Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Myh8'

55884

Institutional Source

Beutler Lab

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

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

MMRRC Submission

038779-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

R0589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67298627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1210 (I1210V)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625
AA Change: I1210V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: I1210V

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

noncoding transcript
Transcript: ENSMUST00000108686

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,942,268	A1202E	probably damaging	Het
Abcc12	A	T	8: 86,560,472	I155N	possibly damaging	Het
Atf4	T	A	15: 80,256,439	H47Q	probably damaging	Het
Atm	T	A	9: 53,490,192	D1459V	possibly damaging	Het
Bicral	A	G	17: 46,801,596	S893P	probably benign	Het
Camk2a	G	A	18: 60,963,964		probably null	Het
Cebpz	G	A	17: 78,936,879	T51I	probably damaging	Het
Cers5	A	T	15: 99,740,956	D208E	probably damaging	Het
Cyp1a2	T	C	9: 57,679,062	D391G	possibly damaging	Het
Dct	G	T	14: 118,043,270	F111L	probably benign	Het
Ddb1	T	G	19: 10,621,716	I529S	probably benign	Het
Dhx9	G	T	1: 153,472,291	Q361K	probably damaging	Het
Erbin	G	T	13: 103,886,287	R15S	probably damaging	Het
F13b	T	C	1: 139,506,933	S146P	possibly damaging	Het
Fam166b	T	C	4: 43,427,355		probably benign	Het
Fam208a	T	C	14: 27,461,150	I522T	probably benign	Het
Ggnbp2	A	T	11: 84,836,451	C520S	probably damaging	Het
Gpx3	A	G	11: 54,909,503	I208V	probably benign	Het
Grk3	A	G	5: 112,928,763		probably benign	Het
Heatr9	T	C	11: 83,514,690		probably benign	Het
Heg1	T	G	16: 33,731,707	I762R	probably damaging	Het
Ints11	A	T	4: 155,886,886	T264S	probably damaging	Het
Ints14	T	C	9: 64,979,831	L348P	probably damaging	Het
Marf1	C	A	16: 14,142,055		probably benign	Het
Med13	A	G	11: 86,283,249	Y1808H	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrpl45	A	T	11: 97,323,888	T134S	probably benign	Het
Nsd3	T	C	8: 25,641,287	S223P	probably damaging	Het
Olfr1105	A	T	2: 87,034,115	Y35*	probably null	Het
Olfr1220	A	G	2: 89,097,262	F222L	probably benign	Het
Olfr531	T	G	7: 140,400,900	S49R	possibly damaging	Het
P3h3	T	A	6: 124,841,681	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,146,474	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,299	V1250A	probably benign	Het
Pgbd1	G	A	13: 21,434,430	T19I	possibly damaging	Het
Phtf2	T	A	5: 20,813,251	R31*	probably null	Het
Plod2	T	A	9: 92,593,746	V294D	probably benign	Het
Rassf5	C	T	1: 131,244,983	G50R	probably damaging	Het
Rexo5	A	G	7: 119,845,383	T694A	probably benign	Het
Rtcb	A	C	10: 85,951,451	S82A	probably damaging	Het
Rufy4	T	C	1: 74,132,883	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,454,514	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,499,747		probably benign	Het
Sox10	T	G	15: 79,163,285		probably benign	Het
Stard9	A	G	2: 120,698,547	M1762V	probably benign	Het
Stat3	A	T	11: 100,908,083	Y94N	probably damaging	Het
Tecta	T	A	9: 42,345,634	Y1582F	probably benign	Het
Tex44	A	G	1: 86,427,731	D454G	probably damaging	Het
Tle6	A	G	10: 81,595,419		probably benign	Het
Tmem57	C	A	4: 134,828,217	C315F	probably benign	Het
Tmod2	T	C	9: 75,576,759	E303G	probably damaging	Het
Trem1	A	G	17: 48,237,217	D90G	possibly damaging	Het
Trhde	A	T	10: 114,448,324	D751E	probably benign	Het
Ttn	A	T	2: 76,965,245		probably null	Het
Vars2	T	C	17: 35,659,176	T774A	probably benign	Het
Wdr63	A	G	3: 146,062,331	S592P	probably benign	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
IGL03336:Myh8	APN	11	67284702	missense	probably damaging	1.00
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
BB003:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67294604	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67294604	missense	probably benign	0.00
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
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
R7921:Myh8	UTSW	11	67283818	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67294604	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67299760	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67303676	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67289821	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67299772	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67288266	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67292909	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67304336	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67283614	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67278915	missense	probably damaging	1.00
R8795:Myh8	UTSW	11	67283377	critical splice acceptor site	probably benign
R8858:Myh8	UTSW	11	67301994	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67283255	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67283255	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67299315	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67292434	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67286476	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67283806	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67306904	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67286389	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67286389	missense	probably benign	0.40
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
Z1187:Myh8	UTSW	11	67297486	missense	probably benign
Z1188:Myh8	UTSW	11	67297486	missense	probably benign
Z1190:Myh8	UTSW	11	67297486	missense	probably benign
Z1191:Myh8	UTSW	11	67297486	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTACGCGGTTGATTCCCAGG -3'
(R):5'- CCAGGTGTGATACCAGGAACAATGG -3'

Sequencing Primer
(F):5'- CTCCAGGGCCAAAGCAGAG -3'
(R):5'- GAACAATGGATACTGTTTTTCTGGC -3'

Posted On

2013-07-11