Mutagenetix > Incidental Mutation

Incidental Mutation 'R5284:Myh7b'

402919

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

042841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5284 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155474234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1650 (T1650A)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041059] [ENSMUST00000092995] [ENSMUST00000103140]

AlphaFold

A2AQP0

Predicted Effect

probably benign
Transcript: ENSMUST00000041059

SMART Domains

Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	407	714	5.2e-135	PFAM
low complexity region	724	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: T1650A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: T1650A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	32	72	4.7e-14	PFAM
MYSc	78	786	N/A	SMART
IQ	787	809	2.6e0	SMART
Pfam:Myosin_tail_1	850	1931	5.5e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103140

SMART Domains

Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	399	710	1.1e-138	PFAM
low complexity region	716	727	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154656

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,630,483 (GRCm39)	Q1259L	probably benign	Het
Arhgef26	T	C	3: 62,327,052 (GRCm39)	S522P	probably damaging	Het
Asic5	C	T	3: 81,915,830 (GRCm39)	P218L	probably damaging	Het
Atad1	T	C	19: 32,664,671 (GRCm39)	M248V	probably benign	Het
Bank1	T	C	3: 135,769,915 (GRCm39)	D522G	probably damaging	Het
Bod1l	G	A	5: 41,977,810 (GRCm39)	S1168L	probably benign	Het
Cactin	A	G	10: 81,159,596 (GRCm39)	D51G	probably damaging	Het
Camkk1	A	G	11: 72,928,381 (GRCm39)	D261G	probably benign	Het
Cep152	A	G	2: 125,421,941 (GRCm39)	S930P	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crim1	A	T	17: 78,620,695 (GRCm39)	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,680,025 (GRCm39)		probably null	Het
Dhdds	A	G	4: 133,707,523 (GRCm39)	V187A	probably benign	Het
Ecpas	C	T	4: 58,836,172 (GRCm39)	E723K	possibly damaging	Het
Egfem1	A	G	3: 29,704,936 (GRCm39)	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,582,094 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,931,853 (GRCm39)	T581S	probably damaging	Het
Erg	C	T	16: 95,260,102 (GRCm39)	M1I	probably null	Het
Fastkd1	T	C	2: 69,542,532 (GRCm39)	T92A	probably benign	Het
Gabpb1	T	C	2: 126,494,277 (GRCm39)	H116R	possibly damaging	Het
Gucy2c	A	G	6: 136,740,041 (GRCm39)	L262P	possibly damaging	Het
Ifi203	C	T	1: 173,756,274 (GRCm39)		probably benign	Het
Kcnk13	A	C	12: 100,027,548 (GRCm39)	I208L	probably benign	Het
Klhl7	A	G	5: 24,364,615 (GRCm39)	T550A	probably benign	Het
Krtap12-1	G	T	10: 77,556,799 (GRCm39)	C114F	possibly damaging	Het
Myo19	T	A	11: 84,776,098 (GRCm39)		probably null	Het
Nav1	C	T	1: 135,377,701 (GRCm39)	W1656*	probably null	Het
Nup188	A	T	2: 30,220,647 (GRCm39)	S907C	probably damaging	Het
Oplah	A	T	15: 76,190,759 (GRCm39)	H125Q	probably benign	Het
Or6d12	T	A	6: 116,493,513 (GRCm39)	Y258*	probably null	Het
Pcnx1	A	T	12: 81,965,803 (GRCm39)	T657S	probably benign	Het
Phf14	C	A	6: 11,997,119 (GRCm39)	Q796K	probably damaging	Het
Plaa	T	C	4: 94,457,874 (GRCm39)	I699V	probably benign	Het
Prex2	C	A	1: 11,336,314 (GRCm39)	S1504*	probably null	Het
Prpf18	G	A	2: 4,650,481 (GRCm39)	Q50*	probably null	Het
Rnf213	A	G	11: 119,349,692 (GRCm39)	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,733 (GRCm39)	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,415,485 (GRCm39)	S487P	probably damaging	Het
Setdb1	G	T	3: 95,234,881 (GRCm39)	R941S	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Smg8	G	A	11: 86,971,137 (GRCm39)	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,187,368 (GRCm39)	V440E	probably damaging	Het
Tsen15	A	G	1: 152,247,624 (GRCm39)	S123P	probably damaging	Het
Tspan12	G	T	6: 21,835,466 (GRCm39)	A69D	probably damaging	Het
Ubiad1	G	A	4: 148,520,955 (GRCm39)	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,320,741 (GRCm39)	K90*	probably null	Het
Wdr19	C	T	5: 65,382,752 (GRCm39)	T492I	probably damaging	Het
Zfp423	C	T	8: 88,508,305 (GRCm39)	D659N	possibly damaging	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155,472,212 (GRCm39)	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155,474,327 (GRCm39)	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155,456,411 (GRCm39)	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155,467,609 (GRCm39)	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155,467,643 (GRCm39)	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155,470,747 (GRCm39)	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155,467,874 (GRCm39)	missense	possibly damaging	0.95
IGL02956:Myh7b	APN	2	155,474,823 (GRCm39)	missense	probably damaging	1.00
IGL02992:Myh7b	APN	2	155,463,330 (GRCm39)	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155,474,671 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155,462,031 (GRCm39)	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155,462,403 (GRCm39)	nonsense	probably null
IGL03246:Myh7b	APN	2	155,459,792 (GRCm39)	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155,465,399 (GRCm39)	missense	probably damaging	1.00
