Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Myo5c'

486447

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75139302-75212733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75163187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 339 (T339S)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

AlphaFold

E9Q1F5

Predicted Effect

probably benign
Transcript: ENSMUST00000036555
AA Change: T339S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: T339S

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: ENSMUST00000215352

Predicted Effect

probably benign
Transcript: ENSMUST00000216788

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
Slc22a15	A	G	3: 101,770,235 (GRCm39)	F451L	possibly damaging	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	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
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
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
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'- AAGCTCACTTCACACTCCTG -3'
(R):5'- ACAACCCCTGGAAAGCTTTC -3'

Sequencing Primer
(F):5'- TGTCCCAAGAAAAGCCTGCTTC -3'
(R):5'- CCTGGAAAGCTTTCTTCCTCG -3'

Posted On

2017-08-16