Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Myh7'

408207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh7

Ensembl Gene

ENSMUSG00000053093

Gene Name

myosin, heavy polypeptide 7, cardiac muscle, beta

Synonyms

beta-MHC, MyHC-I, MYH-beta/slow, betaMHC, Myhcb, Myhc-b, B-MHC

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55221007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 972 (E972G)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000168485]

AlphaFold

Q91Z83

Predicted Effect

probably damaging
Transcript: ENSMUST00000102803
AA Change: E972G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: E972G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	73	3.8e-16	PFAM
MYSc	79	779	N/A	SMART
IQ	780	802	2.5e-2	SMART
Pfam:Myosin_tail_1	843	1924	5.6e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149852

Predicted Effect

probably damaging
Transcript: ENSMUST00000168485
AA Change: E972G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: E972G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	75	1.6e-17	PFAM
MYSc	79	779	N/A	SMART
IQ	780	802	2.5e-2	SMART
PDB:2FXO\|D	838	963	6e-53	PDB
Pfam:Myosin_tail_1	1068	1926	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228715

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Cyp2f2	A	T	7: 26,831,996 (GRCm39)	N417I	possibly damaging	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gabra6	T	C	11: 42,205,980 (GRCm39)	H291R	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mapk8ip2	A	T	15: 89,342,310 (GRCm39)	D507V	probably damaging	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myef2	T	A	2: 124,930,954 (GRCm39)	H539L	possibly damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Serpinb9d	G	A	13: 33,386,698 (GRCm39)	W255*	probably null	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	probably damaging	Het

