Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Myh7b'

426616

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155631034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1405 (Q1405P)

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: Q1405P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: Q1405P

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,698,974	S1219G	probably benign	Het
Adgrg5	T	A	8: 94,933,952	I73N	probably damaging	Het
Agmat	C	A	4: 141,755,833	H193N	probably damaging	Het
Ambn	T	C	5: 88,464,511		probably null	Het
Atp8b5	T	A	4: 43,366,644	C803S	probably benign	Het
BC005561	T	C	5: 104,519,646	I678T	probably damaging	Het
Btaf1	A	T	19: 36,951,107	R109S	probably benign	Het
Btnl6	C	T	17: 34,514,107	G261R	possibly damaging	Het
Cd163l1	A	T	7: 140,224,155	H422L	probably benign	Het
Clk3	A	G	9: 57,765,438	V27A	probably benign	Het
Clu	A	G	14: 65,975,602	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,352,773	F43L	probably benign	Het
Elf3	C	T	1: 135,255,040	E316K	probably damaging	Het
Epha5	A	T	5: 84,331,490	D218E	probably damaging	Het
Ereg	T	C	5: 91,074,807		probably null	Het
Ewsr1	A	G	11: 5,080,668		probably benign	Het
Fat4	A	G	3: 38,887,245	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,375,810	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,728,108		probably null	Het
Fn3k	C	A	11: 121,450,122	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,982,228	I2964V	probably benign	Het
Gbx1	C	T	5: 24,504,669	V393I	possibly damaging	Het
Gch1	C	T	14: 47,157,449	A187T	probably damaging	Het
Ghdc	C	A	11: 100,769,194	K242N	probably benign	Het
Ghrhr	A	G	6: 55,388,203	H394R	probably benign	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,465,228	S236R	probably benign	Het
Kcnj5	A	G	9: 32,317,705	Y66H	probably benign	Het
Kif15	T	A	9: 122,984,889		probably null	Het
Magi3	C	T	3: 104,051,368	C467Y	probably damaging	Het
Map7	G	T	10: 20,266,766	V303F	probably damaging	Het
Mapk11	A	G	15: 89,146,285	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,531,722		probably null	Het
Nalcn	A	T	14: 123,515,365	I328N	probably damaging	Het
Nprl2	C	A	9: 107,543,597	R144S	probably benign	Het
Ogfr	G	T	2: 180,595,274	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,595,275	D551V	probably benign	Het
Olfr250	A	T	9: 38,367,974	T143S	probably benign	Het
Olfr524	A	T	7: 140,202,392	V126E	probably damaging	Het
Parp14	T	C	16: 35,866,175	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,479,867	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,677,621	G303S	probably benign	Het
Plcl1	A	T	1: 55,697,384	Y628F	probably benign	Het
Ptpn9	T	A	9: 57,033,157	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,419,626	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,088,134	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,181,174	R218L	possibly damaging	Het
Serpine2	C	A	1: 79,816,875	V114L	probably benign	Het
Serpine2	T	C	1: 79,821,489	Y16C	probably benign	Het
Sgms1	G	T	19: 32,159,832	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,848,868	M1K	probably null	Het
Tcf12	A	T	9: 71,869,038	H403Q	probably damaging	Het
Thsd7b	T	C	1: 129,921,334	S928P	probably benign	Het
Tjp1	A	T	7: 65,302,967	F1540I	probably damaging	Het
Tph2	T	A	10: 115,079,764	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676	I2112V	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp335	T	C	2: 164,907,730	K249R	probably damaging	Het
Zfp54	C	A	17: 21,434,526	S427R	probably benign	Het
Zfp607b	A	G	7: 27,702,388	T90A	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
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
R8272:Myh7b	UTSW	2	155632904	missense	probably damaging	1.00
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
R9583:Myh7b	UTSW	2	155617721	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATGCCATCCAAAGGACG -3'
(R):5'- AAAGAGCTCTGTCCCCAGAC -3'

Sequencing Primer
(F):5'- CATCCAAAGGACGGAGGAGCTG -3'
(R):5'- TCTGTCCCCAGACCTCGAG -3'

Posted On

2016-09-01