Mutagenetix > Incidental Mutation

Incidental Mutation 'R8215:Myh3'

636382

Institutional Source

Beutler Lab

Gene Symbol

Myh3

Ensembl Gene

ENSMUSG00000020908

Gene Name

myosin, heavy polypeptide 3, skeletal muscle, embryonic

Synonyms

Myhse, Myhs-e, MyHC-emb

MMRRC Submission

067657-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R8215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67078300-67102291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67101179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1850 (E1850G)

Ref Sequence

ENSEMBL: ENSMUSP00000007301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]

AlphaFold

P13541

Predicted Effect

probably damaging
Transcript: ENSMUST00000007301
AA Change: E1850G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: E1850G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108689
AA Change: E1850G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: E1850G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165221
AA Change: E1850G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: E1850G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	2.2e-13	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
Pfam:Myosin_tail_1	844	1925	2.1e-164	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.8%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 82,065,100	R1066L	probably benign	Het
Abca14	A	C	7: 120,294,202	I1292L	probably benign	Het
Adamtsl1	T	G	4: 86,343,145	F1206V	probably benign	Het
Agl	T	C	3: 116,788,644	H243R	probably damaging	Het
Btn2a2	A	C	13: 23,481,870	L264R	probably damaging	Het
Ccdc33	A	T	9: 58,032,712	S749T	probably benign	Het
Cd55b	CTTTT	CTTTTT	1: 130,419,600		probably null	Het
Cdh8	A	G	8: 99,030,866	I700T	possibly damaging	Het
Cfap65	A	G	1: 74,910,743	L1201P	probably damaging	Het
Chsy3	C	T	18: 59,175,869	Q65*	probably null	Het
Clic5	T	A	17: 44,275,341	L239*	probably null	Het
Corin	T	C	5: 72,305,018	D957G	probably damaging	Het
Cped1	A	T	6: 22,132,278	Y486F	probably damaging	Het
Csnk1g3	C	T	18: 53,948,079	T374M	probably benign	Het
D930020B18Rik	T	A	10: 121,667,524	C201*	probably null	Het
Dnah2	A	G	11: 69,435,367	F3653L	probably damaging	Het
F11r	GGTGTG	GGTGTGTG	1: 171,463,088		probably null	Het
Foxj3	T	G	4: 119,621,611	S455R	unknown	Het
Gcnt3	T	C	9: 70,034,173	D371G	probably damaging	Het
Gm10837	A	G	14: 122,490,781	E23G	unknown	Het
Gm38394	G	T	1: 133,658,792	A269E	probably damaging	Het
Gm5346	T	A	8: 43,626,501	T229S	probably benign	Het
Hivep3	T	C	4: 120,122,901	V1712A	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hoxa2	A	G	6: 52,163,061	V315A	probably damaging	Het
Irx5	A	T	8: 92,359,613	Y108F	possibly damaging	Het
Itsn1	T	C	16: 91,812,108	I248T	probably damaging	Het
Kcnb1	T	C	2: 167,104,441	K829R	probably benign	Het
Klhl17	A	G	4: 156,230,053	V635A	unknown	Het
Krr1	C	T	10: 111,979,929	R234*	probably null	Het
Lrrc7	A	T	3: 158,209,750	D209E	probably benign	Het
Mcm2	T	C	6: 88,897,311	E71G	probably damaging	Het
Mroh5	C	A	15: 73,819,290	K10N	probably damaging	Het
Nedd9	T	C	13: 41,338,843	I64V	probably benign	Het
Nisch	A	G	14: 31,186,701	S456P	possibly damaging	Het
Nrcam	T	C	12: 44,564,113	V532A	probably benign	Het
Olfr1048	C	T	2: 86,236,518	V106M	probably benign	Het
Olfr470	T	G	7: 107,844,917	D272A	probably damaging	Het
Olfr639	T	C	7: 104,012,123	D193G	possibly damaging	Het
Olfr851	T	C	9: 19,497,500	F251L	probably damaging	Het
Plekhg1	C	T	10: 3,957,521	P868S		Het
Ptf1a	A	G	2: 19,445,949	Q30R	possibly damaging	Het
Ptgs1	G	T	2: 36,251,167	C542F	probably damaging	Het
Rere	T	A	4: 150,616,967	M1268K	possibly damaging	Het
Rp1	A	G	1: 4,245,095	F485L	unknown	Het
Samd14	A	T	11: 95,014,387	E8D	probably benign	Het
Serpinh1	A	G	7: 99,346,338	Y346H	possibly damaging	Het
Shq1	A	T	6: 100,671,060	M1K	probably null	Het
Tfrc	T	C	16: 32,625,030	S551P	probably damaging	Het
Tnr	A	C	1: 159,888,290	N874T	possibly damaging	Het
Trak1	C	A	9: 121,469,030	T667N	probably damaging	Het
Trpv2	A	C	11: 62,590,931	T423P	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Vmn2r24	A	G	6: 123,779,118	T50A	probably benign	Het
Xirp2	T	A	2: 67,516,509	D3031E	probably benign	Het
Zbtb4	A	C	11: 69,778,772	I774L	probably benign	Het
Zfhx3	A	G	8: 108,950,717	T2800A	probably benign	Het
Zfp651	T	C	9: 121,767,278	S604P	probably benign	Het

