Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Myh15'

537134

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48877849-49019467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48973474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1248 (N1248S)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168680
AA Change: N1248S

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: N1248S

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: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	Het

Other mutations in Myh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Myh15	APN	16	48,986,176 (GRCm39)	missense	probably damaging	0.98
IGL01095:Myh15	APN	16	48,952,378 (GRCm39)	missense	probably damaging	1.00
IGL01343:Myh15	APN	16	48,976,040 (GRCm39)	missense	probably benign	0.09
IGL01474:Myh15	APN	16	48,952,461 (GRCm39)	missense	probably damaging	1.00
IGL01572:Myh15	APN	16	48,920,585 (GRCm39)	missense	possibly damaging	0.55
IGL01595:Myh15	APN	16	48,993,312 (GRCm39)	missense	probably damaging	1.00
IGL01632:Myh15	APN	16	48,881,874 (GRCm39)	missense	probably benign	0.00
IGL01638:Myh15	APN	16	48,889,843 (GRCm39)	missense	probably damaging	1.00
IGL01667:Myh15	APN	16	49,015,942 (GRCm39)	missense	probably benign	0.20
IGL01715:Myh15	APN	16	48,877,847 (GRCm39)	unclassified	probably benign
IGL01833:Myh15	APN	16	48,934,421 (GRCm39)	missense	probably damaging	1.00
IGL02004:Myh15	APN	16	48,930,892 (GRCm39)	splice site	probably benign
IGL02033:Myh15	APN	16	48,965,707 (GRCm39)	missense	probably benign	0.05
IGL02148:Myh15	APN	16	48,936,678 (GRCm39)	missense	probably damaging	1.00
IGL02225:Myh15	APN	16	48,911,526 (GRCm39)	missense	probably benign	0.14
IGL02249:Myh15	APN	16	48,930,847 (GRCm39)	missense	probably damaging	0.99
IGL02505:Myh15	APN	16	48,937,626 (GRCm39)	missense	possibly damaging	0.90
IGL02622:Myh15	APN	16	48,997,317 (GRCm39)	missense	probably benign	0.02
IGL02814:Myh15	APN	16	48,965,801 (GRCm39)	splice site	probably benign
IGL02869:Myh15	APN	16	48,965,767 (GRCm39)	missense	probably benign
IGL02879:Myh15	APN	16	48,993,422 (GRCm39)	missense	possibly damaging	0.68
IGL02881:Myh15	APN	16	48,937,628 (GRCm39)	missense	possibly damaging	0.51
IGL03077:Myh15	APN	16	48,916,901 (GRCm39)	missense	probably benign	0.10
IGL03354:Myh15	APN	16	48,992,373 (GRCm39)	missense	probably benign	0.01
IGL03411:Myh15	APN	16	48,980,330 (GRCm39)	missense	possibly damaging	0.58
ANU74:Myh15	UTSW	16	48,993,295 (GRCm39)	missense	possibly damaging	0.58
P0027:Myh15	UTSW	16	48,901,571 (GRCm39)	missense	possibly damaging	0.77
PIT1430001:Myh15	UTSW	16	49,017,254 (GRCm39)	critical splice donor site	probably null
R0017:Myh15	UTSW	16	48,983,423 (GRCm39)	missense	probably damaging	0.97
R0038:Myh15	UTSW	16	48,891,504 (GRCm39)	splice site	probably benign
R0149:Myh15	UTSW	16	48,934,368 (GRCm39)	missense	probably benign	0.01
R0361:Myh15	UTSW	16	48,934,368 (GRCm39)	missense	probably benign	0.01
R0373:Myh15	UTSW	16	49,003,322 (GRCm39)	missense	possibly damaging	0.86
R0433:Myh15	UTSW	16	48,965,599 (GRCm39)	missense	probably damaging	1.00
