Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Myh3'

375942

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

042502-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67078300-67102291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67099407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1626 (I1626T)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

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

AlphaFold

P13541

Predicted Effect

probably benign
Transcript: ENSMUST00000007301
AA Change: I1626T

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: I1626T

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 benign
Transcript: ENSMUST00000108689
AA Change: I1626T

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: I1626T

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 benign
Transcript: ENSMUST00000165221
AA Change: I1626T

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: I1626T

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,989,687	Y944C	probably damaging	Het
Acacb	T	C	5: 114,232,938	V1747A	probably benign	Het
Acad8	C	T	9: 26,978,402	R332H	probably damaging	Het
Acrbp	A	C	6: 125,050,538	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,755,512	N1500K	probably benign	Het
Arfgef1	A	G	1: 10,159,573	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,951,345	S478G	probably benign	Het
Armh1	T	C	4: 117,237,780	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,408,961	L1045*	probably null	Het
Atp2a3	T	A	11: 72,982,680	L793H	probably damaging	Het
B4galnt4	C	A	7: 141,068,260	P563Q	probably benign	Het
BC027072	A	G	17: 71,751,071	M537T	probably damaging	Het
Bcl2a1b	A	T	9: 89,199,660	K94*	probably null	Het
Bod1	T	A	11: 31,666,853	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,405,959	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588	V1250A	possibly damaging	Het
Car12	T	A	9: 66,764,318	Y332*	probably null	Het
Ccdc186	A	T	19: 56,802,000		probably null	Het
Cdh6	T	C	15: 13,034,688	T629A	probably damaging	Het
Cep112	T	A	11: 108,506,645	D353E	probably damaging	Het
Cep152	T	C	2: 125,586,381	S777G	probably benign	Het
Clec4b2	A	C	6: 123,204,204	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926	Y323H	probably benign	Het
Cnp	G	T	11: 100,576,376	E48D	probably benign	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,391,023	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,614,941	E703D	probably damaging	Het
Dlg1	T	C	16: 31,857,946	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,413,819	S86G	probably benign	Het
Dock3	A	G	9: 106,930,067	F1354L	probably damaging	Het
Dock3	C	A	9: 106,992,972	V638F	possibly damaging	Het
E130309D02Rik	A	G	5: 143,301,837	S438P	probably benign	Het
Eif3c	A	T	7: 126,557,454	M407K	probably benign	Het
Epha4	T	A	1: 77,390,075	K578*	probably null	Het
Erc2	C	T	14: 27,653,328	L168F	probably damaging	Het
Esyt2	A	G	12: 116,342,088	I313V	probably benign	Het
Far1	T	A	7: 113,568,225	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,717,969	N463Y	possibly damaging	Het
Fgg	A	G	3: 83,008,540	D96G	probably benign	Het
Gfer	A	G	17: 24,695,300	S130P	probably damaging	Het
Gm8994	A	T	6: 136,328,739	Q66L	possibly damaging	Het
Hdac10	A	T	15: 89,128,447	M1K	probably null	Het
Hsd3b1	A	T	3: 98,853,326	S110R	probably benign	Het
Itga6	T	C	2: 71,838,373	L552P	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,257,202	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,480,214	Y142F	probably benign	Het
Lyz2	T	A	10: 117,278,709	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,570,023	D76G	probably damaging	Het
Map7d1	T	C	4: 126,233,225	K731E	unknown	Het
Mgam	A	C	6: 40,643,054	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953	E104D	probably benign	Het
Morc2a	C	T	11: 3,676,664	R241*	probably null	Het
Mtfmt	C	A	9: 65,452,104	H354N	probably benign	Het
Ndst1	A	T	18: 60,691,987	V753D	probably benign	Het
Neurl4	A	G	11: 69,903,171	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,256,897	S568G	probably benign	Het
Olfr1263	T	C	2: 90,015,418	F163L	probably damaging	Het
Olfr1513	G	C	14: 52,349,542	P168R	probably damaging	Het
Olfr315	T	C	11: 58,778,306	Y60H	possibly damaging	Het
Olfr325	T	G	11: 58,581,720	L292R	probably damaging	Het
Olfr593	A	G	7: 103,212,540	I216V	probably damaging	Het
Olfr798	A	T	10: 129,625,599	I154N	probably benign	Het
Olfr901	A	T	9: 38,430,815	M178L	probably benign	Het
Osbpl7	A	G	11: 97,060,150	I608V	probably damaging	Het
Pard3b	T	C	1: 61,768,000	I58T	probably damaging	Het
Pcdhga1	A	C	18: 37,662,354	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,150,624	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,410,416	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,464,042	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,564,125	Y183C	probably damaging	Het
Pole	A	C	5: 110,290,224		probably null	Het
Ppfia1	A	G	7: 144,491,576	L948P	probably damaging	Het
Prdm2	A	T	4: 143,134,191	V843E	probably damaging	Het
Prss56	C	A	1: 87,187,986	F527L	probably damaging	Het
Psmd11	T	C	11: 80,438,320	L88P	probably damaging	Het
Ptx3	G	C	3: 66,224,991	G311A	probably damaging	Het
Rars	A	T	11: 35,808,558	L636H	probably damaging	Het
Rnft2	A	G	5: 118,237,442	S81P	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rxra	T	A	2: 27,741,183	I142N	probably damaging	Het
Scin	T	C	12: 40,104,932	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,579,258	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,322,004	I505F	probably benign	Het
Six5	T	C	7: 19,095,171	Y179H	probably damaging	Het
Slc12a4	A	C	8: 105,944,609	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,837,512	L404F	probably damaging	Het
Smn1	T	C	13: 100,132,423	L259P	probably damaging	Het
Sorl1	T	G	9: 42,041,639	D702A	probably damaging	Het
Spta1	A	G	1: 174,237,834	E1983G	possibly damaging	Het
Srsf1	T	A	11: 88,049,962		probably null	Het
Stard9	C	T	2: 120,706,419	R4224*	probably null	Het
Svs1	A	G	6: 48,987,717	T220A	possibly damaging	Het
Sybu	T	G	15: 44,675,499	M383L	probably benign	Het
Tbx15	A	C	3: 99,352,267	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 138,218,057	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616	T474N	possibly damaging	Het
Thada	A	T	17: 84,448,042		probably null	Het
Tnik	A	T	3: 28,650,086	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,695,592	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,268,833	M623T	probably damaging	Het
Trdn	T	A	10: 33,474,417	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,776,192	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,660,240	R644S	probably benign	Het
Ttyh1	A	T	7: 4,133,736	M448L	probably benign	Het
Unc79	G	T	12: 103,161,820	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,626,608	I2110M	probably benign	Het
Uvssa	G	T	5: 33,413,913	E634*	probably null	Het
Vac14	A	C	8: 110,645,808	T384P	probably benign	Het
Wdr11	A	G	7: 129,633,721	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,110,524	T28S	probably benign	Het
Zfp715	A	T	7: 43,299,682	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,770,060	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,602,436	V544M	probably damaging	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
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	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'- AGATTCTCCGGATCCAGCTTG -3'
(R):5'- TGTCCTAGACAGAAGCCAAGAG -3'

Sequencing Primer
(F):5'- GCTTGAACTGACCCAGGTGAAATC -3'
(R):5'- CAGAAGCCAAGAGCGTGTGAAG -3'

Posted On

2016-03-17