Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01595:Myh15'

93379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

49057486-49199104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49172949 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1649 (D1649V)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168680
AA Change: D1649V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: D1649V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 23,078,169	M111V	probably damaging	Het
Adamts14	A	T	10: 61,205,473	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,193,306	N1072K	probably benign	Het
Ahnak	T	A	19: 9,003,501	Y716*	probably null	Het
Arfgef3	T	C	10: 18,594,912	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,042,499		probably null	Het
Bdnf	A	T	2: 109,723,928	K176*	probably null	Het
C2cd5	C	T	6: 143,018,022	R879H	probably damaging	Het
Capn11	T	A	17: 45,639,434	H327L	probably benign	Het
Ccdc68	A	G	18: 69,956,046	N220S	probably benign	Het
Cftr	T	C	6: 18,198,239		probably benign	Het
Clca2	G	A	3: 145,088,007	L296F	probably damaging	Het
Cubn	A	T	2: 13,325,216	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,611,417		probably null	Het
Gpr37	G	T	6: 25,669,573	T424N	probably damaging	Het
Kank3	G	A	17: 33,819,180		probably null	Het
Kcnh5	T	C	12: 74,898,327	Q716R	probably benign	Het
Kntc1	G	A	5: 123,803,695	M1817I	probably benign	Het
Krt79	T	G	15: 101,931,771	E330A	probably damaging	Het
Mapk15	C	A	15: 75,995,280	P82Q	probably benign	Het
Myo1d	T	C	11: 80,676,110	I326V	probably benign	Het
Nek9	A	T	12: 85,314,420	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,066,112	C337*	probably null	Het
Nup160	A	G	2: 90,729,737	N1269D	probably damaging	Het
Olfr250	T	C	9: 38,368,050	V168A	probably benign	Het
Olfr594	A	G	7: 103,220,351	D211G	probably damaging	Het
Olfr661	T	C	7: 104,688,078	M21T	possibly damaging	Het
Pde6a	A	G	18: 61,281,528	M36V	probably damaging	Het
Perp	A	G	10: 18,855,659	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,657,800	Y101H	probably benign	Het
Sbk2	C	A	7: 4,957,713	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,428,322	N25I	probably damaging	Het
Tbx5	A	T	5: 119,840,838	D105V	probably damaging	Het
Trip6	T	A	5: 137,313,413	T101S	probably benign	Het
Ush2a	T	A	1: 188,654,724		probably null	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
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
R3413:Myh15	UTSW	16	49138732	missense	probably benign	0.02
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
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
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

Posted On

2013-12-09