Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Myh15'

536049

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49057486-49199104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49069403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 119 (C119Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168680]

AlphaFold

E9Q264

Predicted Effect

probably damaging
Transcript: ENSMUST00000168680
AA Change: C119Y

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

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: C119Y

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	30	70	5.2e-12	PFAM
MYSc	76	770	N/A	SMART
Pfam:Myosin_tail_1	836	1915	9.5e-118	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,695	N204I	probably damaging	Het
Aasdh	C	T	5: 76,891,680	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,773,476	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,769	L87P	probably damaging	Het
Alcam	G	A	16: 52,268,385	S554F	probably damaging	Het
Ambra1	T	C	2: 91,917,533	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,534,760	V150G	unknown	Het
C3	T	C	17: 57,204,029	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,092,694	R823Q	probably benign	Het
Cdk4	T	C	10: 127,065,001	V174A	probably benign	Het
Ces2h	T	A	8: 105,018,423	N396K	probably benign	Het
Chd7	T	C	4: 8,811,501		probably null	Het
Cnih4	A	G	1: 181,166,197	I76V	probably null	Het
Csmd2	G	A	4: 128,442,840	V1404I	probably benign	Het
Ctrb1	T	C	8: 111,689,403	D53G	probably benign	Het
Cul9	C	A	17: 46,522,183	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,763,503	V1230A	possibly damaging	Het
Dgat2	T	C	7: 99,158,306	D219G	probably benign	Het
Dgkh	T	C	14: 78,624,853	T225A	probably damaging	Het
Dock9	G	T	14: 121,586,264	A1412E	probably benign	Het
Dscam	C	T	16: 96,829,940	V292M	probably damaging	Het
Fam183b	C	T	11: 58,792,906	D113N	probably damaging	Het
Fras1	T	A	5: 96,682,378	V1509E	probably benign	Het
Fryl	T	C	5: 73,068,803	Q1839R	probably damaging	Het
Gcat	A	G	15: 79,035,366	D177G	probably damaging	Het
Gss	T	C	2: 155,567,812	T235A	possibly damaging	Het
Ints10	T	A	8: 68,797,798	M114K	probably damaging	Het
Ints5	T	G	19: 8,897,386	L903R	probably damaging	Het
Lipo2	G	T	19: 33,748,462	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,680,309	C494Y	probably damaging	Het
Milr1	T	C	11: 106,763,921	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,328,418	I278N	probably damaging	Het
Mst1r	T	A	9: 107,915,933		probably null	Het
Nap1l1	G	A	10: 111,494,808	G358D	probably damaging	Het
Nav3	T	C	10: 109,693,166	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 26,841,294	E21G	probably damaging	Het
Nos2	C	T	11: 78,957,506	R967C	probably benign	Het
Olfr811	T	C	10: 129,802,168	D119G	probably damaging	Het
Parp10	T	C	15: 76,243,106	R44G	probably damaging	Het
Pced1b	A	G	15: 97,384,341	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,353,612	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,438	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,590,852	L449P	probably damaging	Het
Prkd1	T	C	12: 50,425,537	R198G	probably damaging	Het
Pth2r	C	A	1: 65,388,479	A437E	probably benign	Het
Ptprh	A	T	7: 4,601,865	I60N	probably benign	Het
Pxmp2	C	T	5: 110,285,980	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,485,309	K55E	probably benign	Het
Slc18b1	T	C	10: 23,804,234	V109A	possibly damaging	Het
Slx4ip	T	A	2: 137,000,210	D18E	probably damaging	Het
Stk40	A	G	4: 126,123,814	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,084,306	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,657,650		probably null	Het
Tmc6	T	A	11: 117,774,317	I377F	probably benign	Het
Tmem131l	T	C	3: 83,961,631	I146V	probably damaging	Het
Trac	T	A	14: 54,220,592		probably benign	Het
Trpm7	T	C	2: 126,837,414	D409G	probably damaging	Het
Usp39	A	T	6: 72,337,751	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 26,267,302	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,545,218	I33L	probably benign	Het

