Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Myh6'

544930

Institutional Source

Beutler Lab

Gene Symbol

Myh6

Ensembl Gene

ENSMUSG00000040752

Gene Name

myosin, heavy polypeptide 6, cardiac muscle, alpha

Synonyms

alpha myosin, A830009F23Rik, alpha cardiac MHC, cardiomyopathy, hypertrophic 1, Myhca, Myhc-a, alpha-MHC

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54952292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1099 (E1099G)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]

AlphaFold

Q02566

Predicted Effect

probably damaging
Transcript: ENSMUST00000081857
AA Change: E1099G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: E1099G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	73	1.9e-15	PFAM
MYSc	79	781	N/A	SMART
IQ	782	804	1.15e-1	SMART
IQ	808	830	3.32e2	SMART
Pfam:Myosin_tail_1	845	1926	2.1e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131892

Predicted Effect

probably damaging
Transcript: ENSMUST00000226297
AA Change: E1099G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,784,520	D193V	probably damaging	Het
4921517D22Rik	G	T	13: 59,690,810	D69E	possibly damaging	Het
Abat	A	C	16: 8,602,367	M177L	probably benign	Het
Acadvl	A	G	11: 70,014,791		probably null	Het
Adam5	T	C	8: 24,806,438	N331S	probably benign	Het
Ager	A	G	17: 34,600,736	E372G	probably damaging	Het
Angpt1	T	A	15: 42,523,595	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,242,880	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,245,976	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,519,639	Q1131L	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,969,365	M1K	probably null	Het
Ccdc18	G	A	5: 108,173,862		probably null	Het
Ccdc42	T	C	11: 68,594,616	F267S	probably damaging	Het
Cdh23	T	A	10: 60,337,306	Y1700F	probably damaging	Het
Cenpe	A	T	3: 135,235,201	S704C	probably damaging	Het
Cenpe	G	A	3: 135,235,202	S704N	probably benign	Het
Cfap54	A	T	10: 92,875,019	S2727T	unknown	Het
Clu	T	A	14: 65,971,832	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,320,034	I98V	probably benign	Het
Copa	G	T	1: 172,091,000	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,534,683		probably null	Het
Etnk1	T	A	6: 143,203,154		probably null	Het
Fnip1	A	T	11: 54,502,935	K732N	probably damaging	Het
G6pd2	A	G	5: 61,808,891	E3G	probably benign	Het
Gal3st2	A	G	1: 93,873,759	T95A	probably benign	Het
Gapvd1	A	G	2: 34,700,817	S948P	probably damaging	Het
Ggps1	A	T	13: 14,054,165	Y8*	probably null	Het
Gria2	T	C	3: 80,706,972	E587G	probably damaging	Het
Hpse	T	C	5: 100,692,279	E324G	probably benign	Het
Il16	G	A	7: 83,646,388	T493I	probably benign	Het
Ints1	T	C	5: 139,768,462	T652A	possibly damaging	Het
Ism1	A	G	2: 139,757,279	I391V	probably damaging	Het
Katnb1	A	G	8: 95,098,384	D598G	probably damaging	Het
Kif5c	A	G	2: 49,757,429	S880G	probably benign	Het
Klra8	T	C	6: 130,125,184	N96S	probably benign	Het
Krt79	T	A	15: 101,931,441	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,259,112	R92Q	probably benign	Het
Lce1d	C	A	3: 92,686,046	C20F	unknown	Het
Limk1	T	C	5: 134,672,699	T117A	probably benign	Het
Medag	A	T	5: 149,427,243	K61M	probably benign	Het
Mkrn3	T	C	7: 62,419,618	M142V	probably benign	Het
Mob3c	G	A	4: 115,831,582	R104H	probably benign	Het
Morc1	G	T	16: 48,627,070	R903L	possibly damaging	Het
Nphp3	T	G	9: 104,016,116	C434G	probably null	Het
Npr3	C	T	15: 11,905,248	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,722,538	Y112*	probably null	Het
Oprl1	A	G	2: 181,718,381	T77A	probably damaging	Het
Osgep	A	G	14: 50,924,708	V24A	probably damaging	Het
Otx2	T	A	14: 48,658,797	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,113,142	L922P	probably benign	Het
Phldb1	A	G	9: 44,694,408	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,359,935		probably null	Het
Psmd3	G	A	11: 98,682,766	D13N	probably benign	Het
Ptprc	G	A	1: 138,064,553	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,062,984	H291L	probably damaging	Het
Rasa4	T	A	5: 136,101,363	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,503,692		silent	Het
Rin2	A	C	2: 145,883,475	D794A	probably damaging	Het
Ripk1	A	G	13: 34,030,062	I522M	probably damaging	Het
Rnf31	T	C	14: 55,592,551	Y143H	probably benign	Het
Rp1	T	G	1: 4,042,068	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,619,537	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,460,334	V455A	probably damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	T	G	9: 119,485,930	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,436,002	S240*	probably null	Het
Slc22a8	C	T	19: 8,605,417	T154I	probably benign	Het
Slc25a16	T	A	10: 62,937,454	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,610,804	S2T	probably benign	Het
Srd5a3	G	A	5: 76,149,866	V48I	probably benign	Het
Srebf1	A	C	11: 60,200,526	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,697,191	K1310E	probably benign	Het
Swt1	A	G	1: 151,370,630	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,840,699	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,854,682	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,894,733		probably null	Het
Tmem246	A	T	4: 49,586,325	M281K	probably benign	Het
Trim45	A	G	3: 100,931,879		probably benign	Het
Tsen2	T	A	6: 115,547,972	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,958,073	C715*	probably null	Het
Vmn2r102	G	A	17: 19,694,194	V674I	probably damaging	Het
Zfp87	A	G	13: 67,517,054	S430P	probably damaging	Het

