Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Myo5c'

286995

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 #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

75139302-75212733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75153519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 135 (P135L)

Ref Sequence

ENSEMBL: ENSMUSP00000150730 (fasta)

Gene Model

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

AlphaFold

E9Q1F5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036555
AA Change: P135L

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

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: P135L

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 damaging
Transcript: ENSMUST00000216788
AA Change: P135L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	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
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