Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Myo5c'

205515

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75273553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 741 (R741S)

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: R741S

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

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: R741S

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 benign
Transcript: ENSMUST00000216788

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,626,727	D22G	unknown	Het
Abca4	G	A	3: 122,128,305	R1170K	probably benign	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,493,373	R267L	probably damaging	Het
Adgrb2	A	T	4: 130,010,231	T717S	probably benign	Het
Adgrb3	A	G	1: 25,084,270	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,414,172	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Btnl6	T	A	17: 34,515,542	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,067,638	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,794,891		probably null	Het
Cdhr5	C	T	7: 141,272,603	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,845,542	D26G	probably damaging	Het
Ctr9	G	T	7: 111,052,303	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 27,158,416	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,911,632		probably null	Het
Dennd3	T	C	15: 73,565,100	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,825,178	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,116,177	V295A	probably benign	Het
Dnah7b	C	A	1: 46,277,105	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,717,691	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,853,678	I447L	probably benign	Het
Glt1d1	G	A	5: 127,678,129	V202I	probably benign	Het
Grk1	T	C	8: 13,416,155	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Gzma	T	A	13: 113,095,984	I131F	probably damaging	Het
Helq	A	T	5: 100,771,879	L35*	probably null	Het
Hnrnpll	T	C	17: 80,038,623	N403S	probably damaging	Het
Hsf5	A	G	11: 87,636,055	K518E	probably benign	Het
Ighe	T	A	12: 113,271,850	H258L	unknown	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Ints13	C	T	6: 146,566,611	A129T	possibly damaging	Het
Ipo7	T	A	7: 110,042,109	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,104,512	E136D	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,785,396		probably benign	Het
Lamc3	T	C	2: 31,925,582	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,572,170	N114K	probably benign	Het
Lrfn1	A	T	7: 28,459,768	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,132,388	V240A	probably benign	Het
Lypd1	A	T	1: 125,873,371		probably benign	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Man2c1	A	G	9: 57,137,337	N354S	probably benign	Het
Map3k13	T	C	16: 21,914,189	Y514H	possibly damaging	Het
Med15	T	C	16: 17,653,562	D577G	probably benign	Het
Mroh4	A	T	15: 74,616,113	M320K	probably benign	Het
Ms4a10	T	A	19: 10,964,047	D186V	possibly damaging	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Naip6	T	C	13: 100,316,136	D139G	probably damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Olfr1252	A	T	2: 89,721,709	M134K	probably damaging	Het
Olfr1370	A	T	13: 21,072,425	L292*	probably null	Het
Olfr229	A	T	9: 39,909,841	I13F	possibly damaging	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Pcdhb3	A	G	18: 37,301,317	D112G	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Pgm3	C	T	9: 86,569,233	V123I	probably benign	Het
Pms1	A	C	1: 53,192,098		probably null	Het
Prl2b1	A	G	13: 27,388,566	S14P	possibly damaging	Het
Prune2	T	A	19: 17,199,878	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,213,021	E422G	probably benign	Het
