Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Myh15'

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267824

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49057486-49199104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49138732 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 989 (D989G)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168680
AA Change: D989G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: D989G

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	Het

Other mutations in Myh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Myh15	APN	16	49165813	missense	probably damaging	0.98
IGL01095:Myh15	APN	16	49132015	missense	probably damaging	1.00
IGL01343:Myh15	APN	16	49155677	missense	probably benign	0.09
IGL01474:Myh15	APN	16	49132098	missense	probably damaging	1.00
IGL01572:Myh15	APN	16	49100222	missense	possibly damaging	0.55
IGL01595:Myh15	APN	16	49172949	missense	probably damaging	1.00
IGL01632:Myh15	APN	16	49061511	missense	probably benign	0.00
IGL01638:Myh15	APN	16	49069480	missense	probably damaging	1.00
IGL01667:Myh15	APN	16	49195579	missense	probably benign	0.20
IGL01715:Myh15	APN	16	49057484	unclassified	probably benign
IGL01833:Myh15	APN	16	49114058	missense	probably damaging	1.00
IGL02004:Myh15	APN	16	49110529	splice site	probably benign
IGL02033:Myh15	APN	16	49145344	missense	probably benign	0.05
IGL02148:Myh15	APN	16	49116315	missense	probably damaging	1.00
IGL02225:Myh15	APN	16	49091163	missense	probably benign	0.14
IGL02249:Myh15	APN	16	49110484	missense	probably damaging	0.99
IGL02505:Myh15	APN	16	49117263	missense	possibly damaging	0.90
IGL02622:Myh15	APN	16	49176954	missense	probably benign	0.02
IGL02814:Myh15	APN	16	49145438	splice site	probably benign
IGL02869:Myh15	APN	16	49145404	missense	probably benign
IGL02879:Myh15	APN	16	49173059	missense	possibly damaging	0.68
IGL02881:Myh15	APN	16	49117265	missense	possibly damaging	0.51
IGL03077:Myh15	APN	16	49096538	missense	probably benign	0.10
IGL03354:Myh15	APN	16	49172010	missense	probably benign	0.01
IGL03411:Myh15	APN	16	49159967	missense	possibly damaging	0.58
ANU74:Myh15	UTSW	16	49172932	missense	possibly damaging	0.58
P0027:Myh15	UTSW	16	49081208	missense	possibly damaging	0.77
PIT1430001:Myh15	UTSW	16	49196891	critical splice donor site	probably null
R0017:Myh15	UTSW	16	49163060	missense	probably damaging	0.97
R0038:Myh15	UTSW	16	49071141	splice site	probably benign
R0149:Myh15	UTSW	16	49114005	missense	probably benign	0.01
R0361:Myh15	UTSW	16	49114005	missense	probably benign	0.01
R0373:Myh15	UTSW	16	49182959	missense	possibly damaging	0.86
R0433:Myh15	UTSW	16	49145236	missense	probably damaging	1.00
R0525:Myh15	UTSW	16	49132051	missense	probably benign	0.03
R0586:Myh15	UTSW	16	49171887	splice site	probably benign
R0601:Myh15	UTSW	16	49061581	missense	probably damaging	1.00
R0717:Myh15	UTSW	16	49142993	missense	probably benign	0.03
R0963:Myh15	UTSW	16	49132149	missense	probably damaging	0.97
R1075:Myh15	UTSW	16	49120054	missense	possibly damaging	0.63
R1143:Myh15	UTSW	16	49065086	missense	probably benign	0.02
R1200:Myh15	UTSW	16	49096519	missense	probably damaging	1.00
R1644:Myh15	UTSW	16	49132203	missense	probably benign	0.12
R1646:Myh15	UTSW	16	49195568	missense	probably damaging	1.00
R1720:Myh15	UTSW	16	49092782	missense	probably damaging	1.00
R1768:Myh15	UTSW	16	49163135	missense	probably benign	0.27
R1881:Myh15	UTSW	16	49071083	missense	probably damaging	0.98
R2048:Myh15	UTSW	16	49155565	missense	probably damaging	0.99
R2064:Myh15	UTSW	16	49155621	missense	possibly damaging	0.50
R2184:Myh15	UTSW	16	49137511	missense	probably damaging	0.99