Other mutations in Myh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Myh7	APN	14	55,224,845 (GRCm39)	missense	probably damaging	1.00
IGL01025:Myh7	APN	14	55,216,994 (GRCm39)	missense	probably damaging	1.00
IGL01092:Myh7	APN	14	55,209,089 (GRCm39)	missense	possibly damaging	0.91
IGL01384:Myh7	APN	14	55,208,916 (GRCm39)	missense	probably damaging	1.00
IGL01457:Myh7	APN	14	55,226,336 (GRCm39)	missense	possibly damaging	0.66
IGL01671:Myh7	APN	14	55,210,381 (GRCm39)	missense	probably damaging	1.00
IGL01923:Myh7	APN	14	55,222,916 (GRCm39)	critical splice donor site	probably null
IGL02183:Myh7	APN	14	55,212,188 (GRCm39)	missense	probably benign
IGL02379:Myh7	APN	14	55,216,925 (GRCm39)	missense	probably damaging	1.00
IGL02884:Myh7	APN	14	55,230,276 (GRCm39)	missense	probably benign	0.26
IGL02898:Myh7	APN	14	55,221,197 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7	APN	14	55,228,661 (GRCm39)	unclassified	probably benign
IGL03145:Myh7	APN	14	55,220,802 (GRCm39)	missense	probably damaging	1.00
IGL03250:Myh7	APN	14	55,229,704 (GRCm39)	missense	probably damaging	1.00
IGL03394:Myh7	APN	14	55,212,818 (GRCm39)	missense	probably damaging	1.00
BB008:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
BB018:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R0019:Myh7	UTSW	14	55,221,191 (GRCm39)	missense	possibly damaging	0.91
R0030:Myh7	UTSW	14	55,229,427 (GRCm39)	missense	probably benign	0.00
R0183:Myh7	UTSW	14	55,216,333 (GRCm39)	missense	probably benign	0.02
R0230:Myh7	UTSW	14	55,211,390 (GRCm39)	missense	probably benign	0.03
R0295:Myh7	UTSW	14	55,222,278 (GRCm39)	splice site	probably benign
R0423:Myh7	UTSW	14	55,216,646 (GRCm39)	missense	probably benign	0.06
R0537:Myh7	UTSW	14	55,228,256 (GRCm39)	missense	possibly damaging	0.81
R0541:Myh7	UTSW	14	55,212,158 (GRCm39)	missense	probably benign
R0581:Myh7	UTSW	14	55,222,953 (GRCm39)	missense	probably benign	0.02
R0786:Myh7	UTSW	14	55,230,330 (GRCm39)	start codon destroyed	probably null
R0866:Myh7	UTSW	14	55,210,596 (GRCm39)	missense	probably benign
R1068:Myh7	UTSW	14	55,224,776 (GRCm39)	missense	possibly damaging	0.93
R1075:Myh7	UTSW	14	55,224,860 (GRCm39)	missense	probably benign
R1124:Myh7	UTSW	14	55,211,327 (GRCm39)	missense	possibly damaging	0.78
R1140:Myh7	UTSW	14	55,210,339 (GRCm39)	missense	probably damaging	1.00
R1260:Myh7	UTSW	14	55,225,908 (GRCm39)	missense	probably benign	0.00
R1653:Myh7	UTSW	14	55,228,246 (GRCm39)	missense	probably benign	0.00
R1677:Myh7	UTSW	14	55,224,973 (GRCm39)	missense	probably benign	0.17
R1760:Myh7	UTSW	14	55,210,170 (GRCm39)	missense	probably damaging	1.00
R1838:Myh7	UTSW	14	55,210,637 (GRCm39)	missense	possibly damaging	0.91
R1839:Myh7	UTSW	14	55,210,637 (GRCm39)	missense	possibly damaging	0.91
R2483:Myh7	UTSW	14	55,210,838 (GRCm39)	missense	probably damaging	0.99
R2566:Myh7	UTSW	14	55,220,699 (GRCm39)	missense	probably damaging	1.00
R3623:Myh7	UTSW	14	55,210,838 (GRCm39)	missense	probably damaging	0.99
R3916:Myh7	UTSW	14	55,211,503 (GRCm39)	missense	probably damaging	0.97
R4236:Myh7	UTSW	14	55,228,575 (GRCm39)	missense	probably benign	0.34
R4471:Myh7	UTSW	14	55,229,311 (GRCm39)	nonsense	probably null
R4700:Myh7	UTSW	14	55,225,778 (GRCm39)	missense	possibly damaging	0.85
R4805:Myh7	UTSW	14	55,222,590 (GRCm39)	missense	probably benign	0.27
R4880:Myh7	UTSW	14	55,216,045 (GRCm39)	missense	probably benign	0.18
R4975:Myh7	UTSW	14	55,209,128 (GRCm39)	missense	probably damaging	1.00
R4982:Myh7	UTSW	14	55,210,224 (GRCm39)	missense	probably damaging	0.98
R5004:Myh7	UTSW	14	55,209,140 (GRCm39)	missense	probably damaging	0.99
R5107:Myh7	UTSW	14	55,223,881 (GRCm39)	intron	probably benign
R5124:Myh7	UTSW	14	55,223,199 (GRCm39)	nonsense	probably null
R5256:Myh7	UTSW	14	55,216,965 (GRCm39)	missense	probably damaging	1.00
R5335:Myh7	UTSW	14	55,224,020 (GRCm39)	intron	probably benign
R5581:Myh7	UTSW	14	55,216,411 (GRCm39)	missense	probably benign	0.00
R5861:Myh7	UTSW	14	55,226,347 (GRCm39)	missense	possibly damaging	0.89
R5957:Myh7	UTSW	14	55,226,535 (GRCm39)	missense	probably damaging	1.00
R6027:Myh7	UTSW	14	55,208,259 (GRCm39)	missense	probably benign	0.01
R6184:Myh7	UTSW	14	55,226,315 (GRCm39)	missense	probably damaging	1.00
R6232:Myh7	UTSW	14	55,226,753 (GRCm39)	missense	probably benign	0.00
R6268:Myh7	UTSW	14	55,226,741 (GRCm39)	missense	probably benign	0.00
R6274:Myh7	UTSW	14	55,216,943 (GRCm39)	missense	probably damaging	0.97
R6345:Myh7	UTSW	14	55,221,149 (GRCm39)	missense	probably damaging	1.00
R6383:Myh7	UTSW	14	55,226,351 (GRCm39)	missense	probably benign	0.00
R6641:Myh7	UTSW	14	55,219,737 (GRCm39)	missense	probably benign	0.37
R6755:Myh7	UTSW	14	55,229,770 (GRCm39)	missense	possibly damaging	0.71
R6952:Myh7	UTSW	14	55,229,197 (GRCm39)	missense	probably damaging	1.00
R7025:Myh7	UTSW	14	55,212,101 (GRCm39)	nonsense	probably null
R7201:Myh7	UTSW	14	55,228,402 (GRCm39)	missense	possibly damaging	0.58
R7257:Myh7	UTSW	14	55,209,947 (GRCm39)	splice site	probably null
R7296:Myh7	UTSW	14	55,227,482 (GRCm39)	missense	probably benign	0.05
R7709:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7710:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7711:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7712:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7817:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7858:Myh7	UTSW	14	55,227,500 (GRCm39)	missense	probably benign	0.09
R7869:Myh7	UTSW	14	55,226,530 (GRCm39)	missense	probably damaging	0.99
R7870:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7887:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R7931:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R7936:Myh7	UTSW	14	55,216,920 (GRCm39)	missense	possibly damaging	0.93
R8056:Myh7	UTSW	14	55,210,776 (GRCm39)	nonsense	probably null
R8061:Myh7	UTSW	14	55,228,398 (GRCm39)	missense	probably benign
R8101:Myh7	UTSW	14	55,210,776 (GRCm39)	nonsense	probably null
R8202:Myh7	UTSW	14	55,227,497 (GRCm39)	missense	probably benign
R8504:Myh7	UTSW	14	55,227,786 (GRCm39)	missense	probably damaging	0.98
R8560:Myh7	UTSW	14	55,213,405 (GRCm39)	missense	possibly damaging	0.93
R8843:Myh7	UTSW	14	55,212,752 (GRCm39)	missense	probably damaging	0.98
R8903:Myh7	UTSW	14	55,230,228 (GRCm39)	nonsense	probably null
R8926:Myh7	UTSW	14	55,222,533 (GRCm39)	missense	probably benign	0.33
R8936:Myh7	UTSW	14	55,228,440 (GRCm39)	missense	probably benign	0.00
R9182:Myh7	UTSW	14	55,226,374 (GRCm39)	missense	probably damaging	1.00
R9260:Myh7	UTSW	14	55,224,842 (GRCm39)	missense	probably damaging	0.99
R9264:Myh7	UTSW	14	55,213,454 (GRCm39)	missense	probably benign	0.01
R9288:Myh7	UTSW	14	55,222,932 (GRCm39)	missense	probably benign	0.35
R9362:Myh7	UTSW	14	55,222,932 (GRCm39)	missense	probably benign	0.00
R9497:Myh7	UTSW	14	55,217,841 (GRCm39)	missense	probably benign	0.12
R9561:Myh7	UTSW	14	55,216,146 (GRCm39)	missense	probably damaging	1.00
R9663:Myh7	UTSW	14	55,221,098 (GRCm39)	missense	probably damaging	1.00
R9789:Myh7	UTSW	14	55,229,384 (GRCm39)	missense	possibly damaging	0.87
Z1192:Myh7	UTSW	14	55,220,748 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02