Mutagenetix > Incidental Mutation

Incidental Mutation 'R5175:Myh15'

399215

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

042755-MU

Accession Numbers

Essential gene?

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

Stock #

R5175 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48877849-49019467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48889789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 127 (W127G)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168680
AA Change: W127G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: W127G

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr2	A	C	11: 20,030,114 (GRCm39)	M215R	probably benign	Het
Ago2	A	T	15: 72,996,067 (GRCm39)	I354K	possibly damaging	Het
Angel2	T	A	1: 190,673,081 (GRCm39)	C72*	probably null	Het
Ank2	T	A	3: 126,797,673 (GRCm39)	H679L	probably damaging	Het
Anks1	A	T	17: 28,261,562 (GRCm39)	Q694L	probably damaging	Het
Aox3	C	T	1: 58,211,487 (GRCm39)	P1015S	probably benign	Het
Arhgap35	C	A	7: 16,296,524 (GRCm39)	R847L	probably damaging	Het
Bag4	C	A	8: 26,258,379 (GRCm39)	C316F	probably damaging	Het
Camkv	T	A	9: 107,824,581 (GRCm39)	I258N	probably damaging	Het
Cpt1c	G	A	7: 44,620,781 (GRCm39)	A28V	probably damaging	Het
Cyp2j13	A	T	4: 95,956,452 (GRCm39)	M219K	possibly damaging	Het
Dclk1	G	T	3: 55,154,648 (GRCm39)	R26L	possibly damaging	Het
Diras2	A	T	13: 52,662,007 (GRCm39)	I100N	probably damaging	Het
Dnah5	T	A	15: 28,448,550 (GRCm39)	N4204K	probably damaging	Het
Dnase1l3	T	A	14: 7,987,386 (GRCm38)	K55*	probably null	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Eif5b	A	G	1: 38,084,468 (GRCm39)	T819A	probably damaging	Het
Elfn2	A	T	15: 78,558,073 (GRCm39)	L158H	probably damaging	Het
Erp44	T	C	4: 48,196,823 (GRCm39)	T367A	probably benign	Het
Fasn	A	T	11: 120,707,195 (GRCm39)	D843E	probably benign	Het
Fbxw25	T	C	9: 109,493,631 (GRCm39)	Y20C	probably damaging	Het
Fer1l6	G	A	15: 58,422,126 (GRCm39)	G108E	probably damaging	Het
Fndc7	C	T	3: 108,776,482 (GRCm39)	V520I	probably benign	Het
Gm17019	A	G	5: 15,082,817 (GRCm39)	W46R	possibly damaging	Het
Gorab	G	T	1: 163,214,214 (GRCm39)	Q239K	probably damaging	Het
Gsdma2	A	G	11: 98,543,438 (GRCm39)	T76A	probably benign	Het
Hnrnpll	A	C	17: 80,341,499 (GRCm39)	C513W	possibly damaging	Het
Ifrd2	T	C	9: 107,467,824 (GRCm39)	L170P	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	A	G	14: 23,386,106 (GRCm39)		probably null	Het
Kcnn3	T	C	3: 89,516,746 (GRCm39)	F385S	probably damaging	Het
Kif18a	T	G	2: 109,133,323 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,741,547 (GRCm39)	K559R	probably damaging	Het
Lrrc8a	T	C	2: 30,145,524 (GRCm39)	C113R	probably damaging	Het
Mgat5	A	G	1: 127,387,649 (GRCm39)	N535S	probably damaging	Het
Npsr1	A	G	9: 24,046,111 (GRCm39)	R77G	probably benign	Het
Nub1	T	A	5: 24,907,446 (GRCm39)	S376R	probably benign	Het
Or14c44	T	C	7: 86,062,254 (GRCm39)	V228A	probably benign	Het
Or4d10c	G	A	19: 12,065,926 (GRCm39)	P77S	probably damaging	Het
Or4k47	A	T	2: 111,451,771 (GRCm39)	I216N	possibly damaging	Het
Or5al6	T	C	2: 85,976,301 (GRCm39)	Y259C	probably damaging	Het
Or9i2	G	A	19: 13,815,680 (GRCm39)	P286S	probably damaging	Het
Pcdh9	A	G	14: 94,125,879 (GRCm39)	L97P	probably damaging	Het
Pkn2	A	G	3: 142,504,684 (GRCm39)	Y831H	probably damaging	Het
Plcz1	T	G	6: 139,985,389 (GRCm39)	I51L	possibly damaging	Het
Plekhg1	T	C	10: 3,915,516 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,777,713 (GRCm39)	S124T	probably benign	Het
Prkag1	A	C	15: 98,713,596 (GRCm39)	V33G	possibly damaging	Het
Rab25	T	A	3: 88,450,728 (GRCm39)	Y57F	possibly damaging	Het
Rb1cc1	A	G	1: 6,318,545 (GRCm39)	I638V	probably benign	Het
Rest	C	A	5: 77,416,219 (GRCm39)	D144E	probably damaging	Het
Rpa2	A	G	4: 132,505,151 (GRCm39)	D260G	probably damaging	Het
Sf3b3	A	G	8: 111,560,467 (GRCm39)	V425A	probably benign	Het
Sidt2	A	T	9: 45,863,086 (GRCm39)	M15K	probably damaging	Het
Slc22a17	A	G	14: 55,144,748 (GRCm39)	L555P	probably damaging	Het
Smoc2	A	G	17: 14,595,719 (GRCm39)	D282G	possibly damaging	Het
Sorcs3	G	A	19: 48,748,284 (GRCm39)		probably null	Het
Spmap2l	C	T	5: 77,164,317 (GRCm39)	P107S	probably benign	Het
Srcin1	A	G	11: 97,464,703 (GRCm39)	W15R	probably damaging	Het
Stra6l	A	G	4: 45,870,860 (GRCm39)	T259A	probably benign	Het
Ube3a	T	C	7: 58,938,465 (GRCm39)	F741S	probably damaging	Het
Vasp	C	A	7: 18,998,594 (GRCm39)	M54I	probably benign	Het
Vmn1r174	A	T	7: 23,454,153 (GRCm39)	H273L	probably benign	Het
Vmn2r50	T	A	7: 9,771,644 (GRCm39)	I686F	probably damaging	Het
Vmn2r76	T	C	7: 85,877,915 (GRCm39)	E494G	probably benign	Het
Zfp788	A	G	7: 41,298,753 (GRCm39)	E443G	probably 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
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
R6889:Myh15	UTSW	16	48,973,474 (GRCm39)	missense	possibly damaging	0.75
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'- AACCCAGATCTGTTGGCTTCTG -3'
(R):5'- TTCAGTGACATGGAGAAAACTTGG -3'

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

Posted On

2016-07-06