Mutagenetix > Incidental Mutations

Incidental Mutation 'R6618:Myo5c'

524214

Institutional Source

Beutler Lab

Gene Symbol

Myo5c

Ensembl Gene

ENSMUSG00000033590

Gene Name

myosin VC

Synonyms

9130003O20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75232020-75305451 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 75275637 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042229 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000036555

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590

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 null
Transcript: ENSMUST00000036555

SMART Domains

Protein: ENSMUSP00000042229
Gene: ENSMUSG00000033590

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

Meta Mutation Damage Score

0.9473

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,603,463	D68G	probably damaging	Het
Barx2	G	A	9: 31,846,872	L257F	probably benign	Het
Bbx	C	G	16: 50,266,263	W90S	probably damaging	Het
Bmp1	T	A	14: 70,491,368	D588V	probably damaging	Het
Caskin2	C	T	11: 115,800,029	M1188I	possibly damaging	Het
Ccdc180	T	A	4: 45,950,708	I1651N	probably damaging	Het
Cr2	T	C	1: 195,157,379	D580G	probably damaging	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Fam166a	C	A	2: 25,220,623	L148M	probably benign	Het
Fam204a	T	C	19: 60,220,637		probably null	Het
Fam71b	A	G	11: 46,407,299	T477A	probably damaging	Het
Fam83h	T	C	15: 76,003,511	D659G	probably damaging	Het
Hells	G	T	19: 38,957,084	R589L	probably benign	Het
Helz	A	G	11: 107,599,150	T144A	probably benign	Het
Il1r1	T	A	1: 40,300,811	V258D	probably damaging	Het
Isoc2a	A	T	7: 4,895,326	I183F	probably benign	Het
Kat2a	G	T	11: 100,712,370		probably benign	Het
Klf9	A	G	19: 23,164,871	M232V	probably benign	Het
Lars	G	T	18: 42,244,908	S147R	possibly damaging	Het
Mfsd7a	G	T	5: 108,443,098	T400K	probably benign	Het
Mkrn3	A	G	7: 62,419,033	F337L	probably benign	Het
Mrc2	A	T	11: 105,349,882	N1466I	probably damaging	Het
Pigs	T	C	11: 78,341,230	L396P	probably damaging	Het
Prkcb	G	A	7: 122,627,663	R624Q	probably benign	Het
R3hdm1	T	C	1: 128,193,565	S269P	probably benign	Het
Racgap1	A	T	15: 99,623,994	I505K	probably damaging	Het
Ralgds	T	A	2: 28,550,511	D777E	probably benign	Het
Rdh14	A	G	12: 10,395,123	I325V	probably benign	Het
Rpn2	T	A	2: 157,321,861	H624Q	probably benign	Het
Scarb1	C	T	5: 125,304,330	S50N	probably damaging	Het
Shmt1	T	C	11: 60,792,946		probably null	Het
Smim24	A	G	10: 81,394,132	N27S	possibly damaging	Het
Snx13	A	G	12: 35,112,445	D550G	probably damaging	Het
Tnfsf18	T	A	1: 161,494,780	L23*	probably null	Het
Trpc3	T	A	3: 36,640,695	K703N	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Zfy2	A	G	Y: 2,121,477	S139P	probably benign	Homo

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
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
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
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
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'- TGCCATCTCTTCACCCAAGG -3'
(R):5'- CAGGTCCTTCATCACTGGGAAAG -3'

Sequencing Primer
(F):5'- TCTCTTCACCCAAGGAAGGC -3'
(R):5'- TTCATCACTGGGAAAGCCAGC -3'

Posted On

2018-06-22