Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Myh6'

534736

Institutional Source

Beutler Lab

Gene Symbol

Myh6

Ensembl Gene

ENSMUSG00000040752

Gene Name

myosin, heavy polypeptide 6, cardiac muscle, alpha

Synonyms

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

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55182206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1734 (S1734L)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297] [ENSMUST00000228731]

AlphaFold

Q02566

Predicted Effect

probably benign
Transcript: ENSMUST00000081857
AA Change: S1734L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: S1734L

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

probably benign
Transcript: ENSMUST00000226297
AA Change: S1734L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228731

Meta Mutation Damage Score

0.1086

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Myh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Myh6	APN	14	55,184,450 (GRCm39)	missense	probably benign	0.13
IGL00401:Myh6	APN	14	55,190,874 (GRCm39)	missense	probably benign	0.00
IGL01062:Myh6	APN	14	55,189,749 (GRCm39)	missense	probably damaging	0.99
IGL01300:Myh6	APN	14	55,200,548 (GRCm39)	missense	possibly damaging	0.94
IGL01688:Myh6	APN	14	55,201,417 (GRCm39)	missense	possibly damaging	0.74
IGL01695:Myh6	APN	14	55,194,870 (GRCm39)	missense	probably benign	0.01
IGL01762:Myh6	APN	14	55,199,538 (GRCm39)	missense	probably benign	0.17
IGL01803:Myh6	APN	14	55,182,000 (GRCm39)	missense	probably damaging	1.00
IGL02079:Myh6	APN	14	55,187,998 (GRCm39)	missense	probably damaging	1.00
IGL02315:Myh6	APN	14	55,191,291 (GRCm39)	missense	probably damaging	1.00
IGL02340:Myh6	APN	14	55,194,612 (GRCm39)	missense	possibly damaging	0.76
IGL02377:Myh6	APN	14	55,181,775 (GRCm39)	missense	probably benign	0.10
IGL02715:Myh6	APN	14	55,184,365 (GRCm39)	unclassified	probably benign
IGL02742:Myh6	APN	14	55,191,381 (GRCm39)	missense	possibly damaging	0.62
P0028:Myh6	UTSW	14	55,201,094 (GRCm39)	missense	probably benign
PIT4520001:Myh6	UTSW	14	55,187,581 (GRCm39)	missense	probably benign	0.00
R0058:Myh6	UTSW	14	55,200,861 (GRCm39)	missense	probably damaging	1.00
R0090:Myh6	UTSW	14	55,196,161 (GRCm39)	missense	probably damaging	0.97
R0360:Myh6	UTSW	14	55,185,804 (GRCm39)	nonsense	probably null
R0364:Myh6	UTSW	14	55,185,804 (GRCm39)	nonsense	probably null
R0395:Myh6	UTSW	14	55,183,777 (GRCm39)	missense	possibly damaging	0.94
R0549:Myh6	UTSW	14	55,196,065 (GRCm39)	missense	probably damaging	1.00
R0559:Myh6	UTSW	14	55,196,011 (GRCm39)	missense	probably benign
R0800:Myh6	UTSW	14	55,190,735 (GRCm39)	splice site	probably benign
R0892:Myh6	UTSW	14	55,184,511 (GRCm39)	missense	probably benign	0.17
R0975:Myh6	UTSW	14	55,190,826 (GRCm39)	missense	probably damaging	1.00
R1051:Myh6	UTSW	14	55,186,984 (GRCm39)	missense	probably benign	0.12
R1180:Myh6	UTSW	14	55,181,925 (GRCm39)	missense	possibly damaging	0.93
R1311:Myh6	UTSW	14	55,183,822 (GRCm39)	missense	probably damaging	0.96
R1490:Myh6	UTSW	14	55,200,175 (GRCm39)	nonsense	probably null
R1531:Myh6	UTSW	14	55,193,963 (GRCm39)	missense	probably damaging	1.00
R1835:Myh6	UTSW	14	55,194,858 (GRCm39)	missense	probably benign	0.03
R1845:Myh6	UTSW	14	55,182,131 (GRCm39)	missense	probably damaging	1.00
R2033:Myh6	UTSW	14	55,201,102 (GRCm39)	missense	probably benign	0.00
R2143:Myh6	UTSW	14	55,190,411 (GRCm39)	missense	probably damaging	1.00
R2146:Myh6	UTSW	14	55,191,228 (GRCm39)	missense	probably damaging	1.00
R2155:Myh6	UTSW	14	55,191,251 (GRCm39)	missense	probably benign
R2484:Myh6	UTSW	14	55,198,699 (GRCm39)	nonsense	probably null
R3155:Myh6	UTSW	14	55,182,125 (GRCm39)	missense	probably damaging	0.97