R0525:Myh15	UTSW	16	48,952,414 (GRCm39)	missense	probably benign	0.03
R0586:Myh15	UTSW	16	48,992,250 (GRCm39)	splice site	probably benign
R0601:Myh15	UTSW	16	48,881,944 (GRCm39)	missense	probably damaging	1.00
R0717:Myh15	UTSW	16	48,963,356 (GRCm39)	missense	probably benign	0.03
R0963:Myh15	UTSW	16	48,952,512 (GRCm39)	missense	probably damaging	0.97
R1075:Myh15	UTSW	16	48,940,417 (GRCm39)	missense	possibly damaging	0.63
R1143:Myh15	UTSW	16	48,885,449 (GRCm39)	missense	probably benign	0.02
R1200:Myh15	UTSW	16	48,916,882 (GRCm39)	missense	probably damaging	1.00
R1644:Myh15	UTSW	16	48,952,566 (GRCm39)	missense	probably benign	0.12
R1646:Myh15	UTSW	16	49,015,931 (GRCm39)	missense	probably damaging	1.00
R1720:Myh15	UTSW	16	48,913,145 (GRCm39)	missense	probably damaging	1.00
R1768:Myh15	UTSW	16	48,983,498 (GRCm39)	missense	probably benign	0.27
R1881:Myh15	UTSW	16	48,891,446 (GRCm39)	missense	probably damaging	0.98
R2048:Myh15	UTSW	16	48,975,928 (GRCm39)	missense	probably damaging	0.99
R2064:Myh15	UTSW	16	48,975,984 (GRCm39)	missense	possibly damaging	0.50
R2184:Myh15	UTSW	16	48,957,874 (GRCm39)	missense	probably damaging	0.99
R2212:Myh15	UTSW	16	48,959,095 (GRCm39)	missense	probably benign	0.02
R2216:Myh15	UTSW	16	48,986,201 (GRCm39)	nonsense	probably null
R2321:Myh15	UTSW	16	48,933,436 (GRCm39)	missense	possibly damaging	0.93
R2327:Myh15	UTSW	16	48,963,313 (GRCm39)	missense	probably benign	0.01
R2395:Myh15	UTSW	16	48,889,877 (GRCm39)	missense	probably benign	0.04
R2399:Myh15	UTSW	16	48,957,952 (GRCm39)	missense	probably damaging	0.97
R3413:Myh15	UTSW	16	48,959,095 (GRCm39)	missense	probably benign	0.02
R4234:Myh15	UTSW	16	48,983,405 (GRCm39)	missense	probably benign	0.04
R4382:Myh15	UTSW	16	48,963,306 (GRCm39)	missense	probably benign	0.03
R4421:Myh15	UTSW	16	48,929,707 (GRCm39)	missense	probably damaging	0.99
R4580:Myh15	UTSW	16	48,885,388 (GRCm39)	missense	possibly damaging	0.93
R4657:Myh15	UTSW	16	48,992,421 (GRCm39)	nonsense	probably null
R4780:Myh15	UTSW	16	48,940,420 (GRCm39)	missense	probably benign	0.13
R5004:Myh15	UTSW	16	48,952,411 (GRCm39)	missense	probably damaging	0.99
R5175:Myh15	UTSW	16	48,889,789 (GRCm39)	missense	possibly damaging	0.85
R5189:Myh15	UTSW	16	48,921,870 (GRCm39)	missense	probably benign	0.20
R5311:Myh15	UTSW	16	48,986,204 (GRCm39)	missense	possibly damaging	0.94
R5318:Myh15	UTSW	16	48,930,834 (GRCm39)	missense	probably damaging	0.99
R5404:Myh15	UTSW	16	48,980,341 (GRCm39)	missense	probably benign	0.15
R5415:Myh15	UTSW	16	48,937,658 (GRCm39)	missense	probably null	1.00
R5558:Myh15	UTSW	16	48,889,900 (GRCm39)	missense	probably benign	0.32
R5977:Myh15	UTSW	16	48,973,866 (GRCm39)	missense	probably damaging	1.00
R6004:Myh15	UTSW	16	48,980,062 (GRCm39)	missense	probably benign	0.00
R6275:Myh15	UTSW	16	48,965,610 (GRCm39)	missense	probably benign	0.00
R6381:Myh15	UTSW	16	48,921,844 (GRCm39)	missense	probably damaging	1.00
R6448:Myh15	UTSW	16	48,992,295 (GRCm39)	missense	probably damaging	0.99
R6516:Myh15	UTSW	16	48,957,996 (GRCm39)	missense	probably benign	0.19
R6752:Myh15	UTSW	16	49,003,290 (GRCm39)	missense	probably damaging	1.00