Other mutations in Myh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Myh6	APN	14	54946993	missense	probably benign	0.13
IGL00401:Myh6	APN	14	54953417	missense	probably benign	0.00
IGL01062:Myh6	APN	14	54952292	missense	probably damaging	0.99
IGL01300:Myh6	APN	14	54963091	missense	possibly damaging	0.94
IGL01688:Myh6	APN	14	54963960	missense	possibly damaging	0.74
IGL01695:Myh6	APN	14	54957413	missense	probably benign	0.01
IGL01762:Myh6	APN	14	54962081	missense	probably benign	0.17
IGL01803:Myh6	APN	14	54944543	missense	probably damaging	1.00
IGL02079:Myh6	APN	14	54950541	missense	probably damaging	1.00
IGL02315:Myh6	APN	14	54953834	missense	probably damaging	1.00
IGL02340:Myh6	APN	14	54957155	missense	possibly damaging	0.76
IGL02377:Myh6	APN	14	54944318	missense	probably benign	0.10
IGL02715:Myh6	APN	14	54946908	unclassified	probably benign
IGL02742:Myh6	APN	14	54953924	missense	possibly damaging	0.62
P0028:Myh6	UTSW	14	54963637	missense	probably benign
PIT4520001:Myh6	UTSW	14	54950124	missense	probably benign	0.00
R0058:Myh6	UTSW	14	54963404	missense	probably damaging	1.00
R0090:Myh6	UTSW	14	54958704	missense	probably damaging	0.97
R0360:Myh6	UTSW	14	54948347	nonsense	probably null
R0364:Myh6	UTSW	14	54948347	nonsense	probably null
R0395:Myh6	UTSW	14	54946320	missense	possibly damaging	0.94
R0549:Myh6	UTSW	14	54958608	missense	probably damaging	1.00
R0559:Myh6	UTSW	14	54958554	missense	probably benign
R0800:Myh6	UTSW	14	54953278	splice site	probably benign
R0892:Myh6	UTSW	14	54947054	missense	probably benign	0.17
R0975:Myh6	UTSW	14	54953369	missense	probably damaging	1.00
R1051:Myh6	UTSW	14	54949527	missense	probably benign	0.12
R1180:Myh6	UTSW	14	54944468	missense	possibly damaging	0.93
R1311:Myh6	UTSW	14	54946365	missense	probably damaging	0.96
R1490:Myh6	UTSW	14	54962718	nonsense	probably null
R1531:Myh6	UTSW	14	54956506	missense	probably damaging	1.00
R1835:Myh6	UTSW	14	54957401	missense	probably benign	0.03
R1845:Myh6	UTSW	14	54944674	missense	probably damaging	1.00
R2033:Myh6	UTSW	14	54963645	missense	probably benign	0.00
R2143:Myh6	UTSW	14	54952954	missense	probably damaging	1.00
R2146:Myh6	UTSW	14	54953771	missense	probably damaging	1.00
R2155:Myh6	UTSW	14	54953794	missense	probably benign
R2484:Myh6	UTSW	14	54961242	nonsense	probably null
R3155:Myh6	UTSW	14	54944668	missense	probably damaging	0.97
R3156:Myh6	UTSW	14	54944668	missense	probably damaging	0.97
R3780:Myh6	UTSW	14	54963958	missense	probably benign	0.00
R3906:Myh6	UTSW	14	54956955	missense	probably benign	0.04
R3937:Myh6	UTSW	14	54963055	missense	probably benign	0.00
R3938:Myh6	UTSW	14	54963055	missense	probably benign	0.00
R4236:Myh6	UTSW	14	54960362	missense	probably benign	0.15