Ralyl	A	G	3: 14,143,412	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,651,680		probably benign	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,231,198	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,058,436	H63L	probably benign	Het
Smpd4	G	A	16: 17,642,302		probably null	Het
Sp3	A	G	2: 72,938,176	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,715,857	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,717,465	R809K	probably benign	Het
Tmco5	A	T	2: 116,880,879	E90V	probably damaging	Het
Tnxb	A	T	17: 34,678,910	D844V	probably damaging	Het
Tpi1	T	C	6: 124,814,152	T41A	probably benign	Het
Ttn	T	C	2: 76,727,192	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,024,771	T5I	probably benign	Het
Wdr95	A	G	5: 149,599,366	D663G	probably benign	Het
Zbtb39	T	C	10: 127,742,700	F381S	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp646	T	A	7: 127,879,739	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,042,047	C139G	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Myo5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Myo5c	APN	9	75242880	splice site	probably benign
IGL00848:Myo5c	APN	9	75289181	missense	probably benign
IGL01503:Myo5c	APN	9	75263042	missense	probably damaging	1.00
IGL01735:Myo5c	APN	9	75301438	missense	probably damaging	1.00
IGL01866:Myo5c	APN	9	75269582	missense	probably benign	0.00
IGL01956:Myo5c	APN	9	75242876	splice site	probably null
IGL02127:Myo5c	APN	9	75300902	missense	probably damaging	1.00
IGL02268:Myo5c	APN	9	75246237	missense	probably damaging	1.00
IGL02272:Myo5c	APN	9	75266160	missense	possibly damaging	0.73
IGL03052:Myo5c	APN	9	75252516	splice site	probably benign
IGL03179:Myo5c	APN	9	75255866	missense	possibly damaging	0.65
IGL03224:Myo5c	APN	9	75278243	missense	probably benign	0.01
Marked	UTSW	9	75275637	critical splice donor site	probably null
pixie	UTSW	9	75286578	missense	probably benign	0.26
PIT4142001:Myo5c	UTSW	9	75283948	missense	probably benign	0.00
PIT4431001:Myo5c	UTSW	9	75252571	missense	possibly damaging	0.75
R0126:Myo5c	UTSW	9	75269525	missense	probably benign	0.05
R0266:Myo5c	UTSW	9	75284216	splice site	probably benign
R0345:Myo5c	UTSW	9	75297419	missense	probably damaging	1.00
R0387:Myo5c	UTSW	9	75285021	splice site	probably benign
R0602:Myo5c	UTSW	9	75266196	splice site	probably null
R0675:Myo5c	UTSW	9	75278289	missense	probably benign
R0798:Myo5c	UTSW	9	75257984	missense	probably damaging	1.00
R0981:Myo5c	UTSW	9	75271591	missense	probably damaging	1.00
R1051:Myo5c	UTSW	9	75290883	missense	probably benign	0.00
R1072:Myo5c	UTSW	9	75292208	missense	probably damaging	1.00
R1144:Myo5c	UTSW	9	75286448	missense	probably damaging	1.00
R1454:Myo5c	UTSW	9	75263066	missense	possibly damaging	0.94
R1476:Myo5c	UTSW	9	75275939	missense	probably damaging	1.00
R1484:Myo5c	UTSW	9	75300810	missense	probably damaging	1.00
R1586:Myo5c	UTSW	9	75267031	missense	probably damaging	0.99
R1616:Myo5c	UTSW	9	75296017	missense	probably damaging	1.00
R1635:Myo5c	UTSW	9	75277075	missense	probably benign	0.09
R1800:Myo5c	UTSW	9	75246164	missense	probably damaging	1.00
R1840:Myo5c	UTSW	9	75249735	missense	probably damaging	1.00
R1885:Myo5c	UTSW	9	75249761	missense	probably damaging	1.00
R1897:Myo5c	UTSW	9	75292241	missense	probably benign	0.20
R1898:Myo5c	UTSW	9	75297626	missense	probably damaging	1.00
R2029:Myo5c	UTSW	9	75289055	unclassified	probably benign
R2063:Myo5c	UTSW	9	75281868	missense	probably benign	0.19
R2230:Myo5c	UTSW	9	75273606	missense	probably benign
R2519:Myo5c	UTSW	9	75250436	missense	probably damaging	1.00
R2520:Myo5c	UTSW	9	75297649	nonsense	probably null
R3034:Myo5c	UTSW	9	75286577	missense	probably benign	0.44
R3117:Myo5c	UTSW	9	75266194	critical splice donor site	probably null
R3432:Myo5c	UTSW	9	75263001	missense	probably damaging	1.00
