Mutagenetix > Incidental Mutation

Incidental Mutation 'R4374:Myh6'

325045

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

041118-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55199565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 249 (I249F)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000111456] [ENSMUST00000124930] [ENSMUST00000226297]

AlphaFold

Q02566

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081857
AA Change: I249F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: I249F

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: ENSMUST00000111456

SMART Domains

Protein: ENSMUSP00000107083
Gene: ENSMUSG00000040752

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	63	9.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124930

SMART Domains

Protein: ENSMUSP00000115615
Gene: ENSMUSG00000040752

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	75	1.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131892

Predicted Effect

probably damaging
Transcript: ENSMUST00000145322
AA Change: I249F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115326
Gene: ENSMUSG00000040752
AA Change: I249F

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	75	5.3e-17	PFAM
MYSc	79	781	N/A	SMART
IQ	782	804	1.15e-1	SMART
IQ	808	830	3.32e2	SMART
coiled coil region	842	1112	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226297
AA Change: I249F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.3780

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (38/39)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	A	G	7: 78,973,278 (GRCm39)	M86V	probably benign	Het
Acin1	C	A	14: 54,891,351 (GRCm39)		probably benign	Het
Aebp2	T	A	6: 140,599,984 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,258,732 (GRCm39)	E452G	probably damaging	Het
Amz1	T	C	5: 140,738,194 (GRCm39)	S184P	possibly damaging	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Ccdc83	A	T	7: 89,875,986 (GRCm39)	L295*	probably null	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cpsf7	A	T	19: 10,517,001 (GRCm39)	I368F	probably damaging	Het
Csf1r	G	A	18: 61,252,078 (GRCm39)	C520Y	probably damaging	Het
Dapk1	A	G	13: 60,867,498 (GRCm39)	D235G	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Fktn	T	C	4: 53,720,201 (GRCm39)	S72P	probably damaging	Het
Frem2	C	A	3: 53,452,923 (GRCm39)	V2189F	possibly damaging	Het
Gm10845	G	T	14: 80,100,563 (GRCm39)		noncoding transcript	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lama1	A	G	17: 68,111,513 (GRCm39)	M2255V	probably benign	Het
Lrsam1	G	T	2: 32,845,203 (GRCm39)	T104K	possibly damaging	Het
Myo7a	G	A	7: 97,751,881 (GRCm39)	T54M	probably damaging	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or5k15	A	C	16: 58,710,242 (GRCm39)	C114G	probably benign	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pfkp	A	G	13: 6,671,025 (GRCm39)	S135P	probably damaging	Het
Phf20l1	C	T	15: 66,476,686 (GRCm39)	T260I	possibly damaging	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Ppp6r2	T	G	15: 89,149,361 (GRCm39)	C216W	probably damaging	Het
Pramel7	C	T	2: 87,320,415 (GRCm39)	A293T	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,903,137 (GRCm39)	R177G	probably damaging	Het
Sh2b3	G	T	5: 121,966,549 (GRCm39)		probably benign	Het
Tbc1d30	A	G	10: 121,130,617 (GRCm39)	F271S	probably damaging	Het
Tpo	T	C	12: 30,153,151 (GRCm39)	E401G	possibly damaging	Het
Zdhhc13	T	C	7: 48,458,589 (GRCm39)	Y308H	probably damaging	Het
Zfp112	C	T	7: 23,825,798 (GRCm39)	H589Y	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
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
R6845:Myh6	UTSW	14	55,182,206 (GRCm39)	missense	probably benign
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'- AACCCAGGAAGAGGCTAGTTTC -3'
(R):5'- GACATAGACTAAGCCTGGTAGC -3'

Sequencing Primer
(F):5'- CCAGGAAGAGGCTAGTTTCAATAAAG -3'
(R):5'- AGACTAAGCCTGGTAGCTGTTTTCC -3'

Posted On

2015-07-06