R2212:Myh15	UTSW	16	49138732	missense	probably benign	0.02
R2216:Myh15	UTSW	16	49165838	nonsense	probably null
R2321:Myh15	UTSW	16	49113073	missense	possibly damaging	0.93
R2327:Myh15	UTSW	16	49142950	missense	probably benign	0.01
R2395:Myh15	UTSW	16	49069514	missense	probably benign	0.04
R2399:Myh15	UTSW	16	49137589	missense	probably damaging	0.97
R4234:Myh15	UTSW	16	49163042	missense	probably benign	0.04
R4382:Myh15	UTSW	16	49142943	missense	probably benign	0.03
R4421:Myh15	UTSW	16	49109344	missense	probably damaging	0.99
R4580:Myh15	UTSW	16	49065025	missense	possibly damaging	0.93
R4657:Myh15	UTSW	16	49172058	nonsense	probably null
R4780:Myh15	UTSW	16	49120057	missense	probably benign	0.13
R5004:Myh15	UTSW	16	49132048	missense	probably damaging	0.99
R5175:Myh15	UTSW	16	49069426	missense	possibly damaging	0.85
R5189:Myh15	UTSW	16	49101507	missense	probably benign	0.20
R5311:Myh15	UTSW	16	49165841	missense	possibly damaging	0.94
R5318:Myh15	UTSW	16	49110471	missense	probably damaging	0.99
R5404:Myh15	UTSW	16	49159978	missense	probably benign	0.15
R5415:Myh15	UTSW	16	49117295	missense	probably null	1.00
R5558:Myh15	UTSW	16	49069537	missense	probably benign	0.32
R5977:Myh15	UTSW	16	49153503	missense	probably damaging	1.00
R6004:Myh15	UTSW	16	49159699	missense	probably benign	0.00
R6275:Myh15	UTSW	16	49145247	missense	probably benign	0.00
R6381:Myh15	UTSW	16	49101481	missense	probably damaging	1.00
R6448:Myh15	UTSW	16	49171932	missense	probably damaging	0.99
R6516:Myh15	UTSW	16	49137633	missense	probably benign	0.19
R6752:Myh15	UTSW	16	49182927	missense	probably damaging	1.00
R6847:Myh15	UTSW	16	49145088	missense	possibly damaging	0.70
R6868:Myh15	UTSW	16	49069403	missense	probably damaging	1.00
R6889:Myh15	UTSW	16	49153111	missense	possibly damaging	0.75
R6896:Myh15	UTSW	16	49113071	missense	probably benign	0.44
R6955:Myh15	UTSW	16	49081235	critical splice donor site	probably null
R6984:Myh15	UTSW	16	49110412	missense	probably damaging	1.00
R7046:Myh15	UTSW	16	49109299	nonsense	probably null
R7095:Myh15	UTSW	16	49171909	missense	possibly damaging	0.90
R7098:Myh15	UTSW	16	49177057	missense	possibly damaging	0.53
R7134:Myh15	UTSW	16	49081342	missense	possibly damaging	0.86
R7159:Myh15	UTSW	16	49061574	missense	probably damaging	0.97
R7244:Myh15	UTSW	16	49196786	missense	probably damaging	1.00
R7278:Myh15	UTSW	16	49091105	missense	probably damaging	0.98
R7309:Myh15	UTSW	16	49096465	missense	probably benign	0.34
R7327:Myh15	UTSW	16	49173006	missense	possibly damaging	0.88
R7418:Myh15	UTSW	16	49155537	missense	possibly damaging	0.69
R7937:Myh15	UTSW	16	49155646	missense	probably benign	0.00
R8053:Myh15	UTSW	16	49142939	missense	possibly damaging	0.89
R8313:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8315:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8316:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8317:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
R8342:Myh15	UTSW	16	49092757	missense	probably benign
R8379:Myh15	UTSW	16	49081188	missense	probably benign
R8445:Myh15	UTSW	16	49120018	missense	probably damaging	0.99
X0012:Myh15	UTSW	16	49142978	missense	probably damaging	1.00
X0020:Myh15	UTSW	16	49165874	missense	probably damaging	1.00
Z1176:Myh15	UTSW	16	49096531	missense	probably damaging	0.98
Z1177:Myh15	UTSW	16	49081228	missense	probably benign	0.02
Z1177:Myh15	UTSW	16	49155618	missense	probably damaging	0.97
Z1177:Myh15	UTSW	16	49159826	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CACTTCCTGACCATGGTAGATTAAG -3'
(R):5'- TGCTGTTCACTGCACATATGTAAC -3'

Sequencing Primer
(F):5'- TGAGTATTTTCAGCTATGAGAGAGAG -3'
(R):5'- CCAGCTTCAGGTTTGCTT -3'

Posted On

2015-02-18