Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Myh7'

205636

Institutional Source

Beutler Lab

Gene Symbol

Myh7

Ensembl Gene

ENSMUSG00000053093

Gene Name

myosin, heavy polypeptide 7, cardiac muscle, beta

Synonyms

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

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54970684-54994626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54973180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1725 (N1725S)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085949] [ENSMUST00000102803] [ENSMUST00000168485]

AlphaFold

Q91Z83

Predicted Effect

probably benign
Transcript: ENSMUST00000085949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102803
AA Change: N1725S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: N1725S

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: ENSMUST00000104735

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168485
AA Change: N1725S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: N1725S

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: ENSMUST00000181782

SMART Domains

Protein: ENSMUSP00000137786
Gene: ENSMUSG00000097652

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
low complexity region	44	94	N/A	INTRINSIC
low complexity region	139	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227401

Meta Mutation Damage Score

0.0990

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041	C647F	probably damaging	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,689,261		probably null	Het
Adcy5	A	T	16: 35,248,940	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109		probably benign	Het
Ccnk	A	G	12: 108,195,074	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,496,741	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,381,301	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497		probably benign	Het
Gm10110	A	T	14: 89,897,836		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,619,728	Y134C	probably benign	Het
Ifi213	T	C	1: 173,589,600	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264	K470*	probably null	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957		probably benign	Het
Plekhh3	A	G	11: 101,163,600		probably benign	Het
Pnpt1	T	C	11: 29,154,342	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,837,981	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rgs14	T	C	13: 55,382,838		probably benign	Het
Rhbdf2	A	T	11: 116,600,191	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179		probably benign	Het
Sstr4	C	A	2: 148,395,533	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287	E259G	probably benign	Het
Thra	A	G	11: 98,756,143	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495		probably benign	Het
Ubac1	T	A	2: 26,007,738	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308		probably benign	Het
Uri1	A	T	7: 37,967,389	D206E	probably benign	Het
Utp4	A	G	8: 106,913,454	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233		probably null	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Myh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Myh7	APN	14	54987388	missense	probably damaging	1.00
IGL01025:Myh7	APN	14	54979537	missense	probably damaging	1.00
IGL01092:Myh7	APN	14	54971632	missense	possibly damaging	0.91
IGL01384:Myh7	APN	14	54971459	missense	probably damaging	1.00
IGL01457:Myh7	APN	14	54988879	missense	possibly damaging	0.66
IGL01671:Myh7	APN	14	54972924	missense	probably damaging	1.00
IGL01923:Myh7	APN	14	54985459	critical splice donor site	probably null
IGL02183:Myh7	APN	14	54974731	missense	probably benign
IGL02379:Myh7	APN	14	54979468	missense	probably damaging	1.00
IGL02884:Myh7	APN	14	54992819	missense	probably benign	0.26
IGL02898:Myh7	APN	14	54983740	missense	probably damaging	1.00
IGL03027:Myh7	APN	14	54983550	missense	probably damaging	1.00
IGL03061:Myh7	APN	14	54991204	unclassified	probably benign
IGL03145:Myh7	APN	14	54983345	missense	probably damaging	1.00
IGL03250:Myh7	APN	14	54992247	missense	probably damaging	1.00
IGL03394:Myh7	APN	14	54975361	missense	probably damaging	1.00
BB008:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
BB018:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R0019:Myh7	UTSW	14	54983734	missense	possibly damaging	0.91
R0030:Myh7	UTSW	14	54991970	missense	probably benign	0.00
R0183:Myh7	UTSW	14	54978876	missense	probably benign	0.02
R0230:Myh7	UTSW	14	54973933	missense	probably benign	0.03
R0295:Myh7	UTSW	14	54984821	splice site	probably benign
R0423:Myh7	UTSW	14	54979189	missense	probably benign	0.06
R0537:Myh7	UTSW	14	54990799	missense	possibly damaging	0.81
