Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03336:Myh8'

417026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

Myhsp, 4832426G23Rik, MyHC-pn, Myhs-p

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67284702 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 328 (D328Y)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019625] [ENSMUST00000108685]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019625
AA Change: D328Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: D328Y

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	76	2.1e-13	PFAM
MYSc	82	782	N/A	SMART
IQ	783	805	5.44e-3	SMART
Pfam:Myosin_tail_1	846	1927	2.4e-164	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108685

SMART Domains

Protein: ENSMUSP00000104325
Gene: ENSMUSG00000055775

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	78	3.8e-17	PFAM
Pfam:Myosin_head	90	172	1.7e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139052

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 60,016,402	V63A	probably benign	Het
Ankrd11	A	G	8: 122,891,843	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,729,807	Y629*	probably null	Het
Cenpf	T	C	1: 189,652,647	K2479E	probably damaging	Het
Clip1	G	T	5: 123,653,570	S179*	probably null	Het
Cmya5	A	G	13: 93,093,505	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,035	S119G	probably benign	Het
Fndc5	T	C	4: 129,139,918	F160L	probably benign	Het
Muc5b	T	C	7: 141,864,363	V3682A	probably damaging	Het
Olfr1226	T	C	2: 89,193,897	T46A	probably benign	Het
Olfr566	C	T	7: 102,856,616	C222Y	probably benign	Het
Olfr633	T	C	7: 103,947,409	L281P	probably damaging	Het
Olfr713	T	A	7: 107,036,335	M60K	probably damaging	Het
Olfr772	T	C	10: 129,174,229	E264G	probably benign	Het
Paxbp1	T	C	16: 91,034,172	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,302,961	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,615,932	D32G	probably damaging	Het
Pdzph1	A	T	17: 58,974,234	V351D	probably benign	Het
Ribc2	C	T	15: 85,132,913	Q51*	probably null	Het
Scn2a	A	G	2: 65,688,744	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,462,828		probably benign	Het
Slc5a1	G	A	5: 33,146,943	V296I	probably benign	Het
Slit3	A	T	11: 35,670,101	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114		probably benign	Het
Susd3	A	C	13: 49,238,782	S144R	probably benign	Het
Synpo2	T	C	3: 123,114,179	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,439,131	T269A	probably benign	Het
Tmem156	A	G	5: 65,075,764	Y152H	probably benign	Het
Tmem247	A	G	17: 86,918,429	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,619,724	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,951,642	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,737,527	Y98C	probably damaging	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67283818	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67283403	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67297780	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67301973	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67283596	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67292679	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67288379	splice site	probably benign
IGL01473:Myh8	APN	11	67301825	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67301710	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67286419	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67303826	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67289694	nonsense	probably null
IGL01905:Myh8	APN	11	67284651	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67283372	unclassified	probably benign
IGL02386:Myh8	APN	11	67294440	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67294614	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67305710	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67297501	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67301592	splice site	probably benign
IGL03063:Myh8	APN	11	67288205	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67283818	missense	probably damaging	0.97
IGL03338:Myh8	APN	11	67298346	missense	probably damaging	1.00
IGL03351:Myh8	APN	11	67303913	missense	possibly damaging	0.94
IGL03392:Myh8	APN	11	67294418	missense	probably damaging	1.00
PIT4354001:Myh8	UTSW	11	67289630	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67300021	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67298525	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67298525	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67306264	splice site	probably benign
R0131:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67306017	splice site	probably benign
R0453:Myh8	UTSW	11	67292905	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67303765	nonsense	probably null
R0466:Myh8	UTSW	11	67298579	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67302011	missense	probably benign
R0511:Myh8	UTSW	11	67284507	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67301798	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67298627	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67284532	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67289754	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67283500	unclassified	probably benign
R0845:Myh8	UTSW	11	67286264	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67305998	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67297759	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67297131	nonsense	probably null
R1417:Myh8	UTSW	11	67306185	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67292725	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67289812	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67301671	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67280138	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67279004	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67292724	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67297164	nonsense	probably null
R2095:Myh8	UTSW	11	67286224	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67292876	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67294469	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67308348	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67286239	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67294518	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67303897	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67297264	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67301918	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67284617	unclassified	probably benign
R3924:Myh8	UTSW	11	67297137	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67292421	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67299734	missense	probably benign
R4621:Myh8	UTSW	11	67286258	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67286258	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67279963	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67292684	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67305916	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67298358	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67288353	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67284484	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67286263	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67301418	missense	possibly damaging	0.59
R5523:Myh8	UTSW	11	67305962	missense	possibly damaging	0.95
R5540:Myh8	UTSW	11	67286440	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67294566	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67297200	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67297500	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67301967	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67299341	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67298579	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67292449	missense	probably benign	0.27
R6452:Myh8	UTSW	11	67305739	missense	possibly damaging	0.88
R6512:Myh8	UTSW	11	67289662	nonsense	probably null
R6714:Myh8	UTSW	11	67306949	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67284655	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67288316	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67297539	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67292627	splice site	probably null
R7098:Myh8	UTSW	11	67279053	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67283437	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67298652	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67303655	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67303712	missense	possibly damaging	0.94
R8003:Myh8	UTSW	11	67299760	missense	probably damaging	1.00
T0722:Myh8	UTSW	11	67304436	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67298592	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67303674	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67301424	missense	probably damaging	0.99
Z1177:Myh8	UTSW	11	67308355	missense	possibly damaging	0.64

Posted On

2016-08-02