Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Myh3'

343848

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

041804-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67078300-67102291 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 67096453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1376 (Y1376*)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

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

AlphaFold

P13541

Predicted Effect

probably null
Transcript: ENSMUST00000007301
AA Change: Y1376*

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: Y1376*

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 null
Transcript: ENSMUST00000108689
AA Change: Y1376*

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: Y1376*

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 null
Transcript: ENSMUST00000165221
AA Change: Y1376*

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: Y1376*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184592

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,574,592	L86P	unknown	Het
Aimp1	C	T	3: 132,677,047	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,397,779	N884I	probably benign	Het
Apoe	G	T	7: 19,697,498	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,912,571	D93E	probably benign	Het
Arhgef12	G	T	9: 42,977,662	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,317,664		probably null	Het
Atp9a	A	T	2: 168,689,360		probably null	Het
Baz1a	T	C	12: 54,922,540	I635V	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Cckar	T	A	5: 53,699,782	M429L	probably benign	Het
Ccl3	A	T	11: 83,648,338	L65Q	probably benign	Het
Ccr3	A	G	9: 124,029,440	T271A	probably benign	Het
Cd8b1	T	A	6: 71,326,097	I52N	probably damaging	Het
Cdh15	G	A	8: 122,865,028	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466	K719R	probably benign	Het
Cfap43	T	C	19: 47,837,216	R38G	probably null	Het
Chd6	T	C	2: 161,014,194	E715G	probably damaging	Het
Cldn34b2	T	A	X: 155,125,629	R68*	probably null	Het
Col19a1	T	G	1: 24,561,329	D44A	unknown	Het
Colgalt2	C	T	1: 152,506,876	S493F	probably damaging	Het
Cr1l	T	C	1: 195,129,831	I99M	probably damaging	Het
Crybg1	T	C	10: 43,997,620	E1164G	probably damaging	Het
Cym	G	T	3: 107,211,402	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,522,842	T263K	probably damaging	Het
Dhx9	T	A	1: 153,460,303	M869L	probably damaging	Het
Dnm2	A	G	9: 21,504,446	H692R	probably damaging	Het
Ern1	A	T	11: 106,407,205	S697T	probably damaging	Het
F12	G	A	13: 55,421,130	T273I	probably benign	Het
Fam151b	A	T	13: 92,468,109	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991	V622A	probably benign	Het
Fbxo2	T	A	4: 148,164,899	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,367,078	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,707,549	D178E	probably benign	Het
Filip1	G	T	9: 79,815,809	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,739,249	Y1722C	probably damaging	Het
Frem3	T	C	8: 80,613,514	V812A	probably benign	Het
Fsip2	A	G	2: 82,978,673	I1779V	probably benign	Het
Gli2	C	T	1: 118,842,068	V585I	probably benign	Het
Gm15056	C	G	8: 20,900,681	S80T	probably benign	Het
Gm4951	T	C	18: 60,246,080	I229T	possibly damaging	Het
Gm5145	A	G	17: 20,570,453	E31G	probably benign	Het
Gmfg	A	G	7: 28,445,944	Y71C	probably damaging	Het
Grk1	A	G	8: 13,409,322	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,715,951	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,145	D2G	probably damaging	Het
Hc	A	T	2: 35,028,177	V698E	probably benign	Het
Helz	G	A	11: 107,646,069	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,413,265	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,663,606	R286G	probably benign	Het
Hus1b	A	T	13: 30,947,518	W53R	probably damaging	Het
Hydin	C	T	8: 110,595,225	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,265,324	P699A	probably benign	Het
Igkv1-122	A	T	6: 68,017,458	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,143,620	Y113C	probably damaging	Het
