Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Myh15'

241182

Institutional Source

Beutler Lab

Gene Symbol

Myh15

Ensembl Gene

ENSMUSG00000092009

Gene Name

myosin, heavy chain 15

Synonyms

EG667772

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49057486-49199104 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 49165838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 1557 (S1557*)

Ref Sequence

ENSEMBL: ENSMUSP00000127539 (fasta)

Gene Model

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

AlphaFold

E9Q264

Predicted Effect

probably null
Transcript: ENSMUST00000168680
AA Change: S1557*

SMART Domains

Protein: ENSMUSP00000127539
Gene: ENSMUSG00000092009
AA Change: S1557*

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: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly 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
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'- GATGAATGCCTTGGCTTGTCC -3'
(R):5'- ATAGACCGAGTGTCCCTGAC -3'

Sequencing Primer
(F):5'- GGGCCTGACTTGAACCTAGATTTC -3'
(R):5'- CGAGTGTCCCTGACTGTGGTC -3'

Posted On

2014-10-15