Mutagenetix > Incidental Mutations

Incidental Mutation 'R7098:Myh8'

550650

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R7098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67279053 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 66 (T66K)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019625
AA Change: T66K

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: T66K

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
AA Change: T66K

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104325
Gene: ENSMUSG00000055775
AA Change: T66K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,646,522	M223K	probably benign	Het
Abce1	T	C	8: 79,686,049	T550A	probably benign	Het
Acoxl	C	T	2: 127,854,915	Q28*	probably null	Het
Adam8	T	C	7: 139,979,499	K820R	possibly damaging	Het
Adamts3	G	T	5: 89,861,495	A103D	probably damaging	Het
Apba2	T	A	7: 64,736,948	V441D	probably damaging	Het
Arap2	A	G	5: 62,675,950		probably null	Het
Arhgef10l	T	A	4: 140,580,911	M44L	probably benign	Het
Asb4	T	C	6: 5,398,499	C155R	probably damaging	Het
Bpifb6	A	T	2: 153,906,890	K269*	probably null	Het
Cc2d2a	A	T	5: 43,683,139	T161S	probably benign	Het
Ccdc15	T	A	9: 37,343,960	Q98L	probably damaging	Het
Col19a1	A	G	1: 24,526,474	S259P	unknown	Het
Col5a2	A	T	1: 45,380,067	D1284E	possibly damaging	Het
Cyp2c70	T	C	19: 40,180,487	T119A	probably benign	Het
Dennd6b	C	T	15: 89,188,687	C188Y	probably damaging	Het
Dhx8	T	A	11: 101,737,768		probably null	Het
Dhx9	T	C	1: 153,465,022	K624R	probably benign	Het
Dpys	C	T	15: 39,793,331	V447M	probably damaging	Het
E130308A19Rik	T	C	4: 59,753,004	S706P	possibly damaging	Het
Esrrb	A	G	12: 86,470,415	D107G	probably benign	Het
Fam71d	G	A	12: 78,719,634		probably null	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm136	T	C	4: 34,746,628	I128V	probably benign	Het
Gm6525	T	A	3: 84,175,002	C77S	possibly damaging	Het
Grid2ip	T	C	5: 143,357,591	F14S	probably damaging	Het
Hdhd3	C	T	4: 62,499,915	R8H	probably damaging	Het
Kdelr1	C	A	7: 45,874,056	A69D	possibly damaging	Het
Krtap16-3	T	A	16: 88,962,672	Y51F	unknown	Het
Lrrc40	T	A	3: 158,041,639	N129K	probably benign	Het
Man1b1	T	A	2: 25,338,184	D155E	probably damaging	Het
Mcm5	T	C	8: 75,120,901	V442A	probably damaging	Het
Mfsd14a	C	T	3: 116,641,712	A235T	probably benign	Het
Mmp1a	C	A	9: 7,475,937	T401K	probably benign	Het
Mpig6b	C	T	17: 35,064,344	R196Q	unknown	Het
Mroh1	C	T	15: 76,408,457	Q262*	probably null	Het
Msh3	A	T	13: 92,274,111	D656E	possibly damaging	Het
Muc4	A	T	16: 32,757,091	T252S		Het
Myh15	C	T	16: 49,177,057	A1746V	possibly damaging	Het
Nemf	A	T	12: 69,312,467	Y999N	probably damaging	Het
Neurod1	T	C	2: 79,454,685	N118S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,274	I134L	possibly damaging	Het
Nsun7	A	T	5: 66,260,983	I19F	probably damaging	Het
Ofcc1	A	G	13: 40,003,966		probably null	Het
P2rx7	A	G	5: 122,673,793	E389G	probably damaging	Het
Pam	C	T	1: 97,898,347	R194H	probably benign	Het
Pcnt	A	G	10: 76,384,839	S2052P	probably benign	Het
Pfkfb4	T	A	9: 108,999,154	Y86N	probably benign	Het
Plcd3	T	A	11: 103,077,863	D334V	probably damaging	Het
Ppard	T	C	17: 28,298,813	V285A	possibly damaging	Het
Prune2	A	G	19: 17,120,602	S1157G	probably benign	Het
Psg21	A	T	7: 18,652,545	L172H	probably damaging	Het
Psme4	C	A	11: 30,850,661	T1417K	probably damaging	Het
Ptprc	T	C	1: 138,099,685	D336G	probably benign	Het
Ralgapa1	A	T	12: 55,790,310		probably null	Het
Rap1gap	C	A	4: 137,716,082		probably null	Het
Scap	T	C	9: 110,372,242	S100P	possibly damaging	Het
Scpep1	T	C	11: 88,929,185	I426V	possibly damaging	Het
Sdk1	T	C	5: 142,096,870	I1341T	probably damaging	Het
Sfmbt2	T	A	2: 10,579,189	Y786N	probably benign	Het
Sh3tc1	A	T	5: 35,702,014		probably null	Het
Slc5a5	T	A	8: 70,888,538	I386F	probably damaging	Het
Smarca4	T	G	9: 21,634,820	M98R	probably benign	Het
St18	G	A	1: 6,827,842	D623N	probably damaging	Het
Sult2a1	A	T	7: 13,816,053		probably null	Het
Tgfb2	C	T	1: 186,630,637	R330H	probably damaging	Het
Thoc3	A	G	13: 54,466,306	I168T	probably damaging	Het
Tmem126a	C	T	7: 90,450,854	M160I	possibly damaging	Het
Tmem200b	C	T	4: 131,922,393	P208L	probably benign	Het
Tnrc6c	T	C	11: 117,714,126	V29A	probably benign	Het
Tsc1	C	T	2: 28,675,732	S465F	probably benign	Het
Ttll5	A	G	12: 85,917,673		probably null	Het
Unc13d	G	T	11: 116,063,726	L1019I	probably damaging	Het
Vmn2r102	A	T	17: 19,694,408	H745L	probably damaging	Het
Wars2	T	G	3: 99,216,641	S273A	probably damaging	Het
Xrcc6	C	A	15: 82,035,754	S498*	probably null	Het
Ybx1	A	T	4: 119,282,853	N92K	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
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
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
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
R8928:Myh8	UTSW	11	67283255	missense	probably benign	0.10
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'- TAAGTAGCAGCCATGAGTGCG -3'
(R):5'- AATTGATGAGTTGAATCCTGAGGG -3'

Sequencing Primer
(F):5'- AGCCATGAGTGCGGGTTC -3'
(R):5'- TGAGTTGAATCCTGAGGGAAGTAG -3'

Posted On

2019-05-15