Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Myh15'

222283

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

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

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48877849-49019467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48975928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1332 (D1332G)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

probably damaging
Transcript: ENSMUST00000168680
AA Change: D1332G

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

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: D1332G

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

Meta Mutation Damage Score

0.4809

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	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
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
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'- CCTCCCTGGGTTTAAGTTCAAC -3'
(R):5'- TGGTTGAGCATAGCCTTGATCTAC -3'

Sequencing Primer
(F):5'- GGCTTTACTTGAAAAGACTATGTCCC -3'
(R):5'- GAGCATAGCCTTGATCTACTCACTTG -3'

Posted On

2014-08-25