Other mutations in Myh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myh3	APN	11	67090855	missense	probably damaging	1.00
IGL01989:Myh3	APN	11	67086655	missense	probably damaging	1.00
IGL02097:Myh3	APN	11	67082924	missense	probably benign
IGL02197:Myh3	APN	11	67098583	missense	probably benign	0.05
IGL02458:Myh3	APN	11	67096940	missense	possibly damaging	0.87
IGL02526:Myh3	APN	11	67087545	missense	probably benign	0.01
IGL02559:Myh3	APN	11	67101095	missense	possibly damaging	0.94
IGL02600:Myh3	APN	11	67083401	missense	probably damaging	1.00
IGL02866:Myh3	APN	11	67089023	missense	probably benign	0.08
IGL02943:Myh3	APN	11	67091065	missense	probably benign	0.02
IGL03087:Myh3	APN	11	67090972	missense	probably damaging	1.00
IGL03131:Myh3	APN	11	67091109	splice site	probably benign
bud	UTSW	11	67096007	critical splice acceptor site	probably null
R0049:Myh3	UTSW	11	67099672	missense	probably damaging	1.00
R0157:Myh3	UTSW	11	67082909	missense	probably benign	0.00
R0266:Myh3	UTSW	11	67093672	missense	possibly damaging	0.73
R0352:Myh3	UTSW	11	67090428	missense	possibly damaging	0.79
R0391:Myh3	UTSW	11	67096507	splice site	probably benign
R0926:Myh3	UTSW	11	67090514	splice site	probably null
R1243:Myh3	UTSW	11	67090453	missense	possibly damaging	0.80
R1344:Myh3	UTSW	11	67092332	missense	probably benign	0.03
R1414:Myh3	UTSW	11	67098665	missense	probably damaging	0.98
R1442:Myh3	UTSW	11	67087277	missense	possibly damaging	0.77
R1470:Myh3	UTSW	11	67098059	splice site	probably benign
R1480:Myh3	UTSW	11	67093545	missense	possibly damaging	0.88
R1598:Myh3	UTSW	11	67093171	missense	probably damaging	1.00
R1620:Myh3	UTSW	11	67088736	splice site	probably benign
R1682:Myh3	UTSW	11	67089065	missense	probably damaging	1.00
R1759:Myh3	UTSW	11	67096891	missense	probably damaging	0.98
R1772:Myh3	UTSW	11	67099394	missense	probably benign	0.32
R1868:Myh3	UTSW	11	67085026	missense	probably benign	0.34
R1874:Myh3	UTSW	11	67093179	missense	probably benign	0.03
R1885:Myh3	UTSW	11	67086627	missense	probably benign	0.23
R1923:Myh3	UTSW	11	67080002	missense	probably benign	0.00
R2145:Myh3	UTSW	11	67091056	missense	probably benign
R3973:Myh3	UTSW	11	67096436	nonsense	probably null
R4410:Myh3	UTSW	11	67085032	missense	possibly damaging	0.71
R4583:Myh3	UTSW	11	67096453	nonsense	probably null
R4650:Myh3	UTSW	11	67086444	missense	probably damaging	1.00
R4822:Myh3	UTSW	11	67089010	missense	probably benign
R4836:Myh3	UTSW	11	67096939	missense	probably benign	0.01
R4898:Myh3	UTSW	11	67099407	missense	probably benign	0.05
R4946:Myh3	UTSW	11	67093538	missense	probably benign