R6847:Myh15	UTSW	16	48,965,451 (GRCm39)	missense	possibly damaging	0.70
R6868:Myh15	UTSW	16	48,889,766 (GRCm39)	missense	probably damaging	1.00
R6896:Myh15	UTSW	16	48,933,434 (GRCm39)	missense	probably benign	0.44
R6955:Myh15	UTSW	16	48,901,598 (GRCm39)	critical splice donor site	probably null
R6984:Myh15	UTSW	16	48,930,775 (GRCm39)	missense	probably damaging	1.00
R7046:Myh15	UTSW	16	48,929,662 (GRCm39)	nonsense	probably null
R7095:Myh15	UTSW	16	48,992,272 (GRCm39)	missense	possibly damaging	0.90
R7098:Myh15	UTSW	16	48,997,420 (GRCm39)	missense	possibly damaging	0.53
R7134:Myh15	UTSW	16	48,901,705 (GRCm39)	missense	possibly damaging	0.86
R7159:Myh15	UTSW	16	48,881,937 (GRCm39)	missense	probably damaging	0.97
R7244:Myh15	UTSW	16	49,017,149 (GRCm39)	missense	probably damaging	1.00
R7278:Myh15	UTSW	16	48,911,468 (GRCm39)	missense	probably damaging	0.98
R7309:Myh15	UTSW	16	48,916,828 (GRCm39)	missense	probably benign	0.34
R7327:Myh15	UTSW	16	48,993,369 (GRCm39)	missense	possibly damaging	0.88
R7418:Myh15	UTSW	16	48,975,900 (GRCm39)	missense	possibly damaging	0.69
R7937:Myh15	UTSW	16	48,976,009 (GRCm39)	missense	probably benign	0.00
R8053:Myh15	UTSW	16	48,963,302 (GRCm39)	missense	possibly damaging	0.89
R8313:Myh15	UTSW	16	48,940,381 (GRCm39)	missense	probably damaging	0.99
R8315:Myh15	UTSW	16	48,940,381 (GRCm39)	missense	probably damaging	0.99
R8316:Myh15	UTSW	16	48,940,381 (GRCm39)	missense	probably damaging	0.99
R8317:Myh15	UTSW	16	48,940,381 (GRCm39)	missense	probably damaging	0.99
R8342:Myh15	UTSW	16	48,913,120 (GRCm39)	missense	probably benign
R8379:Myh15	UTSW	16	48,901,551 (GRCm39)	missense	probably benign
R8445:Myh15	UTSW	16	48,940,381 (GRCm39)	missense	probably damaging	0.99
R8707:Myh15	UTSW	16	48,973,450 (GRCm39)	missense	probably damaging	1.00
R8729:Myh15	UTSW	16	48,881,851 (GRCm39)	missense	probably damaging	0.97
R8773:Myh15	UTSW	16	49,015,900 (GRCm39)	missense	possibly damaging	0.89
R8869:Myh15	UTSW	16	48,997,366 (GRCm39)	missense	probably benign
R8890:Myh15	UTSW	16	48,959,130 (GRCm39)	missense	probably damaging	1.00
R9026:Myh15	UTSW	16	49,007,433 (GRCm39)	missense	probably damaging	1.00
R9063:Myh15	UTSW	16	48,913,118 (GRCm39)	missense	probably benign	0.00
R9290:Myh15	UTSW	16	48,997,375 (GRCm39)	missense	probably damaging	1.00
R9630:Myh15	UTSW	16	48,980,341 (GRCm39)	missense	probably benign	0.15
R9710:Myh15	UTSW	16	48,959,044 (GRCm39)	missense	probably damaging	1.00
X0012:Myh15	UTSW	16	48,963,341 (GRCm39)	missense	probably damaging	1.00
X0020:Myh15	UTSW	16	48,986,237 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh15	UTSW	16	48,916,894 (GRCm39)	missense	probably damaging	0.98
Z1177:Myh15	UTSW	16	48,980,189 (GRCm39)	missense	probably benign	0.09
Z1177:Myh15	UTSW	16	48,975,981 (GRCm39)	missense	probably damaging	0.97
Z1177:Myh15	UTSW	16	48,901,591 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTGTCGTCTTTACTCCAGAAG -3'
(R):5'- TTTGGAGAACACCCAAGAGC -3'

Sequencing Primer
(F):5'- GTCGTCTTTACTCCAGAAGCAGAAG -3'
(R):5'- AGACAATGAGCCTTTCCCTG -3'

Posted On

2018-10-18