 (GRCm39)	missense	probably benign	0.01
Marked	UTSW	9	75,182,919 (GRCm39)	critical splice donor site	probably null
pixie	UTSW	9	75,193,860 (GRCm39)	missense	probably benign	0.26
PIT4142001:Myo5c	UTSW	9	75,191,230 (GRCm39)	missense	probably benign	0.00
PIT4431001:Myo5c	UTSW	9	75,159,853 (GRCm39)	missense	possibly damaging	0.75
R0126:Myo5c	UTSW	9	75,176,807 (GRCm39)	missense	probably benign	0.05
R0266:Myo5c	UTSW	9	75,191,498 (GRCm39)	splice site	probably benign
R0345:Myo5c	UTSW	9	75,204,701 (GRCm39)	missense	probably damaging	1.00
R0387:Myo5c	UTSW	9	75,192,303 (GRCm39)	splice site	probably benign
R0602:Myo5c	UTSW	9	75,173,478 (GRCm39)	splice site	probably null
R0675:Myo5c	UTSW	9	75,185,571 (GRCm39)	missense	probably benign
R0798:Myo5c	UTSW	9	75,165,266 (GRCm39)	missense	probably damaging	1.00
R0981:Myo5c	UTSW	9	75,178,873 (GRCm39)	missense	probably damaging	1.00
R1051:Myo5c	UTSW	9	75,198,165 (GRCm39)	missense	probably benign	0.00
R1072:Myo5c	UTSW	9	75,199,490 (GRCm39)	missense	probably damaging	1.00
R1454:Myo5c	UTSW	9	75,170,348 (GRCm39)	missense	possibly damaging	0.94
R1476:Myo5c	UTSW	9	75,183,221 (GRCm39)	missense	probably damaging	1.00
R1484:Myo5c	UTSW	9	75,208,092 (GRCm39)	missense	probably damaging	1.00
R1586:Myo5c	UTSW	9	75,174,313 (GRCm39)	missense	probably damaging	0.99
R1616:Myo5c	UTSW	9	75,203,299 (GRCm39)	missense	probably damaging	1.00
R1635:Myo5c	UTSW	9	75,184,357 (GRCm39)	missense	probably benign	0.09
R1800:Myo5c	UTSW	9	75,153,446 (GRCm39)	missense	probably damaging	1.00
R1838:Myo5c	UTSW	9	75,180,835 (GRCm39)	missense	probably damaging	1.00
R1840:Myo5c	UTSW	9	75,157,017 (GRCm39)	missense	probably damaging	1.00
R1885:Myo5c	UTSW	9	75,157,043 (GRCm39)	missense	probably damaging	1.00
R1897:Myo5c	UTSW	9	75,199,523 (GRCm39)	missense	probably benign	0.20
R1898:Myo5c	UTSW	9	75,204,908 (GRCm39)	missense	probably damaging	1.00
R2029:Myo5c	UTSW	9	75,196,337 (GRCm39)	unclassified	probably benign
R2063:Myo5c	UTSW	9	75,189,150 (GRCm39)	missense	probably benign	0.19
R2230:Myo5c	UTSW	9	75,180,888 (GRCm39)	missense	probably benign
R2519:Myo5c	UTSW	9	75,157,718 (GRCm39)	missense	probably damaging	1.00
R2520:Myo5c	UTSW	9	75,204,931 (GRCm39)	nonsense	probably null
R3034:Myo5c	UTSW	9	75,193,859 (GRCm39)	missense	probably benign	0.44
R3117:Myo5c	UTSW	9	75,173,476 (GRCm39)	critical splice donor site	probably null
R3432:Myo5c	UTSW	9	75,170,283 (GRCm39)	missense	probably damaging	1.00
R3751:Myo5c	UTSW	9	75,183,284 (GRCm39)	missense	probably damaging	1.00
R4132:Myo5c	UTSW	9	75,159,850 (GRCm39)	missense	probably benign	0.00
R4173:Myo5c	UTSW	9	75,153,540 (GRCm39)	missense	probably damaging	1.00
R4239:Myo5c	UTSW	9	75,191,224 (GRCm39)	missense	probably benign	0.01
R4429:Myo5c	UTSW	9	75,201,283 (GRCm39)	missense	probably damaging	1.00
R4574:Myo5c	UTSW	9	75,176,893 (GRCm39)	missense	probably benign	0.00
R4791:Myo5c	UTSW	9	75,198,198 (GRCm39)	missense	probably damaging	1.00
R4804:Myo5c	UTSW	9	75,152,306 (GRCm39)	missense	probably damaging	1.00
R4819:Myo5c	UTSW	9	75,199,484 (GRCm39)	missense	probably damaging	0.97
R4881:Myo5c	UTSW	9	75,191,434 (GRCm39)	missense	probably benign	0.00
R4900:Myo5c	UTSW	9	75,180,825 (GRCm39)	missense	probably damaging	1.00
R4964:Myo5c	UTSW	9	75,204,791 (GRCm39)	missense	possibly damaging	0.51
R4966:Myo5c	UTSW	9	75,176,878 (GRCm39)	missense	probably benign	0.03