R4373:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4374:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4377:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4798:Myh6	UTSW	14	54953293	missense	probably damaging	1.00
R4844:Myh6	UTSW	14	54947194	missense	possibly damaging	0.89
R4908:Myh6	UTSW	14	54956962	missense	probably damaging	1.00
R5256:Myh6	UTSW	14	54952661	missense	probably damaging	1.00
R5277:Myh6	UTSW	14	54956562	missense	probably benign	0.01
R5356:Myh6	UTSW	14	54953762	missense	probably damaging	1.00
R5433:Myh6	UTSW	14	54953924	missense	probably benign	0.32
R5616:Myh6	UTSW	14	54956581	missense	probably benign	0.17
R5784:Myh6	UTSW	14	54953064	missense	possibly damaging	0.93
R5820:Myh6	UTSW	14	54958680	missense	probably damaging	0.99
R5835:Myh6	UTSW	14	54950407	missense	probably damaging	1.00
R5922:Myh6	UTSW	14	54946474	missense	probably damaging	0.99
R5975:Myh6	UTSW	14	54950508	missense	probably benign	0.31
R5988:Myh6	UTSW	14	54965394	missense	probably damaging	1.00
R6630:Myh6	UTSW	14	54942001	missense	probably benign	0.01
R6845:Myh6	UTSW	14	54944749	missense	probably benign
R7154:Myh6	UTSW	14	54960307	missense	probably benign	0.43
R7293:Myh6	UTSW	14	54947174	missense	probably benign	0.00
R7313:Myh6	UTSW	14	54960270	missense	probably benign	0.00
R7339:Myh6	UTSW	14	54961568	splice site	probably null
R7348:Myh6	UTSW	14	54952259	missense	probably damaging	1.00
R7487:Myh6	UTSW	14	54953496	nonsense	probably null
R7680:Myh6	UTSW	14	54948733	missense	possibly damaging	0.88
R7726:Myh6	UTSW	14	54965365	missense	probably damaging	0.99
R7743:Myh6	UTSW	14	54957150	missense	probably damaging	0.99
R7807:Myh6	UTSW	14	54942440	missense	probably damaging	1.00
R7851:Myh6	UTSW	14	54953051	missense	possibly damaging	0.94
R8145:Myh6	UTSW	14	54953925	missense	probably benign	0.45
R8344:Myh6	UTSW	14	54953434	missense	probably damaging	0.99
R8407:Myh6	UTSW	14	54963931	missense	probably benign	0.13
R8415:Myh6	UTSW	14	54944378	missense	probably damaging	0.98
R8782:Myh6	UTSW	14	54949900	missense	possibly damaging	0.76
R9034:Myh6	UTSW	14	54948139	missense	possibly damaging	0.47
R9354:Myh6	UTSW	14	54963535	missense	probably damaging	0.99
R9441:Myh6	UTSW	14	54960314	missense	probably benign	0.02
R9449:Myh6	UTSW	14	54952322	missense	possibly damaging	0.50
R9485:Myh6	UTSW	14	54944345	missense	probably benign	0.01
R9612:Myh6	UTSW	14	54963597	missense	probably benign	0.09
R9738:Myh6	UTSW	14	54952302	missense	probably benign	0.03
R9742:Myh6	UTSW	14	54956599	missense	probably benign
R9749:Myh6	UTSW	14	54953486	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	54956997	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCAATAACGGGAAAGCTAG -3'
(R):5'- CTTCCCTGGACACACTGAAAG -3'

Sequencing Primer
(F):5'- CTCAATAACGGGAAAGCTAGTGTTCC -3'
(R):5'- GTGAGGGCAGTCAGGGCTC -3'

Posted On

2019-05-13