Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Myo5c'

31356

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75139302-75212733 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 75192303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150730 (fasta)

Gene Model

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

AlphaFold

E9Q1F5

Predicted Effect

probably benign
Transcript: ENSMUST00000036555

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590

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

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	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
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
R1144:Myo5c	UTSW	9	75,193,730 (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

PCR Primer
(F):5'- CTGTAGGGACGACATACACAAGCC -3'
(R):5'- GCTGCATGAGCTAGTGAAGGGATATAC -3'

Sequencing Primer
(F):5'- CATACACAAGCCATGTAAAGGTG -3'
(R):5'- gagccaaatccccagcc -3'

Posted On

2013-04-24