R3156:Myh6	UTSW	14	55,182,125 (GRCm39)	missense	probably damaging	0.97
R3780:Myh6	UTSW	14	55,201,415 (GRCm39)	missense	probably benign	0.00
R3906:Myh6	UTSW	14	55,194,412 (GRCm39)	missense	probably benign	0.04
R3937:Myh6	UTSW	14	55,200,512 (GRCm39)	missense	probably benign	0.00
R3938:Myh6	UTSW	14	55,200,512 (GRCm39)	missense	probably benign	0.00
R4236:Myh6	UTSW	14	55,197,819 (GRCm39)	missense	probably benign	0.15
R4373:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4374:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4377:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4798:Myh6	UTSW	14	55,190,750 (GRCm39)	missense	probably damaging	1.00
R4844:Myh6	UTSW	14	55,184,651 (GRCm39)	missense	possibly damaging	0.89
R4908:Myh6	UTSW	14	55,194,419 (GRCm39)	missense	probably damaging	1.00
R5256:Myh6	UTSW	14	55,190,118 (GRCm39)	missense	probably damaging	1.00
R5277:Myh6	UTSW	14	55,194,019 (GRCm39)	missense	probably benign	0.01
R5356:Myh6	UTSW	14	55,191,219 (GRCm39)	missense	probably damaging	1.00
R5433:Myh6	UTSW	14	55,191,381 (GRCm39)	missense	probably benign	0.32
R5616:Myh6	UTSW	14	55,194,038 (GRCm39)	missense	probably benign	0.17
R5784:Myh6	UTSW	14	55,190,521 (GRCm39)	missense	possibly damaging	0.93
R5820:Myh6	UTSW	14	55,196,137 (GRCm39)	missense	probably damaging	0.99
R5835:Myh6	UTSW	14	55,187,864 (GRCm39)	missense	probably damaging	1.00
R5922:Myh6	UTSW	14	55,183,931 (GRCm39)	missense	probably damaging	0.99
R5975:Myh6	UTSW	14	55,187,965 (GRCm39)	missense	probably benign	0.31
R5988:Myh6	UTSW	14	55,202,851 (GRCm39)	missense	probably damaging	1.00
R6630:Myh6	UTSW	14	55,179,458 (GRCm39)	missense	probably benign	0.01
R7009:Myh6	UTSW	14	55,189,749 (GRCm39)	missense	probably damaging	0.99
R7154:Myh6	UTSW	14	55,197,764 (GRCm39)	missense	probably benign	0.43
R7293:Myh6	UTSW	14	55,184,631 (GRCm39)	missense	probably benign	0.00
R7313:Myh6	UTSW	14	55,197,727 (GRCm39)	missense	probably benign	0.00
R7339:Myh6	UTSW	14	55,199,025 (GRCm39)	splice site	probably null
R7348:Myh6	UTSW	14	55,189,716 (GRCm39)	missense	probably damaging	1.00
R7487:Myh6	UTSW	14	55,190,953 (GRCm39)	nonsense	probably null
R7680:Myh6	UTSW	14	55,186,190 (GRCm39)	missense	possibly damaging	0.88
R7726:Myh6	UTSW	14	55,202,822 (GRCm39)	missense	probably damaging	0.99
R7743:Myh6	UTSW	14	55,194,607 (GRCm39)	missense	probably damaging	0.99
R7807:Myh6	UTSW	14	55,179,897 (GRCm39)	missense	probably damaging	1.00
R7851:Myh6	UTSW	14	55,190,508 (GRCm39)	missense	possibly damaging	0.94
R8145:Myh6	UTSW	14	55,191,382 (GRCm39)	missense	probably benign	0.45
R8344:Myh6	UTSW	14	55,190,891 (GRCm39)	missense	probably damaging	0.99
R8407:Myh6	UTSW	14	55,201,388 (GRCm39)	missense	probably benign	0.13
R8415:Myh6	UTSW	14	55,181,835 (GRCm39)	missense	probably damaging	0.98
R8782:Myh6	UTSW	14	55,187,357 (GRCm39)	missense	possibly damaging	0.76
R9034:Myh6	UTSW	14	55,185,596 (GRCm39)	missense	possibly damaging	0.47
R9354:Myh6	UTSW	14	55,200,992 (GRCm39)	missense	probably damaging	0.99
R9441:Myh6	UTSW	14	55,197,771 (GRCm39)	missense	probably benign	0.02
R9449:Myh6	UTSW	14	55,189,779 (GRCm39)	missense	possibly damaging	0.50
R9485:Myh6	UTSW	14	55,181,802 (GRCm39)	missense	probably benign	0.01
R9612:Myh6	UTSW	14	55,201,054 (GRCm39)	missense	probably benign	0.09
R9738:Myh6	UTSW	14	55,189,759 (GRCm39)	missense	probably benign	0.03
R9742:Myh6	UTSW	14	55,194,056 (GRCm39)	missense	probably benign
R9749:Myh6	UTSW	14	55,190,943 (GRCm39)	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	55,194,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCATGCGCTCCAGGTG -3'
(R):5'- CATCTCCTCAGCCTTAGATGAC -3'

Sequencing Primer
(F):5'- TCAGCCATCATTGCGGC -3'
(R):5'- GAACTAAGCAATAAAGTGTGC -3'

Posted On

2018-09-12