R3751:Myo5c	UTSW	9	75276002	missense	probably damaging	1.00
R4132:Myo5c	UTSW	9	75252568	missense	probably benign	0.00
R4173:Myo5c	UTSW	9	75246258	missense	probably damaging	1.00
R4239:Myo5c	UTSW	9	75283942	missense	probably benign	0.01
R4429:Myo5c	UTSW	9	75294001	missense	probably damaging	1.00
R4574:Myo5c	UTSW	9	75269611	missense	probably benign	0.00
R4791:Myo5c	UTSW	9	75290916	missense	probably damaging	1.00
R4804:Myo5c	UTSW	9	75245024	missense	probably damaging	1.00
R4819:Myo5c	UTSW	9	75292202	missense	probably damaging	0.97
R4881:Myo5c	UTSW	9	75284152	missense	probably benign	0.00
R4900:Myo5c	UTSW	9	75273543	missense	probably damaging	1.00
R4964:Myo5c	UTSW	9	75297509	missense	possibly damaging	0.51
R4966:Myo5c	UTSW	9	75269596	missense	probably benign	0.03
R5057:Myo5c	UTSW	9	75300873	missense	probably damaging	1.00
R5347:Myo5c	UTSW	9	75295205	missense	probably null	1.00
R5399:Myo5c	UTSW	9	75288074	missense	possibly damaging	0.80
R5440:Myo5c	UTSW	9	75258125	missense	possibly damaging	0.91
R5569:Myo5c	UTSW	9	75273510	missense	probably damaging	1.00
R5600:Myo5c	UTSW	9	75289154	missense	probably benign	0.00
R5606:Myo5c	UTSW	9	75275508	missense	probably damaging	1.00
R5704:Myo5c	UTSW	9	75272903	missense	probably benign	0.00
R5798:Myo5c	UTSW	9	75284198	missense	probably benign	0.04
R5865:Myo5c	UTSW	9	75297488	missense	probably damaging	0.97
R6034:Myo5c	UTSW	9	75255905	missense	probably benign	0.05
R6034:Myo5c	UTSW	9	75255905	missense	probably benign	0.05
R6143:Myo5c	UTSW	9	75249809	missense	probably damaging	1.00
R6242:Myo5c	UTSW	9	75273611	missense	probably benign
R6253:Myo5c	UTSW	9	75245037	missense	probably damaging	1.00
R6264:Myo5c	UTSW	9	75275554	missense	probably benign
R6307:Myo5c	UTSW	9	75272916	missense	possibly damaging	0.73
R6358:Myo5c	UTSW	9	75296012	missense	possibly damaging	0.53
R6450:Myo5c	UTSW	9	75286578	missense	probably benign	0.26
R6598:Myo5c	UTSW	9	75246234	missense	probably damaging	1.00
R6618:Myo5c	UTSW	9	75275637	critical splice donor site	probably null
R6774:Myo5c	UTSW	9	75289186	missense	probably benign	0.05
R6865:Myo5c	UTSW	9	75269596	missense	probably benign	0.03
R6996:Myo5c	UTSW	9	75250464	missense	probably benign	0.01
R7023:Myo5c	UTSW	9	75301456	missense	probably damaging	0.98
R7123:Myo5c	UTSW	9	75289223	missense	probably benign
R7250:Myo5c	UTSW	9	75262215	missense	probably damaging	1.00
R7316:Myo5c	UTSW	9	75269638	missense	probably benign	0.00
R7340:Myo5c	UTSW	9	75289141	missense	probably benign
R7382:Myo5c	UTSW	9	75304050	missense	probably damaging	1.00
R7426:Myo5c	UTSW	9	75251527	splice site	probably null
R7788:Myo5c	UTSW	9	75279345	missense	probably damaging	0.98
R7956:Myo5c	UTSW	9	75252563	missense	probably benign
R8082:Myo5c	UTSW	9	75275511	missense	possibly damaging	0.89
R8290:Myo5c	UTSW	9	75288896	missense	probably benign	0.01
R8406:Myo5c	UTSW	9	75275541	missense	probably damaging	1.00
R8481:Myo5c	UTSW	9	75301444	missense	probably damaging	1.00
R8489:Myo5c	UTSW	9	75272846	missense	probably damaging	0.98
R8505:Myo5c	UTSW	9	75246141	missense	probably damaging	1.00
R8685:Myo5c	UTSW	9	75284947	missense	possibly damaging	0.66
R8806:Myo5c	UTSW	9	75242772	missense	probably damaging	1.00
R8871:Myo5c	UTSW	9	75278303	missense	probably benign	0.10
R9323:Myo5c	UTSW	9	75246249	missense	probably damaging	1.00
R9484:Myo5c	UTSW	9	75297488	missense	probably damaging	0.99
R9639:Myo5c	UTSW	9	75258195	missense	probably damaging	1.00
Z1088:Myo5c	UTSW	9	75245059	missense	probably damaging	1.00
Z1177:Myo5c	UTSW	9	75246255	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCAAGCTATGATGCCCAG -3'
(R):5'- AAGTCACTGGTGTAACCCCAG -3'

Sequencing Primer
(F):5'- CAAGCTATGATGCCCAGGAAATG -3'
(R):5'- TGGTGTAACCCCAGTGCCTC -3'

Posted On

2014-06-23