Other mutations in Myh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Myh15	APN	16	49165813	missense	probably damaging	0.98
IGL01095:Myh15	APN	16	49132015	missense	probably damaging	1.00
IGL01343:Myh15	APN	16	49155677	missense	probably benign	0.09
IGL01474:Myh15	APN	16	49132098	missense	probably damaging	1.00
IGL01572:Myh15	APN	16	49100222	missense	possibly damaging	0.55
IGL01595:Myh15	APN	16	49172949	missense	probably damaging	1.00
IGL01632:Myh15	APN	16	49061511	missense	probably benign	0.00
IGL01638:Myh15	APN	16	49069480	missense	probably damaging	1.00
IGL01667:Myh15	APN	16	49195579	missense	probably benign	0.20
IGL01715:Myh15	APN	16	49057484	unclassified	probably benign
IGL01833:Myh15	APN	16	49114058	missense	probably damaging	1.00
IGL02004:Myh15	APN	16	49110529	splice site	probably benign
IGL02033:Myh15	APN	16	49145344	missense	probably benign	0.05
IGL02148:Myh15	APN	16	49116315	missense	probably damaging	1.00
IGL02225:Myh15	APN	16	49091163	missense	probably benign	0.14
IGL02249:Myh15	APN	16	49110484	missense	probably damaging	0.99
IGL02505:Myh15	APN	16	49117263	missense	possibly damaging	0.90
IGL02622:Myh15	APN	16	49176954	missense	probably benign	0.02
IGL02814:Myh15	APN	16	49145438	splice site	probably benign
IGL02869:Myh15	APN	16	49145404	missense	probably benign
IGL02879:Myh15	APN	16	49173059	missense	possibly damaging	0.68
IGL02881:Myh15	APN	16	49117265	missense	possibly damaging	0.51
IGL03077:Myh15	APN	16	49096538	missense	probably benign	0.10
IGL03354:Myh15	APN	16	49172010	missense	probably benign	0.01
IGL03411:Myh15	APN	16	49159967	missense	possibly damaging	0.58
ANU74:Myh15	UTSW	16	49172932	missense	possibly damaging	0.58
P0027:Myh15	UTSW	16	49081208	missense	possibly damaging	0.77
PIT1430001:Myh15	UTSW	16	49196891	critical splice donor site	probably null
R0017:Myh15	UTSW	16	49163060	missense	probably damaging	0.97
R0038:Myh15	UTSW	16	49071141	splice site	probably benign
R0149:Myh15	UTSW	16	49114005	missense	probably benign	0.01
R0361:Myh15	UTSW	16	49114005	missense	probably benign	0.01
R0373:Myh15	UTSW	16	49182959	missense	possibly damaging	0.86
R0433:Myh15	UTSW	16	49145236	missense	probably damaging	1.00
R0525:Myh15	UTSW	16	49132051	missense	probably benign	0.03
R0586:Myh15	UTSW	16	49171887	splice site	probably benign
R0601:Myh15	UTSW	16	49061581	missense	probably damaging	1.00
R0717:Myh15	UTSW	16	49142993	missense	probably benign	0.03
R0963:Myh15	UTSW	16	49132149	missense	probably damaging	0.97
R1075:Myh15	UTSW	16	49120054	missense	possibly damaging	0.63
R1143:Myh15	UTSW	16	49065086	missense	probably benign	0.02
R1200:Myh15	UTSW	16	49096519	missense	probably damaging	1.00
R1644:Myh15	UTSW	16	49132203	missense	probably benign	0.12
R1646:Myh15	UTSW	16	49195568	missense	probably damaging	1.00
R1720:Myh15	UTSW	16	49092782	missense	probably damaging	1.00
R1768:Myh15	UTSW	16	49163135	missense	probably benign	0.27
R1881:Myh15	UTSW	16	49071083	missense	probably damaging	0.98
R2048:Myh15	UTSW	16	49155565	missense	probably damaging	0.99
R2064:Myh15	UTSW	16	49155621	missense	possibly damaging	0.50
R2184:Myh15	UTSW	16	49137511	missense	probably damaging	0.99
R2212:Myh15	UTSW	16	49138732	missense	probably benign	0.02
R2216:Myh15	UTSW	16	49165838	nonsense	probably null
R2321:Myh15	UTSW	16	49113073	missense	possibly damaging	0.93
R2327:Myh15	UTSW	16	49142950	missense	probably benign	0.01
R2395:Myh15	UTSW	16	49069514	missense	probably benign	0.04
R2399:Myh15	UTSW	16	49137589	missense	probably damaging	0.97
R3413:Myh15	UTSW	16	49138732	missense	probably benign	0.02
R4234:Myh15	UTSW	16	49163042	missense	probably benign	0.04
R4382:Myh15	UTSW	16	49142943	missense	probably benign	0.03
R4421:Myh15	UTSW	16	49109344	missense	probably damaging	0.99
