Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Myh7'

609136

Institutional Source

Beutler Lab

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

MMRRC Submission

045939-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55221119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 935 (E935K)

Ref Sequence

ENSEMBL: ENSMUSP00000099867 (fasta)

Gene Model

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

AlphaFold

Q91Z83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102803
AA Change: E935K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: E935K

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

possibly damaging
Transcript: ENSMUST00000168485
AA Change: E935K

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: E935K

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

Meta Mutation Damage Score

0.5482

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343 (GRCm39)	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,592,216 (GRCm39)	T834M	probably damaging	Het
Astn2	C	T	4: 65,563,103 (GRCm39)	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501 (GRCm39)	Y197H	probably benign	Het
Brdt	T	C	5: 107,507,799 (GRCm39)	S676P	possibly damaging	Het
Chrdl2	T	C	7: 99,678,457 (GRCm39)	V343A	possibly damaging	Het
Clcn3	A	T	8: 61,394,433 (GRCm39)	M59K	probably benign	Het
Cpne4	A	T	9: 104,909,990 (GRCm39)	N529I	probably damaging	Het
Crcp	G	T	5: 130,066,711 (GRCm39)	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,765,268 (GRCm39)	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,320,812 (GRCm39)	S118P	possibly damaging	Het
Egr3	A	G	14: 70,316,651 (GRCm39)	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,478,662 (GRCm39)		probably null	Het
Focad	T	G	4: 88,100,853 (GRCm39)	I313M	probably damaging	Het
Gm10272	C	T	10: 77,542,779 (GRCm39)	P107L	probably benign	Het
Gpr26	A	C	7: 131,568,702 (GRCm39)	I16L	probably benign	Het
Gpr39	C	A	1: 125,605,279 (GRCm39)	T69K	probably damaging	Het
Hacl1	C	T	14: 31,356,184 (GRCm39)	G97S	probably damaging	Het
Idh3b	A	C	2: 130,123,678 (GRCm39)	D136E	probably damaging	Het
Irf6	G	A	1: 192,850,040 (GRCm39)	V321M	probably damaging	Het
Klrg2	T	A	6: 38,613,506 (GRCm39)	T166S	probably damaging	Het
Lnx2	T	C	5: 146,955,853 (GRCm39)	I648V	probably damaging	Het
Mecr	A	G	4: 131,588,177 (GRCm39)		probably null	Het
Mnat1	T	A	12: 73,234,965 (GRCm39)	S205T	probably benign	Het
Mpnd	G	A	17: 56,318,097 (GRCm39)	G204D	probably benign	Het
Nid1	G	T	13: 13,674,318 (GRCm39)	R899L	possibly damaging	Het
Nisch	C	T	14: 30,898,652 (GRCm39)	W664*	probably null	Het
Nudt6	C	T	3: 37,466,529 (GRCm39)	V157I	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or51h7	A	C	7: 102,591,358 (GRCm39)	L142R	possibly damaging	Het
Or5l13	T	C	2: 87,780,224 (GRCm39)	M118V	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,175 (GRCm39)	M107L	unknown	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Phf11d	A	G	14: 59,597,029 (GRCm39)	Y57H	probably damaging	Het
Prkaca	T	C	8: 84,713,524 (GRCm39)	V99A	probably benign	Het
Rnf144b	T	A	13: 47,393,287 (GRCm39)	C209S	probably damaging	Het
Scly	G	A	1: 91,228,363 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,255,133 (GRCm39)	Y872C	probably benign	Het
Ssh1	C	T	5: 114,099,410 (GRCm39)		probably null	Het
Strap	T	G	6: 137,716,807 (GRCm39)	L129V	possibly damaging	Het
Sympk	T	C	7: 18,768,364 (GRCm39)	I111T	possibly damaging	Het
Tprn	C	A	2: 25,154,024 (GRCm39)	A442E	probably damaging	Het
Tsen34	T	C	7: 3,697,707 (GRCm39)	L36P	probably damaging	Het
Ubr4	T	C	4: 139,135,121 (GRCm39)	F818L	probably damaging	Het
Uggt1	T	C	1: 36,247,115 (GRCm39)	Y294C	probably damaging	Het
Usp20	A	G	2: 30,910,906 (GRCm39)	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,658,956 (GRCm39)	I57F	probably damaging	Het
Wdr64	C	T	1: 175,613,111 (GRCm39)	A662V	not run	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
IGL03027:Myh7	APN	14	55,221,007 (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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGGAACCTCCATGCTCC -3'
(R):5'- GGAAGGCCATGTGAAGACTTTG -3'

Sequencing Primer
(F):5'- ATGAGGAACATGCTGTGG -3'
(R):5'- GCCATGTGAAGACTTTGAGTTCCC -3'

Posted On

2019-12-20