Mutagenetix > Incidental Mutation

Incidental Mutation 'R6448:Myh15'

519268

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

044584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48877849-49019467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48992295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1590 (S1590A)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

probably damaging
Transcript: ENSMUST00000168680
AA Change: S1590A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: S1590A

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	A	T	12: 52,564,446 (GRCm39)	K472N	probably benign	Het
C2	T	G	17: 35,082,335 (GRCm39)	D298A	possibly damaging	Het
Col16a1	T	G	4: 129,952,781 (GRCm39)	L409R	probably damaging	Het
Dlgap1	A	G	17: 70,900,325 (GRCm39)	E380G	possibly damaging	Het
Fam111a	C	A	19: 12,565,701 (GRCm39)	H483Q	probably benign	Het
Fancc	C	T	13: 63,488,242 (GRCm39)	R246Q	probably damaging	Het
Glb1	A	T	9: 114,263,499 (GRCm39)	Q256L	probably damaging	Het
Gm9195	A	T	14: 72,671,451 (GRCm39)	D2611E	possibly damaging	Het
Gsto1	C	T	19: 47,846,420 (GRCm39)	T89I	probably benign	Het
Hmcn2	A	G	2: 31,310,832 (GRCm39)	S3359G	probably benign	Het
Hook3	T	A	8: 26,583,692 (GRCm39)	N87I	probably benign	Het
Htt	T	A	5: 35,033,336 (GRCm39)	M1868K	probably benign	Het
Ighv1-19	T	C	12: 114,672,296 (GRCm39)	E107G	probably damaging	Het
Il20rb	A	T	9: 100,356,986 (GRCm39)	M48K	probably benign	Het
Inpp5j	T	C	11: 3,445,387 (GRCm39)	H822R	probably damaging	Het
Kif14	G	T	1: 136,431,085 (GRCm39)	V1161F	probably damaging	Het
Klhdc2	T	A	12: 69,350,694 (GRCm39)	D169E	probably benign	Het
Ly75	A	G	2: 60,129,389 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Neb	T	C	2: 52,038,826 (GRCm39)	D6748G	probably damaging	Het
Nfrkb	T	C	9: 31,306,085 (GRCm39)	Y142H	probably damaging	Het
Or6c208	A	T	10: 129,224,021 (GRCm39)	D173V	probably damaging	Het
Or7a39	G	A	10: 78,715,516 (GRCm39)	C170Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,691 (GRCm39)	I47F	probably benign	Het
Prm2	G	A	16: 10,609,825 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,766,446 (GRCm39)	T1283A	probably benign	Het
Rest	T	C	5: 77,429,318 (GRCm39)	L579P	possibly damaging	Het
Slc6a1	C	T	6: 114,279,047 (GRCm39)	T46I	possibly damaging	Het
Tcf20	A	G	15: 82,736,861 (GRCm39)	I1530T	probably benign	Het
Tox	T	G	4: 6,822,975 (GRCm39)	D114A	probably benign	Het
Ulk4	C	T	9: 120,932,696 (GRCm39)	G1048D	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
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
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'- ACCTCGAAGCCTTATTAGTCTG -3'
(R):5'- GTTGCAAAGTACCTTCATTTGACC -3'

Sequencing Primer
(F):5'- TGAGAACAGACTCATCAATCTAATGC -3'
(R):5'- ATTTGACCCTGAAGCTGGC -3'

Posted On

2018-05-24