R5506:Myh3	UTSW	11	67084089	missense	probably damaging	1.00
R5534:Myh3	UTSW	11	67097044	missense	probably damaging	1.00
R5733:Myh3	UTSW	11	67088619	missense	probably benign	0.24
R5889:Myh3	UTSW	11	67086375	missense	probably damaging	1.00
R6056:Myh3	UTSW	11	67087545	missense	probably benign	0.01
R6223:Myh3	UTSW	11	67098017	missense	probably benign
R6228:Myh3	UTSW	11	67087486	missense	probably benign	0.17
R6341:Myh3	UTSW	11	67082996	missense	probably benign	0.00
R6434:Myh3	UTSW	11	67082367	missense	probably damaging	1.00
R6533:Myh3	UTSW	11	67090419	missense	probably damaging	0.96
R6812:Myh3	UTSW	11	67086402	missense	probably damaging	0.99
R7336:Myh3	UTSW	11	67091021	missense	probably benign	0.13
R7354:Myh3	UTSW	11	67096882	missense	probably damaging	1.00
R7498:Myh3	UTSW	11	67097048	missense	possibly damaging	0.96
R7532:Myh3	UTSW	11	67091095	missense	probably benign
R7841:Myh3	UTSW	11	67098692	missense	probably damaging	1.00
R7878:Myh3	UTSW	11	67087251	missense	probably damaging	1.00
R8169:Myh3	UTSW	11	67089030	missense	probably benign	0.06
R8194:Myh3	UTSW	11	67092002	missense	probably damaging	1.00
R8240:Myh3	UTSW	11	67092370	missense	probably benign	0.01
R8255:Myh3	UTSW	11	67095022	missense	probably damaging	1.00
R8310:Myh3	UTSW	11	67096007	critical splice acceptor site	probably null
R9103:Myh3	UTSW	11	67098625	missense	probably benign	0.01
R9249:Myh3	UTSW	11	67085029	missense	probably benign	0.12
R9307:Myh3	UTSW	11	67093571	missense	possibly damaging	0.57
R9430:Myh3	UTSW	11	67091900	missense	possibly damaging	0.94
R9529:Myh3	UTSW	11	67088730	critical splice donor site	probably null
R9558:Myh3	UTSW	11	67092490	missense	possibly damaging	0.89
R9565:Myh3	UTSW	11	67092361	nonsense	probably null
R9691:Myh3	UTSW	11	67101095	missense	possibly damaging	0.94
R9790:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
R9791:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
RF009:Myh3	UTSW	11	67086355	frame shift	probably null
RF009:Myh3	UTSW	11	67086356	frame shift	probably null
RF009:Myh3	UTSW	11	67086357	frame shift	probably null
RF010:Myh3	UTSW	11	67086356	frame shift	probably null
RF010:Myh3	UTSW	11	67086359	frame shift	probably null
RF013:Myh3	UTSW	11	67086356	frame shift	probably null
RF015:Myh3	UTSW	11	67086356	frame shift	probably null
X0060:Myh3	UTSW	11	67094998	missense	probably benign	0.00
X0062:Myh3	UTSW	11	67089116	missense	probably benign	0.03
Z1176:Myh3	UTSW	11	67082415	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AAACTGGAGACACGGGTACC -3'
(R):5'- AGTTTATCCACCAGATCCTGC -3'

Sequencing Primer
(F):5'- CTGGAGACACGGGTACCTGATG -3'
(R):5'- CCCATTCCAAGCTTTGAG -3'

Posted On

2020-07-13