Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Myo5c'

280909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

75139302-75212733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75208184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 1639 (W1639C)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

AlphaFold

E9Q1F5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036555
AA Change: W1639C

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

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: W1639C

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: ENSMUST00000213424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216529

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,946,878 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kcnu1	T	C	8: 26,382,090 (GRCm39)	L480P	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5a	T	C	9: 75,120,263 (GRCm39)	V1687A	probably benign	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Or4a76	A	G	2: 89,461,098 (GRCm39)	I48T	probably damaging	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	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
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
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

Posted On

2015-04-16