Mutagenetix > Incidental Mutation

Incidental Mutation 'R5318:Myh15'

405951

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

042901-MU

Accession Numbers

Essential gene?

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

Stock #

R5318 (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 48930834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 603 (S603A)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

probably damaging
Transcript: ENSMUST00000168680
AA Change: S603A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: S603A

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	A	17: 35,878,883 (GRCm39)	E74K	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ankfn1	A	G	11: 89,282,754 (GRCm39)	S298P	probably damaging	Het
Arfgef2	A	C	2: 166,715,891 (GRCm39)	K1393N	probably damaging	Het
Atp4a	T	A	7: 30,414,754 (GRCm39)	V181E	probably damaging	Het
Bin3	A	G	14: 70,371,961 (GRCm39)	D134G	possibly damaging	Het
Cabs1	A	G	5: 88,128,425 (GRCm39)	T359A	possibly damaging	Het
Cblb	A	T	16: 52,006,561 (GRCm39)	K754N	possibly damaging	Het
Ccdc153	A	T	9: 44,157,062 (GRCm39)	R135*	probably null	Het
Cel	T	C	2: 28,447,720 (GRCm39)	E398G	possibly damaging	Het
Clip1	G	A	5: 123,751,147 (GRCm39)		probably benign	Het
Dnase2b	C	A	3: 146,288,210 (GRCm39)	R295L	probably benign	Het
Dnm3	G	A	1: 161,839,376 (GRCm39)	Q194*	probably null	Het
Dtx2	T	A	5: 136,040,954 (GRCm39)	S120T	possibly damaging	Het
Fat3	A	T	9: 16,287,925 (GRCm39)	S533T	probably damaging	Het
Foxred2	T	C	15: 77,836,598 (GRCm39)	I306V	probably benign	Het
Gdpd5	A	T	7: 99,102,234 (GRCm39)	T278S	probably benign	Het
Gli2	T	A	1: 118,772,200 (GRCm39)	T502S	probably damaging	Het
Gm21830	A	T	2: 67,263,158 (GRCm39)		probably null	Het
Gm5617	T	A	9: 48,407,211 (GRCm39)	I115N	possibly damaging	Het
Gpr75	G	T	11: 30,842,459 (GRCm39)	A455S	probably benign	Het
Grik3	A	G	4: 125,587,929 (GRCm39)	E683G	probably damaging	Het
Grin2b	T	C	6: 135,710,916 (GRCm39)	I877V	probably damaging	Het
Gsg1l2	G	T	11: 67,673,347 (GRCm39)	C109F	possibly damaging	Het
H2-Q4	G	A	17: 35,602,287 (GRCm39)	V341I	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kif5c	A	G	2: 49,561,840 (GRCm39)	K68R	probably benign	Het
Lct	T	A	1: 128,232,109 (GRCm39)	H580L	probably damaging	Het
Lrrtm4	A	G	6: 79,999,495 (GRCm39)	I302M	probably damaging	Het
Mef2b	A	T	8: 70,619,493 (GRCm39)	R228W	probably damaging	Het
Mtus2	T	A	5: 148,013,382 (GRCm39)	D58E	probably benign	Het
Or1x2	T	C	11: 50,918,420 (GRCm39)	V197A	probably benign	Het
Or8d1	C	T	9: 38,766,744 (GRCm39)	P129S	probably damaging	Het
Or8s2	A	G	15: 98,276,523 (GRCm39)	I156T	possibly damaging	Het
P2rx4	G	A	5: 122,857,211 (GRCm39)	C149Y	probably null	Het
Pramel51	A	T	12: 88,142,998 (GRCm39)	C207S	probably benign	Het
Proca1	T	A	11: 78,092,683 (GRCm39)	V43E	possibly damaging	Het
Rftn1	G	T	17: 50,301,486 (GRCm39)	N454K	probably benign	Het
Rrp15	T	C	1: 186,453,743 (GRCm39)	T235A	probably benign	Het
Serpina6	T	C	12: 103,620,221 (GRCm39)	E176G	possibly damaging	Het
Shprh	T	G	10: 11,042,301 (GRCm39)	I761M	probably benign	Het
Smg1	A	T	7: 117,759,427 (GRCm39)		probably benign	Het
Snupn	T	C	9: 56,864,345 (GRCm39)	S15P	probably damaging	Het
Tbc1d15	A	T	10: 115,044,874 (GRCm39)	Y509*	probably null	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tdrd3	T	C	14: 87,714,899 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,029,576 (GRCm39)	V175D	probably benign	Het
Vmn1r201	T	C	13: 22,659,092 (GRCm39)	L102P	probably damaging	Het
Wdfy4	T	A	14: 32,800,300 (GRCm39)	N1788I	possibly damaging	Het
Xpc	A	C	6: 91,469,992 (GRCm39)	V744G	probably damaging	Het
Xrcc6	T	C	15: 81,921,708 (GRCm39)	F178L	probably damaging	Het
Zbed6	A	G	1: 133,585,853 (GRCm39)	S495P	possibly damaging	Het
Zfyve26	A	G	12: 79,317,624 (GRCm39)	V1196A	probably benign	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
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'- GACAGCCTTCTGGAATGTTACTC -3'
(R):5'- CTCTAGGGCATGAAAGACATCAC -3'

Sequencing Primer
(F):5'- GCCTTCTGGAATGTTACTCAATATTG -3'
(R):5'- GGCATGAAAGACATCACAGAAAAC -3'

Posted On

2016-07-22