Mutagenetix > Incidental Mutation

Incidental Mutation 'R6952:Myh7'

543300

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

045064-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R6952 (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 55229197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 169 (R169Q)

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: R169Q

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

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: R169Q

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

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: R169Q

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

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: R169Q

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

probably benign
Transcript: ENSMUST00000228837

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,368,484 (GRCm39)		probably null	Het
Acap1	C	A	11: 69,776,343 (GRCm39)	V219L	probably benign	Het
Arpp21	G	A	9: 111,955,550 (GRCm39)	P530S	probably damaging	Het
Atp6v1b1	T	C	6: 83,731,792 (GRCm39)	V224A	probably damaging	Het
Brd3	T	C	2: 27,344,371 (GRCm39)	D453G	probably damaging	Het
Btbd10	A	T	7: 112,951,150 (GRCm39)		probably null	Het
Ccdc148	T	C	2: 58,713,657 (GRCm39)	H498R	probably damaging	Het
Cga	A	T	4: 34,905,171 (GRCm39)	Y65F	possibly damaging	Het
Chd7	A	T	4: 8,856,797 (GRCm39)	H136L	probably damaging	Het
Chit1	T	C	1: 134,071,022 (GRCm39)	Y34H	probably damaging	Het
Cimap2	C	G	4: 106,467,596 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnhd1	T	G	7: 105,362,895 (GRCm39)	V3819G	probably damaging	Het
Dsg3	A	T	18: 20,658,216 (GRCm39)	I276F	possibly damaging	Het
Dusp1	T	C	17: 26,726,577 (GRCm39)	S162G	probably benign	Het
Entrep1	A	T	19: 23,962,082 (GRCm39)	M307K	possibly damaging	Het
Gga2	C	A	7: 121,598,111 (GRCm39)	A328S	probably benign	Het
Gpr183	A	G	14: 122,191,897 (GRCm39)	I208T	possibly damaging	Het
Haspin	T	C	11: 73,026,971 (GRCm39)	D706G	possibly damaging	Het
Hdac5	T	C	11: 102,095,786 (GRCm39)	I338V	probably benign	Het
Ik	C	T	18: 36,886,613 (GRCm39)	R362C	probably damaging	Het
Kdm4c	T	G	4: 74,275,587 (GRCm39)	C754W	probably damaging	Het
Limk1	T	A	5: 134,699,332 (GRCm39)	I142F	possibly damaging	Het
Mccc2	T	C	13: 100,104,234 (GRCm39)	E305G	probably benign	Het
Mdm1	A	G	10: 118,003,962 (GRCm39)	D639G	probably damaging	Het
Mefv	T	G	16: 3,528,744 (GRCm39)	T566P	probably damaging	Het
Mep1b	G	A	18: 21,221,727 (GRCm39)	V226I	probably benign	Het
Mgmt	T	C	7: 136,553,064 (GRCm39)	M19T	probably benign	Het
Mrgpra6	A	T	7: 46,835,693 (GRCm39)	S243T	probably benign	Het
Myo1b	T	C	1: 51,801,668 (GRCm39)	I917V	probably damaging	Het
Or4a80	A	T	2: 89,582,971 (GRCm39)	M67K	possibly damaging	Het
Phlpp1	T	C	1: 106,100,209 (GRCm39)	L159P	probably benign	Het
Plekhh3	T	C	11: 101,056,482 (GRCm39)	E371G	probably damaging	Het
Rps6ka2	C	A	17: 7,495,377 (GRCm39)	D21E	probably benign	Het
Slc47a1	T	A	11: 61,235,280 (GRCm39)	M518L	probably benign	Het
Slitrk6	T	C	14: 110,987,974 (GRCm39)	T578A	probably benign	Het
Syne2	A	T	12: 75,974,205 (GRCm39)	K1133N	possibly damaging	Het
Taco1	T	C	11: 105,963,942 (GRCm39)	S234P	probably benign	Het
Trpv4	G	A	5: 114,771,263 (GRCm39)	S422F	probably damaging	Het
Tvp23b	T	A	11: 62,775,952 (GRCm39)	D97E	possibly damaging	Het
Vmn1r37	A	T	6: 66,708,523 (GRCm39)	I13L	probably benign	Het
Vrk2	T	A	11: 26,485,597 (GRCm39)	K130N	probably damaging	Het
Wdfy4	C	T	14: 32,681,923 (GRCm39)	R3016Q	probably damaging	Het
Zfp383	T	C	7: 29,614,380 (GRCm39)	S212P	probably benign	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
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'- GGCGATACATGGGCTTTTCC -3'
(R):5'- GCCTGTGTACAATGCGGAAG -3'

Sequencing Primer
(F):5'- CATGGGCTTTTCCAAATGAGC -3'
(R):5'- AAGTGGTGGCTGCCTACC -3'

Posted On

2018-11-28