Il16	A	G	7: 83,682,899	S158P	probably damaging	Het
Kalrn	T	A	16: 34,235,267	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134	L357H	probably damaging	Het
Krt78	T	C	15: 101,946,620	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,684,906	C594R	probably damaging	Het
Lcorl	A	T	5: 45,733,589	L474*	probably null	Het
Lgals3	A	T	14: 47,381,687		probably null	Het
Lnx1	C	T	5: 74,610,796	V350I	probably benign	Het
Lpcat3	T	G	6: 124,703,323	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,541,372	T4149A	probably benign	Het
Memo1	G	A	17: 74,258,461	Q36*	probably null	Het
Micalcl	A	G	7: 112,412,947	N668S	probably benign	Het
Ms4a10	A	T	19: 10,968,189	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,051,872	L362V	possibly damaging	Het
Mymk	C	A	2: 27,062,280	V192F	probably benign	Het
Myo1c	A	G	11: 75,671,862	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,517,557	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,469,151	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,386,645	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522		probably null	Het
Nsd3	T	A	8: 25,710,676	M1265K	probably benign	Het
Olfr1206	G	T	2: 88,865,494	M296I	probably benign	Het
Olfr1212	T	A	2: 88,959,212	F249I	probably damaging	Het
Olfr1462	T	A	19: 13,190,698	F10L	probably damaging	Het
Olfr152	T	C	2: 87,783,221	V227A	possibly damaging	Het
Olfr155	A	G	4: 43,855,262	T318A	probably benign	Het
Olfr345	A	C	2: 36,640,614	T192P	probably damaging	Het
Olfr394	T	C	11: 73,887,803	T190A	probably damaging	Het
Olfr812	T	C	10: 129,842,475	D189G	probably damaging	Het
Otub1	G	A	19: 7,204,436	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,108,210	R102*	probably null	Het
Patl2	A	G	2: 122,126,745	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,475,575	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,141,528	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,196,502	D447G	probably damaging	Het
Pold1	C	A	7: 44,538,913	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,158,494	T552I	probably benign	Het
Ppl	T	C	16: 5,104,536	E294G	probably benign	Het
Pramef8	A	G	4: 143,416,754	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,457,224	S100G	probably benign	Het
Psg16	T	G	7: 17,095,172	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 123,001,952		probably benign	Het
Reck	T	C	4: 43,931,062		probably null	Het
Rrbp1	C	T	2: 143,988,751	G499S	probably benign	Het
Sema6d	G	T	2: 124,664,162	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,589,956	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,458,921	L80Q	probably damaging	Het
Slc7a10	G	T	7: 35,197,952		probably null	Het
Srrm2	C	T	17: 23,819,619		probably benign	Het
Stk38	T	G	17: 28,982,156	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,685,435	G104S	probably benign	Het
Tmem121b	T	C	6: 120,492,094	E554G	probably damaging	Het
Tor1aip2	A	G	1: 156,065,142	H398R	probably benign	Het
Tram2	C	T	1: 21,013,449	V83I	probably benign	Het
Ube3a	C	T	7: 59,286,063	T565I	probably damaging	Het
Ubr4	T	C	4: 139,380,853	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,349,719	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,606,662	T163I	probably benign	Het
Vmn2r75	T	A	7: 86,164,082	D504V	possibly damaging	Het
Vps36	G	A	8: 22,218,420	M363I	probably benign	Het
Wdsub1	A	G	2: 59,878,317	S71P	probably damaging	Het
Zdhhc12	A	G	2: 30,091,484	F189L	probably benign	Het
Zfp521	T	C	18: 13,844,330	M1009V	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
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
R8215:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
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	67086357	frame shift	probably null
RF009:Myh3	UTSW	11	67086355	frame shift	probably null
RF009:Myh3	UTSW	11	67086356	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'- ATCCACTGGGGTGTCTTTTC -3'
(R):5'- AGGATCAAAGCTGGTGTCTG -3'

Sequencing Primer
(F):5'- TTCTTAAGGCCAAGAACG -3'
(R):5'- TCAAAGCTGGTGTCTGAATGAACTG -3'

Posted On

2015-09-24