Mutagenetix > Incidental Mutation

Incidental Mutation 'BB019:Myh8'

643083

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

BB019

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67294604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 894 (V894I)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625
AA Change: V894I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: V894I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,573,180	R666G	unknown	Het
Adam21	T	A	12: 81,560,164	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,845,969		probably benign	Het
Arhgef1	C	T	7: 24,919,710	L459F	probably damaging	Het
Bbx	A	T	16: 50,210,443		probably null	Het
Blk	C	T	14: 63,373,559	G445S	possibly damaging	Het
Brca1	T	C	11: 101,540,017	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,084,359	L513R	probably damaging	Het
Cnn3	T	A	3: 121,451,429	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,533	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,516,238	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,988,270	L182P	probably damaging	Het
Dock2	T	C	11: 34,267,998	M1191V	probably benign	Het
Fam13a	C	T	6: 58,983,888		probably null	Het
Fbn2	C	T	18: 58,020,483	G2569E	possibly damaging	Het
Fes	T	C	7: 80,379,872	I623V	probably damaging	Het
Fyco1	A	C	9: 123,828,990	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,930,335	V7E	possibly damaging	Het
Gm12169	C	A	11: 46,535,539	P158T	probably benign	Het
Gm19410	T	A	8: 35,795,599	C897S	probably damaging	Het
Hk1	A	G	10: 62,315,520	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,190,417	K261N	probably damaging	Het
Hrh4	T	A	18: 13,015,812	L77*	probably null	Het
Igf1r	A	T	7: 68,212,054	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,425,794	I24L	probably benign	Het
Itk	A	T	11: 46,340,692	W346R	probably benign	Het
Kdm2a	A	G	19: 4,319,156	S1144P	probably damaging	Het
Krt86	A	T	15: 101,476,592	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,222,916	I663V	probably benign	Het
Lrp2	T	G	2: 69,426,027	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,813,025	R434C	probably damaging	Het
Maneal	T	C	4: 124,861,845	Y108C	probably damaging	Het
Ncam2	T	G	16: 81,615,820	L732R	probably damaging	Het
Nsun4	A	T	4: 116,044,800	D156E	probably damaging	Het
Olfr111	T	C	17: 37,530,184	I69T	probably benign	Het
Olfr136	A	T	17: 38,335,255	I33L	probably benign	Het
Olfr1459	A	T	19: 13,145,981	M226K	probably benign	Het
Olfr382	A	C	11: 73,517,157	L14R	probably damaging	Het
Olfr419	T	C	1: 174,250,694	I78V	probably benign	Het
Olfr798	C	A	10: 129,625,225	V279F	probably damaging	Het
P2rx7	G	A	5: 122,644,182	V37I	probably benign	Het
Pcdh15	A	G	10: 74,645,527	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,663,460	S506P	probably damaging	Het
Pira2	A	T	7: 3,842,436		probably null	Het
Plch1	A	G	3: 63,701,981	V935A	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prpf8	A	G	11: 75,492,597	D607G	possibly damaging	Het
Ptdss1	T	C	13: 66,966,432	W215R	probably damaging	Het
Ptpn9	C	A	9: 57,036,616	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,821,350	V85A	possibly damaging	Het
Sacs	C	A	14: 61,204,878	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,531,550	S24T	probably benign	Het
Siae	A	G	9: 37,633,684	D325G	probably benign	Het
Slc22a23	C	A	13: 34,182,977	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,512,360	I244N	possibly damaging	Het
Srrm2	T	A	17: 23,818,527	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,551,786	Y207C	probably damaging	Het
Tnc	T	C	4: 64,008,620	I890V	probably benign	Het
Trim30a	A	T	7: 104,429,338	I177N	probably benign	Het
Tshz2	T	A	2: 169,886,331	M949K	possibly damaging	Het
Ttn	T	G	2: 76,725,186	T30492P	probably damaging	Het
Ubb	C	T	11: 62,552,785	Q214*	probably null	Het
Ulk2	A	G	11: 61,808,090	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,314,463	D149E	probably benign	Het
Zbtb24	A	G	10: 41,451,508	D130G	probably benign	Het
Zfp689	C	A	7: 127,444,351	G369V	probably damaging	Het
Zg16	A	G	7: 127,050,405	F128S	probably damaging	Het
Zmym1	T	G	4: 127,050,785	N203T	possibly 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
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
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
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'- ACTGGCCCTGGATGAAACTC -3'
(R):5'- CCCTGTGTAATGTAGAAGTAGCTG -3'

Sequencing Primer
(F):5'- GCCCTGGATGAAACTCTTCTTCAAG -3'
(R):5'- TCTTCCTCAACACACTATTGAAAGG -3'

Posted On

2020-08-01