R0541:Myh7	UTSW	14	54974701	missense	probably benign
R0581:Myh7	UTSW	14	54985496	missense	probably benign	0.02
R0786:Myh7	UTSW	14	54992873	start codon destroyed	probably null
R0866:Myh7	UTSW	14	54973139	missense	probably benign
R1068:Myh7	UTSW	14	54987319	missense	possibly damaging	0.93
R1075:Myh7	UTSW	14	54987403	missense	probably benign
R1124:Myh7	UTSW	14	54973870	missense	possibly damaging	0.78
R1140:Myh7	UTSW	14	54972882	missense	probably damaging	1.00
R1260:Myh7	UTSW	14	54988451	missense	probably benign	0.00
R1653:Myh7	UTSW	14	54990789	missense	probably benign	0.00
R1677:Myh7	UTSW	14	54987516	missense	probably benign	0.17
R1760:Myh7	UTSW	14	54972713	missense	probably damaging	1.00
R1838:Myh7	UTSW	14	54973180	missense	possibly damaging	0.91
R2483:Myh7	UTSW	14	54973381	missense	probably damaging	0.99
R2566:Myh7	UTSW	14	54983242	missense	probably damaging	1.00
R3623:Myh7	UTSW	14	54973381	missense	probably damaging	0.99
R3916:Myh7	UTSW	14	54974046	missense	probably damaging	0.97
R4236:Myh7	UTSW	14	54991118	missense	probably benign	0.34
R4471:Myh7	UTSW	14	54991854	nonsense	probably null
R4700:Myh7	UTSW	14	54988321	missense	possibly damaging	0.85
R4805:Myh7	UTSW	14	54985133	missense	probably benign	0.27
R4880:Myh7	UTSW	14	54978588	missense	probably benign	0.18
R4975:Myh7	UTSW	14	54971671	missense	probably damaging	1.00
R4982:Myh7	UTSW	14	54972767	missense	probably damaging	0.98
R5004:Myh7	UTSW	14	54971683	missense	probably damaging	0.99
R5107:Myh7	UTSW	14	54986424	intron	probably benign
R5124:Myh7	UTSW	14	54985742	nonsense	probably null
R5256:Myh7	UTSW	14	54979508	missense	probably damaging	1.00
R5335:Myh7	UTSW	14	54986563	intron	probably benign
R5581:Myh7	UTSW	14	54978954	missense	probably benign	0.00
R5861:Myh7	UTSW	14	54988890	missense	possibly damaging	0.89
R5957:Myh7	UTSW	14	54989078	missense	probably damaging	1.00
R6027:Myh7	UTSW	14	54970802	missense	probably benign	0.01
R6184:Myh7	UTSW	14	54988858	missense	probably damaging	1.00
R6232:Myh7	UTSW	14	54989296	missense	probably benign	0.00
R6268:Myh7	UTSW	14	54989284	missense	probably benign	0.00
R6274:Myh7	UTSW	14	54979486	missense	probably damaging	0.97
R6345:Myh7	UTSW	14	54983692	missense	probably damaging	1.00
R6383:Myh7	UTSW	14	54988894	missense	probably benign	0.00
R6641:Myh7	UTSW	14	54982280	missense	probably benign	0.37
R6755:Myh7	UTSW	14	54992313	missense	possibly damaging	0.71
R6952:Myh7	UTSW	14	54991740	missense	probably damaging	1.00
R7025:Myh7	UTSW	14	54974644	nonsense	probably null
R7201:Myh7	UTSW	14	54990945	missense	possibly damaging	0.58
R7257:Myh7	UTSW	14	54972490	splice site	probably null
R7296:Myh7	UTSW	14	54990025	missense	probably benign	0.05
R7709:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7710:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7711:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7712:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7817:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7858:Myh7	UTSW	14	54990043	missense	probably benign	0.09
R7869:Myh7	UTSW	14	54989073	missense	probably damaging	0.99
R7870:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7887:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R7931:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R7936:Myh7	UTSW	14	54979463	missense	possibly damaging	0.93
R8056:Myh7	UTSW	14	54973319	nonsense	probably null
R8061:Myh7	UTSW	14	54990941	missense	probably benign
R8101:Myh7	UTSW	14	54973319	nonsense	probably null
R8202:Myh7	UTSW	14	54990040	missense	probably benign
R8504:Myh7	UTSW	14	54990329	missense	probably damaging	0.98
R8560:Myh7	UTSW	14	54975948	missense	possibly damaging	0.93
R8843:Myh7	UTSW	14	54975295	missense	probably damaging	0.98
R8903:Myh7	UTSW	14	54992771	nonsense	probably null
R8926:Myh7	UTSW	14	54985076	missense	probably benign	0.33
R8936:Myh7	UTSW	14	54990983	missense	probably benign	0.00
R9182:Myh7	UTSW	14	54988917	missense	probably damaging	1.00
R9260:Myh7	UTSW	14	54987385	missense	probably damaging	0.99
R9264:Myh7	UTSW	14	54975997	missense	probably benign	0.01
R9288:Myh7	UTSW	14	54985475	missense	probably benign	0.35
R9362:Myh7	UTSW	14	54985475	missense	probably benign	0.00
R9497:Myh7	UTSW	14	54980384	missense	probably benign	0.12
R9561:Myh7	UTSW	14	54978689	missense	probably damaging	1.00
R9663:Myh7	UTSW	14	54983641	missense	probably damaging	1.00
R9789:Myh7	UTSW	14	54991927	missense	possibly damaging	0.87
Z1192:Myh7	UTSW	14	54983291	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATGGTCTGCTCCATGTTC -3'
(R):5'- CAGGAGCTGATTGAGACCAG -3'

Sequencing Primer
(F):5'- TTCATGCGCTCCAGGTG -3'
(R):5'- CTGATTGAGACCAGCGAGC -3'

Posted On

2014-06-23