euclidian	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
imaginary	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
Irrational	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
Muscoli	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155,453,594 (GRCm39)	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
R0567:Myh7b	UTSW	2	155,468,318 (GRCm39)	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155,453,642 (GRCm39)	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155,462,040 (GRCm39)	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0974:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R1137:Myh7b	UTSW	2	155,464,634 (GRCm39)	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155,463,003 (GRCm39)	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155,455,966 (GRCm39)	nonsense	probably null
R1537:Myh7b	UTSW	2	155,473,707 (GRCm39)	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155,462,445 (GRCm39)	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155,455,113 (GRCm39)	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155,462,054 (GRCm39)	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155,472,778 (GRCm39)	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155,471,377 (GRCm39)	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155,462,043 (GRCm39)	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155,474,909 (GRCm39)	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155,460,678 (GRCm39)	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155,472,434 (GRCm39)	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155,456,097 (GRCm39)	missense	probably damaging	1.00
R4697:Myh7b	UTSW	2	155,471,242 (GRCm39)	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155,468,314 (GRCm39)	nonsense	probably null
R4794:Myh7b	UTSW	2	155,465,186 (GRCm39)	missense	probably benign	0.00
R4842:Myh7b	UTSW	2	155,475,909 (GRCm39)	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155,455,420 (GRCm39)	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155,473,670 (GRCm39)	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5422:Myh7b	UTSW	2	155,472,954 (GRCm39)	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155,474,592 (GRCm39)	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155,463,315 (GRCm39)	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155,464,409 (GRCm39)	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155,460,663 (GRCm39)	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155,473,719 (GRCm39)	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155,474,316 (GRCm39)	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155,470,680 (GRCm39)	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155,470,563 (GRCm39)	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R6896:Myh7b	UTSW	2	155,464,488 (GRCm39)	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155,464,152 (GRCm39)	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155,473,671 (GRCm39)	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155,456,053 (GRCm39)	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155,464,119 (GRCm39)	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155,464,106 (GRCm39)	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155,460,660 (GRCm39)	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155,474,460 (GRCm39)	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155,474,156 (GRCm39)	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155,459,698 (GRCm39)	splice site	probably null
R7703:Myh7b	UTSW	2	155,462,356 (GRCm39)	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155,462,323 (GRCm39)	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign
R7967:Myh7b	UTSW	2	155,456,119 (GRCm39)	splice site	probably null
R8045:Myh7b	UTSW	2	155,455,101 (GRCm39)	missense	probably benign	0.00
R8176:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign	0.06
R8272:Myh7b	UTSW	2	155,474,824 (GRCm39)	missense	probably damaging	1.00
R8560:Myh7b	UTSW	2	155,465,124 (GRCm39)	missense	possibly damaging	0.93
R8706:Myh7b	UTSW	2	155,453,669 (GRCm39)	critical splice donor site	probably null
R8824:Myh7b	UTSW	2	155,472,301 (GRCm39)	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155,475,182 (GRCm39)	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155,465,174 (GRCm39)	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155,474,439 (GRCm39)	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155,463,253 (GRCm39)	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155,470,722 (GRCm39)	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155,463,268 (GRCm39)	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155,472,983 (GRCm39)	missense	probably benign	0.28
R9583:Myh7b	UTSW	2	155,459,641 (GRCm39)	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155,473,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTACTCCATTCCTGTGGG -3'
(R):5'- AATGCAGTAGGTTGAGGCGC -3'

Sequencing Primer
(F):5'- ACTCCATTCCTGTGGGCCAAG -3'
(R):5'- GTGGCCTCCAGCAGCTC -3'

Posted On

2016-07-22