R4580:Myh15	UTSW	16	49065025	missense	possibly damaging	0.93
R4657:Myh15	UTSW	16	49172058	nonsense	probably null
R4780:Myh15	UTSW	16	49120057	missense	probably benign	0.13
R5004:Myh15	UTSW	16	49132048	missense	probably damaging	0.99
R5175:Myh15	UTSW	16	49069426	missense	possibly damaging	0.85
R5189:Myh15	UTSW	16	49101507	missense	probably benign	0.20
R5311:Myh15	UTSW	16	49165841	missense	possibly damaging	0.94
R5318:Myh15	UTSW	16	49110471	missense	probably damaging	0.99
R5404:Myh15	UTSW	16	49159978	missense	probably benign	0.15
R5415:Myh15	UTSW	16	49117295	missense	probably null	1.00
R5558:Myh15	UTSW	16	49069537	missense	probably benign	0.32
R5977:Myh15	UTSW	16	49153503	missense	probably damaging	1.00
R6004:Myh15	UTSW	16	49159699	missense	probably benign	0.00
R6275:Myh15	UTSW	16	49145247	missense	probably benign	0.00
R6381:Myh15	UTSW	16	49101481	missense	probably damaging	1.00
R6448:Myh15	UTSW	16	49171932	missense	probably damaging	0.99
R6516:Myh15	UTSW	16	49137633	missense	probably benign	0.19
R6752:Myh15	UTSW	16	49182927	missense	probably damaging	1.00
R6847:Myh15	UTSW	16	49145088	missense	possibly damaging	0.70
R6889:Myh15	UTSW	16	49153111	missense	possibly damaging	0.75
R6896:Myh15	UTSW	16	49113071	missense	probably benign	0.44
R6955:Myh15	UTSW	16	49081235	critical splice donor site	probably null
R6984:Myh15	UTSW	16	49110412	missense	probably damaging	1.00
R7046:Myh15	UTSW	16	49109299	nonsense	probably null
R7095:Myh15	UTSW	16	49171909	missense	possibly damaging	0.90
R7098:Myh15	UTSW	16	49177057	missense	possibly damaging	0.53
R7134:Myh15	UTSW	16	49081342	missense	possibly damaging	0.86
R7159:Myh15	UTSW	16	49061574	missense	probably damaging	0.97
R7244:Myh15	UTSW	16	49196786	missense	probably damaging	1.00
R7278:Myh15	UTSW	16	49091105	missense	probably damaging	0.98
R7309:Myh15	UTSW	16	49096465	missense	probably benign	0.34
R7327:Myh15	UTSW	16	49173006	missense	possibly damaging	0.88
R7418:Myh15	UTSW	16	49155537	missense	possibly damaging	0.69
R7937:Myh15	UTSW	16	49155646	missense	probably benign	0.00
R8053:Myh15	UTSW	16	49142939	missense	possibly damaging	0.89
R8313:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8315:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8316:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8317:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8342:Myh15	UTSW	16	49092757	missense	probably benign
R8379:Myh15	UTSW	16	49081188	missense	probably benign
R8445:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8707:Myh15	UTSW	16	49153087	missense	probably damaging	1.00
R8729:Myh15	UTSW	16	49061488	missense	probably damaging	0.97
R8773:Myh15	UTSW	16	49195537	missense	possibly damaging	0.89
R8869:Myh15	UTSW	16	49177003	missense	probably benign
R8890:Myh15	UTSW	16	49138767	missense	probably damaging	1.00
R9026:Myh15	UTSW	16	49187070	missense	probably damaging	1.00
R9063:Myh15	UTSW	16	49092755	missense	probably benign	0.00
R9290:Myh15	UTSW	16	49177012	missense	probably damaging	1.00
R9630:Myh15	UTSW	16	49159978	missense	probably benign	0.15
R9710:Myh15	UTSW	16	49138681	missense	probably damaging	1.00
X0012:Myh15	UTSW	16	49142978	missense	probably damaging	1.00
X0020:Myh15	UTSW	16	49165874	missense	probably damaging	1.00
Z1176:Myh15	UTSW	16	49096531	missense	probably damaging	0.98
Z1177:Myh15	UTSW	16	49081228	missense	probably benign	0.02
Z1177:Myh15	UTSW	16	49155618	missense	probably damaging	0.97
Z1177:Myh15	UTSW	16	49159826	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCCAGATCTGTTGGCTTCTG -3'
(R):5'- TCCTTCAGTGACATGGAGAAAAC -3'

Sequencing Primer
(F):5'- CTGTTGGCTTCTGTTAGAAATCAC -3'
(R):5'- AACTTGGATCAGAGATTCTCCC -3'

Posted On

2018-10-18