Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Myh15'

30651

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49057486-49199104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49182959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1794 (T1794A)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168680
AA Change: T1794A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: T1794A

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: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	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
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
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
R8707:Myh15	UTSW	16	49153087	missense	probably damaging	1.00
R8729:Myh15	UTSW	16	49061488	missense	probably damaging	0.97
R8773:Myh15	UTSW	16	49195537	missense	possibly damaging	0.89
R8869:Myh15	UTSW	16	49177003	missense	probably benign
R8890:Myh15	UTSW	16	49138767	missense	probably damaging	1.00
R9026:Myh15	UTSW	16	49187070	missense	probably damaging	1.00
R9063:Myh15	UTSW	16	49092755	missense	probably benign	0.00
R9290:Myh15	UTSW	16	49177012	missense	probably damaging	1.00
R9630:Myh15	UTSW	16	49159978	missense	probably benign	0.15
R9710:Myh15	UTSW	16	49138681	missense	probably damaging	1.00
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'- GAGGTTACACATATGGAGGCCAAGC -3'
(R):5'- CCAGCATCTGAACGTGCCATTAAAC -3'

Sequencing Primer
(F):5'- cagatgaagaacagcaagcac -3'
(R):5'- CCATTAAACAACGTGATGAGCTG -3'

Posted On

2013-04-24