Mutagenetix > Incidental Mutation

Incidental Mutation 'R6184:Myh7'

488164

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R6184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55226315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 442 (R442C)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]

AlphaFold

Q91Z83

Predicted Effect

probably damaging
Transcript: ENSMUST00000102803
AA Change: R442C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: R442C

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 benign
Transcript: ENSMUST00000153783

SMART Domains

Protein: ENSMUSP00000116595
Gene: ENSMUSG00000053093

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	61	8.8e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168485
AA Change: R442C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: R442C

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

probably benign
Transcript: ENSMUST00000226424

Predicted Effect

probably benign
Transcript: ENSMUST00000227518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228715

Predicted Effect

probably benign
Transcript: ENSMUST00000228837

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,057,179 (GRCm39)	F106S	probably benign	Het
Adgrv1	A	T	13: 81,581,957 (GRCm39)	F4696I	probably benign	Het
Ank2	T	C	3: 126,756,047 (GRCm39)	I1073V	probably damaging	Het
Card11	A	T	5: 140,884,033 (GRCm39)	D415E	probably damaging	Het
Clec16a	G	A	16: 10,390,792 (GRCm39)		probably null	Het
Coro2a	T	C	4: 46,540,504 (GRCm39)	T472A	probably benign	Het
D130043K22Rik	T	A	13: 25,069,574 (GRCm39)	F878I	probably damaging	Het
D5Ertd579e	G	T	5: 36,787,127 (GRCm39)	D80E	probably damaging	Het
Ddrgk1	A	T	2: 130,506,481 (GRCm39)	V2E	possibly damaging	Het
Disp1	T	C	1: 182,867,896 (GRCm39)	H1508R	probably benign	Het
Dmtf1	T	C	5: 9,176,656 (GRCm39)	N344S	probably benign	Het
Eml5	A	G	12: 98,829,388 (GRCm39)	V503A	possibly damaging	Het
Fat1	A	G	8: 45,406,429 (GRCm39)	H1060R	probably benign	Het
Fbxw8	C	T	5: 118,251,814 (GRCm39)	R233Q	probably damaging	Het
Fer1l4	T	C	2: 155,890,211 (GRCm39)	K238R	probably damaging	Het
Flg	T	A	3: 93,187,357 (GRCm39)	S270T	probably benign	Het
Gm10801	TC	TCGCC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,659 (GRCm39)	V32D	probably damaging	Het
Gnl2	T	G	4: 124,948,022 (GRCm39)		probably null	Het
Gpr162	A	G	6: 124,838,204 (GRCm39)	S149P	probably damaging	Het
Il2ra	T	A	2: 11,652,790 (GRCm39)		probably benign	Het
Kics2	T	C	10: 121,586,810 (GRCm39)	L375P	probably damaging	Het
Kmt5b	T	A	19: 3,854,499 (GRCm39)	M254K	probably damaging	Het
Lrriq3	T	C	3: 154,835,039 (GRCm39)	I258T	probably benign	Het
Mbnl1	T	C	3: 60,523,165 (GRCm39)	L328S	probably damaging	Het
Mboat2	A	G	12: 25,001,430 (GRCm39)	D277G	possibly damaging	Het
Mug2	A	G	6: 122,014,005 (GRCm39)	I364V	probably benign	Het
Nin	A	G	12: 70,090,511 (GRCm39)	L968P	probably damaging	Het
Or1l8	T	C	2: 36,817,404 (GRCm39)	T241A	probably damaging	Het
Or5w14	A	T	2: 87,542,188 (GRCm39)	Y21N	probably benign	Het
Or8g53	T	G	9: 39,683,916 (GRCm39)	Y60S	probably damaging	Het
Per1	C	T	11: 68,993,730 (GRCm39)	P403S	probably damaging	Het
Ppip5k2	T	C	1: 97,661,730 (GRCm39)	I723V	possibly damaging	Het
Ptprg	A	G	14: 12,153,943 (GRCm38)	T555A	probably benign	Het
Rgsl1	C	T	1: 153,703,194 (GRCm39)	M187I	probably benign	Het
Sec31a	A	G	5: 100,517,453 (GRCm39)		probably null	Het
Sptbn5	C	T	2: 119,889,898 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stx1b	G	A	7: 127,407,077 (GRCm39)	T206I	possibly damaging	Het
Tsc22d4	T	A	5: 137,757,351 (GRCm39)	M35K	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,218 (GRCm39)	K452E	probably damaging	Het
Zfp386	A	G	12: 116,024,133 (GRCm39)	N582S	possibly damaging	Het
Zfp457	A	G	13: 67,440,976 (GRCm39)	V437A	possibly damaging	Het
Zfp599	T	C	9: 22,160,947 (GRCm39)	Y406C	probably benign	Het
Zfyve26	G	A	12: 79,315,501 (GRCm39)	S1325F	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGATTGGCTCTAATGGG -3'
(R):5'- TCAAAGTGGGCAACGAGTAC -3'

Sequencing Primer
(F):5'- GATTGGCTCTAATGGGTCCCC -3'
(R):5'- TCACCAAGGGGCAGAATGTCC -3'

Posted On

2017-10-10