Mutagenetix > Incidental Mutations

Incidental Mutation 'R5399:Myo5c'

429876

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

042970-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5399 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75288074 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1218 (I1218T)

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036555
AA Change: I1218T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590
AA Change: I1218T

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	T	2: 152,440,868	L214F	probably damaging	Het
Abcb1b	T	C	5: 8,827,410	S657P	probably benign	Het
Abcb5	T	A	12: 118,911,499	Y646F	probably benign	Het
Agl	A	T	3: 116,781,628	L620Q	probably damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Arhgap23	A	G	11: 97,500,917	N1420S	probably damaging	Het
Arntl2	T	G	6: 146,822,661	D350E	probably damaging	Het
Barx2	A	G	9: 31,854,111		probably null	Het
Birc6	C	A	17: 74,604,578	S28R	possibly damaging	Het
Btbd19	G	A	4: 117,123,760	A104V	probably damaging	Het
Casp4	A	T	9: 5,324,928	K247*	probably null	Het
Clk4	T	C	11: 51,275,257	Y17H	probably damaging	Het
Cntnap1	A	G	11: 101,183,316	Q722R	probably benign	Het
Col6a6	A	G	9: 105,709,107	V1905A	possibly damaging	Het
Csmd1	C	A	8: 16,710,597	G174V	probably damaging	Het
Cul1	T	A	6: 47,485,084		probably null	Het
Cux1	T	C	5: 136,252,604	E568G	possibly damaging	Het
Dnaaf2	A	G	12: 69,196,742	I515T	probably damaging	Het
Fbn1	T	C	2: 125,332,333	I1868V	possibly damaging	Het
Fcgbp	G	T	7: 28,105,055	V1863L	probably benign	Het
G2e3	T	C	12: 51,357,194		probably null	Het
Gabrr2	T	C	4: 33,071,458		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gbgt1	C	T	2: 28,503,218	P106L	probably damaging	Het
Gm13023	T	C	4: 143,795,032	F406S	probably benign	Het
Gm6657	A	C	12: 78,197,453	N60T	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Golga3	A	G	5: 110,205,024	E927G	probably damaging	Het
Hfm1	T	A	5: 106,917,562	I84F	possibly damaging	Het
Htt	G	T	5: 34,877,151	D1989Y	probably damaging	Het
Ihh	C	T	1: 74,946,277	A350T	probably benign	Het
Irx4	G	C	13: 73,265,539	A43P	probably benign	Het
Itk	A	G	11: 46,338,111	V414A	probably benign	Het
Itsn2	A	T	12: 4,653,535	I744L	probably benign	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Kif14	A	G	1: 136,503,324	D1153G	probably benign	Het
Morc3	A	G	16: 93,862,539		probably null	Het
Msc	A	T	1: 14,755,556	C65S	probably benign	Het
Mybpc1	A	G	10: 88,523,014	V343A	probably damaging	Het
Mypn	C	T	10: 63,120,186	V1163I	probably benign	Het
Obox3	A	T	7: 15,626,288	M152K	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1204	T	A	2: 88,852,655	L235H	probably damaging	Het
Olfr1264	T	A	2: 90,021,923	T48S	probably benign	Het
Olfr328	A	G	11: 58,552,143	V32A	probably benign	Het
Pcdhb21	G	T	18: 37,515,719	V634L	probably benign	Het
Ppp1r9b	G	A	11: 94,992,148	A201T	probably benign	Het
Prss23	A	T	7: 89,509,966	D298E	probably benign	Het
Rab4b	A	T	7: 27,176,162	N31K	probably benign	Het
Ros1	A	G	10: 52,090,944		probably null	Het
Rragb	G	A	X: 153,140,554	G24E	probably damaging	Het
Rtl1	A	T	12: 109,590,302	L1701Q	probably damaging	Het
Sbno1	T	A	5: 124,392,741	N831Y	probably benign	Het
Selp	A	G	1: 164,126,586	K152E	possibly damaging	Het
Sema4b	A	G	7: 80,224,886	T675A	probably benign	Het
Slc36a3	T	C	11: 55,146,180	I100V	possibly damaging	Het
Slco1a4	T	A	6: 141,830,707	I196F	probably damaging	Het
Spata13	G	A	14: 60,747,541	S828N	probably benign	Het
Stard13	A	T	5: 151,047,801	Y643*	probably null	Het
Tll1	T	C	8: 64,085,488	H374R	probably damaging	Het
Trmt10a	T	A	3: 138,147,504	I42K	probably damaging	Het
Trmu	A	T	15: 85,896,408		probably null	Het
Trp53	T	A	11: 69,588,546	D183E	probably benign	Het
Ttc22	T	G	4: 106,636,757	F305V	probably damaging	Het
Unc13c	A	G	9: 73,749,688	F1077S	possibly damaging	Het
Utrn	T	A	10: 12,640,983	Q2289L	probably damaging	Het
Vmn1r65	C	A	7: 6,008,810	E142*	probably null	Het
Vmn2r63	A	T	7: 42,928,277	V279D	probably benign	Het
Zfp810	G	A	9: 22,278,829	T261I	possibly damaging	Het
Zkscan17	A	G	11: 59,502,918		probably null	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
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
R1838:Myo5c	UTSW	9	75273553	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
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
R7788:Myo5c	UTSW	9	75279345	missense	probably damaging	0.98
Z1088:Myo5c	UTSW	9	75245059	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGGATTTCTTGAGACCA -3'
(R):5'- GGCTCTAATTTGGGGTTGCC -3'

Sequencing Primer
(F):5'- GGATTTCTTGAGACCACTACAAAGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2016-09-06