R5057:Myo5c	UTSW	9	75,208,155 (GRCm39)	missense	probably damaging	1.00
R5347:Myo5c	UTSW	9	75,202,487 (GRCm39)	missense	probably null	1.00
R5399:Myo5c	UTSW	9	75,195,356 (GRCm39)	missense	possibly damaging	0.80
R5440:Myo5c	UTSW	9	75,165,407 (GRCm39)	missense	possibly damaging	0.91
R5569:Myo5c	UTSW	9	75,180,792 (GRCm39)	missense	probably damaging	1.00
R5600:Myo5c	UTSW	9	75,196,436 (GRCm39)	missense	probably benign	0.00
R5606:Myo5c	UTSW	9	75,182,790 (GRCm39)	missense	probably damaging	1.00
R5704:Myo5c	UTSW	9	75,180,185 (GRCm39)	missense	probably benign	0.00
R5798:Myo5c	UTSW	9	75,191,480 (GRCm39)	missense	probably benign	0.04
R5865:Myo5c	UTSW	9	75,204,770 (GRCm39)	missense	probably damaging	0.97
R6034:Myo5c	UTSW	9	75,163,187 (GRCm39)	missense	probably benign	0.05
R6034:Myo5c	UTSW	9	75,163,187 (GRCm39)	missense	probably benign	0.05
R6143:Myo5c	UTSW	9	75,157,091 (GRCm39)	missense	probably damaging	1.00
R6242:Myo5c	UTSW	9	75,180,893 (GRCm39)	missense	probably benign
R6253:Myo5c	UTSW	9	75,152,319 (GRCm39)	missense	probably damaging	1.00
R6264:Myo5c	UTSW	9	75,182,836 (GRCm39)	missense	probably benign
R6307:Myo5c	UTSW	9	75,180,198 (GRCm39)	missense	possibly damaging	0.73
R6358:Myo5c	UTSW	9	75,203,294 (GRCm39)	missense	possibly damaging	0.53
R6450:Myo5c	UTSW	9	75,193,860 (GRCm39)	missense	probably benign	0.26
R6598:Myo5c	UTSW	9	75,153,516 (GRCm39)	missense	probably damaging	1.00
R6618:Myo5c	UTSW	9	75,182,919 (GRCm39)	critical splice donor site	probably null
R6774:Myo5c	UTSW	9	75,196,468 (GRCm39)	missense	probably benign	0.05
R6865:Myo5c	UTSW	9	75,176,878 (GRCm39)	missense	probably benign	0.03
R6996:Myo5c	UTSW	9	75,157,746 (GRCm39)	missense	probably benign	0.01
R7023:Myo5c	UTSW	9	75,208,738 (GRCm39)	missense	probably damaging	0.98
R7123:Myo5c	UTSW	9	75,196,505 (GRCm39)	missense	probably benign
R7250:Myo5c	UTSW	9	75,169,497 (GRCm39)	missense	probably damaging	1.00
R7316:Myo5c	UTSW	9	75,176,920 (GRCm39)	missense	probably benign	0.00
R7340:Myo5c	UTSW	9	75,196,423 (GRCm39)	missense	probably benign
R7382:Myo5c	UTSW	9	75,211,332 (GRCm39)	missense	probably damaging	1.00
R7426:Myo5c	UTSW	9	75,158,809 (GRCm39)	splice site	probably null
R7788:Myo5c	UTSW	9	75,186,627 (GRCm39)	missense	probably damaging	0.98
R7956:Myo5c	UTSW	9	75,159,845 (GRCm39)	missense	probably benign
R8082:Myo5c	UTSW	9	75,182,793 (GRCm39)	missense	possibly damaging	0.89
R8290:Myo5c	UTSW	9	75,196,178 (GRCm39)	missense	probably benign	0.01
R8406:Myo5c	UTSW	9	75,182,823 (GRCm39)	missense	probably damaging	1.00
R8481:Myo5c	UTSW	9	75,208,726 (GRCm39)	missense	probably damaging	1.00
R8489:Myo5c	UTSW	9	75,180,128 (GRCm39)	missense	probably damaging	0.98
R8505:Myo5c	UTSW	9	75,153,423 (GRCm39)	missense	probably damaging	1.00
R8685:Myo5c	UTSW	9	75,192,229 (GRCm39)	missense	possibly damaging	0.66
R8806:Myo5c	UTSW	9	75,150,054 (GRCm39)	missense	probably damaging	1.00
R8871:Myo5c	UTSW	9	75,185,585 (GRCm39)	missense	probably benign	0.10
R9323:Myo5c	UTSW	9	75,153,531 (GRCm39)	missense	probably damaging	1.00
R9484:Myo5c	UTSW	9	75,204,770 (GRCm39)	missense	probably damaging	0.99
R9639:Myo5c	UTSW	9	75,165,477 (GRCm39)	missense	probably damaging	1.00
Z1088:Myo5c	UTSW	9	75,152,341 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo5c	UTSW	9	75,153,537 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15