Mutagenetix > Incidental Mutation

Incidental Mutation 'R8773:Myh15'

664567

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

068627-MU

Accession Numbers

Essential gene?

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

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48877849-49019467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49015900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1859 (S1859P)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168680
AA Change: S1859P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: S1859P

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: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,314,062 (GRCm39)	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,634,569 (GRCm39)	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,213,708 (GRCm39)		probably null	Het
Agk	T	G	6: 40,334,050 (GRCm39)	V98G	possibly damaging	Het
Apbb2	A	G	5: 66,609,252 (GRCm39)	S132P	probably damaging	Het
Apc2	T	C	10: 80,142,046 (GRCm39)	S322P	probably damaging	Het
Armc3	T	C	2: 19,293,667 (GRCm39)	V486A	probably benign	Het
Asxl2	A	G	12: 3,507,200 (GRCm39)	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Bnc1	C	T	7: 81,623,719 (GRCm39)	G503S	probably damaging	Het
Bsn	C	A	9: 107,987,704 (GRCm39)	V2683F	unknown	Het
Btbd7	A	T	12: 102,804,241 (GRCm39)	N266K	probably benign	Het
Ccdc121rt2	T	C	5: 112,597,681 (GRCm39)	V76A	probably benign	Het
Cdca7l	G	A	12: 117,839,346 (GRCm39)	D350N	possibly damaging	Het
Cfap251	A	G	5: 123,411,913 (GRCm39)	D515G	probably benign	Het
Ciao2a	A	T	9: 66,045,667 (GRCm39)	N145I	probably damaging	Het
Col6a3	T	A	1: 90,696,171 (GRCm39)	D3239V	unknown	Het
Col9a1	T	A	1: 24,224,208 (GRCm39)	I130N	unknown	Het
Cr2	A	G	1: 194,840,913 (GRCm39)	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,417,583 (GRCm39)	F56S	probably damaging	Het
Dnaaf1	A	G	8: 120,302,194 (GRCm39)	I32V	probably benign	Het
Dnah11	T	A	12: 117,958,950 (GRCm39)	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,716,056 (GRCm39)	D302E	probably damaging	Het
Faf1	T	A	4: 109,699,507 (GRCm39)	F351I	possibly damaging	Het
Gimap8	C	A	6: 48,633,545 (GRCm39)	Q455K	probably benign	Het
Hps6	C	G	19: 45,994,141 (GRCm39)	R693G	possibly damaging	Het
Irx1	C	T	13: 72,107,635 (GRCm39)	G349D	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lcat	T	C	8: 106,666,710 (GRCm39)	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 130,983,679 (GRCm39)	H308R	probably damaging	Het
Mast1	A	T	8: 85,642,953 (GRCm39)	N947K	probably damaging	Het
Mpeg1	A	T	19: 12,440,419 (GRCm39)	I626F	probably damaging	Het
Mrtfa	T	C	15: 80,902,274 (GRCm39)	S349G	possibly damaging	Het
Nlrx1	A	T	9: 44,167,712 (GRCm39)	D728E	probably benign	Het
Or1j8	A	G	2: 36,192,387 (GRCm39)	T279A	probably benign	Het
Or8c19-ps1	G	T	9: 38,220,516 (GRCm39)	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,624,562 (GRCm39)	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,890,364 (GRCm39)	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,829,823 (GRCm39)	I757T	probably benign	Het
Pcgf5	G	A	19: 36,389,348 (GRCm39)		probably benign	Het
Pdf	A	G	8: 107,775,100 (GRCm39)	V44A	possibly damaging	Het
Pip4p1	T	C	14: 51,166,503 (GRCm39)	T194A	possibly damaging	Het
Prtg	A	T	9: 72,819,583 (GRCm39)	*1192L	probably null	Het
Ptk7	A	G	17: 46,877,193 (GRCm39)	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,684,492 (GRCm39)	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,321,796 (GRCm39)	D46G	possibly damaging	Het
Sbf2	A	G	7: 109,948,202 (GRCm39)	V1216A	probably benign	Het
Serpina11	A	G	12: 103,952,722 (GRCm39)	V18A	unknown	Het
Serpinb6a	T	A	13: 34,115,543 (GRCm39)	N47I	probably damaging	Het
Shc2	T	C	10: 79,456,924 (GRCm39)	H564R	probably damaging	Het
Sirt7	T	A	11: 120,514,888 (GRCm39)	R115*	probably null	Het
Slc22a14	A	T	9: 119,059,290 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,912,581 (GRCm39)	S331T	probably damaging	Het
Tm9sf2	A	G	14: 122,380,883 (GRCm39)	T324A	probably benign	Het
Tmem268	T	C	4: 63,498,530 (GRCm39)	S224P	probably benign	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,555,311 (GRCm39)		probably benign	Het
Top1	A	G	2: 160,556,158 (GRCm39)	Y539C	probably damaging	Het
Tpp2	T	A	1: 44,009,552 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,238 (GRCm39)	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,565,679 (GRCm39)	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,083,922 (GRCm39)	M209L	probably benign	Het
Xirp2	T	A	2: 67,355,527 (GRCm39)	D3429E	probably benign	Het
Zfp418	A	T	7: 7,185,797 (GRCm39)	T587S	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
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
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'- TCTCAAAACTCAGGATGAATGGGG -3'
(R):5'- CCCTCCTGTAAGCTGTAGTG -3'

Sequencing Primer
(F):5'- TCAGGATGAATGGGGTTAAATGTATC -3'
(R):5'- GTTTCACAAGCTCAGAGCA -3'

Posted On

2021-03-08