Mutagenetix > Incidental Mutations

Incidental Mutation 'R8272:Myh7b'

637763

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8272 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155632904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1787 (E1787D)

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 damaging
Transcript: ENSMUST00000092995
AA Change: E1787D

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

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: E1787D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 104,026,154	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,931,397	E90*	probably null	Het
Abca15	A	G	7: 120,407,442	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,816,154	A123D	probably damaging	Het
Asmt	A	T	X: 170,672,725	D20V	possibly damaging	Het
BC067074	A	T	13: 113,368,355	D1979V		Het
Bid	T	C	6: 120,900,215	E55G	probably damaging	Het
Brd3	A	G	2: 27,461,713	V176A	probably benign	Het
Btnl2	G	T	17: 34,356,301		probably null	Het
Card11	A	G	5: 140,890,039	S562P	probably damaging	Het
Casp8	T	G	1: 58,833,742	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064	R157H	probably damaging	Het
Cfap45	G	A	1: 172,527,839	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,103,736	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175	P333L	possibly damaging	Het
Ctnna3	T	G	10: 65,002,598	V818G	probably damaging	Het
Cyp4f18	G	T	8: 71,989,091	L456M	probably benign	Het
Ddx50	A	G	10: 62,621,477	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,851,754	Q91K	probably benign	Het
Dnah11	T	A	12: 118,111,017	T1367S	probably benign	Het
Fam98b	T	A	2: 117,262,854	C183S	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,559,760	S194A	probably benign	Het
Flrt3	G	T	2: 140,660,697	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,723,946	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,304,524	T677A	probably benign	Het
Grm8	A	T	6: 27,363,282	S745T	probably damaging	Het
Kctd8	T	C	5: 69,110,460	K436E	probably benign	Het
Klf5	G	T	14: 99,302,104	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,303,668	V505M	unknown	Het
Letm2	A	G	8: 25,586,656	L310P	probably damaging	Het
Lrrc16a	T	G	13: 24,036,579	H1054P	probably benign	Het
Lrrc4	T	C	6: 28,662,193	H174R	unknown	Het
Myh11	T	C	16: 14,218,854	S995G		Het
Myoc	T	C	1: 162,639,426	S55P	probably benign	Het
Naaladl2	T	C	3: 24,058,202	Q572R	probably damaging	Het
Nanog	T	A	6: 122,711,777	S131T	probably benign	Het
Nifk	A	G	1: 118,332,404	K230E	probably benign	Het
Nlrp10	A	G	7: 108,925,896	S126P	probably benign	Het
Npc1l1	T	A	11: 6,229,327	K28*	probably null	Het
Olfr1454	G	A	19: 13,063,431	V7M	possibly damaging	Het
Olfr451-ps1	A	G	6: 42,801,104	D121G	probably damaging	Het
Pcdhac2	T	A	18: 37,146,189	C741S	probably benign	Het
Pcx	A	T	19: 4,601,730	N45I	probably damaging	Het
Peak1	A	G	9: 56,258,898	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,516,736	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,688,530	A726V	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,209,105	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,057,189	K570R	probably benign	Het
Serpinb1a	A	T	13: 32,845,737	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,228,816	L1076S	probably damaging	Het
Sspo	A	T	6: 48,448,519	T25S	probably benign	Het
Syvn1	G	A	19: 6,047,941	R3H	probably damaging	Het
Tead2	A	G	7: 45,228,742	E280G	probably benign	Het
Tmem263	T	A	10: 85,114,567	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,125,860	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,282,265	E62V	probably benign	Het
Trim27	G	A	13: 21,180,610	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,596,228	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,350,078	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,947,609	F79L	probably benign	Het
Vps13a	A	G	19: 16,749,845		probably null	Het
Zdbf2	A	G	1: 63,305,983	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,243,867	S718A	probably damaging	Het
Zfp78	A	G	7: 6,373,214	T41A	probably benign	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155630292	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155632407	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155614491	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155625689	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155625723	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155628827	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155632903	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155625954	missense	possibly damaging	0.95
IGL02992:Myh7b	APN	2	155621410	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155632751	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155620111	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155620483	nonsense	probably null
IGL03246:Myh7b	APN	2	155617872	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155623479	missense	probably damaging	1.00
euclidian	UTSW	2	155633399	missense	probably benign	0.32
imaginary	UTSW	2	155632255	missense	probably benign	0.36
Irrational	UTSW	2	155630672	unclassified	probably benign
Muscoli	UTSW	2	155620118	nonsense	probably null
R0015:Myh7b	UTSW	2	155622286	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155622286	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155611674	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155630672	unclassified	probably benign
R0567:Myh7b	UTSW	2	155626398	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155611722	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155620120	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155620427	missense	probably benign
R0973:Myh7b	UTSW	2	155620427	missense	probably benign
R0974:Myh7b	UTSW	2	155620427	missense	probably benign
R1137:Myh7b	UTSW	2	155622714	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155621083	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155614046	nonsense	probably null
R1537:Myh7b	UTSW	2	155631787	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155620525	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155613193	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155620134	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155625672	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155630858	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155625672	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155629457	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155620123	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155632255	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155632989	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155618758	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155633399	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155630514	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155614177	missense	probably damaging	1.00
R4697:Myh7b	UTSW	2	155629322	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155626394	nonsense	probably null
R4794:Myh7b	UTSW	2	155623266	missense	probably benign	0.00
R4842:Myh7b	UTSW	2	155633989	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155613500	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155631750	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5284:Myh7b	UTSW	2	155632314	missense	probably benign
R5422:Myh7b	UTSW	2	155631034	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155632672	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155621395	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155622489	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155618743	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155631799	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155632396	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155628760	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155628643	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155620118	nonsense	probably null
R6896:Myh7b	UTSW	2	155622568	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155622232	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155631751	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155614133	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155622199	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155622186	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155618740	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155632540	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155632236	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155617778	splice site	probably null
R7703:Myh7b	UTSW	2	155620436	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155620403	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155625966	missense	probably benign
R7967:Myh7b	UTSW	2	155614199	splice site	probably null
R8045:Myh7b	UTSW	2	155613181	missense	probably benign	0.00
R8176:Myh7b	UTSW	2	155625966	missense	probably benign	0.06
R8560:Myh7b	UTSW	2	155623204	missense	possibly damaging	0.93
R8706:Myh7b	UTSW	2	155611749	critical splice donor site	probably null
R8824:Myh7b	UTSW	2	155630381	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155633262	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155623254	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155632519	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155621333	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155628802	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155621348	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155631063	missense	probably benign	0.28
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATGCGCCAAAGATGTTAC -3'
(R):5'- TGGTACACGAGCTCCTTGAC -3'

Sequencing Primer
(F):5'- ACTTGGCCCAGCTGAGTG -3'
(R):5'- GTTTACGCACCCCCTTGAGG -3'

Posted On

2020-07-28