Mutagenetix > Incidental Mutations

Incidental Mutation 'R6341:Myh3'

514404

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.626) question?

Stock #

R6341 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

67078300-67102291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67082996 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 165 (F165S)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000007301
AA Change: F165S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: F165S

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: F165S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: F165S

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: F165S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: F165S

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: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403		probably null	Het
Atp8a1	T	C	5: 67,682,927	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573		probably null	Het
Cxcl10	T	C	5: 92,348,213	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542		probably null	Het
Ddx58	T	A	4: 40,222,199		probably null	Het
Duox1	T	C	2: 122,337,721	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284		probably null	Het
Ecel1	A	G	1: 87,150,471		probably null	Het
Efcab6	T	G	15: 83,935,938	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851		probably null	Het
Lrfn5	T	A	12: 61,843,582	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463		probably null	Het
Mmp17	A	T	5: 129,601,955	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492	D1005V	probably damaging	Het
Nacc1	T	C	8: 84,674,791	D419G	probably benign	Het
Neb	G	A	2: 52,209,474	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377		probably null	Het
Sec24a	A	T	11: 51,717,776	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131		probably null	Het
Wnk1	A	T	6: 119,948,585	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759	S276R	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
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
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'- CTGGGATATTAGTAAAGGCAACAC -3'
(R):5'- CGAGATGGTCAGTCTTTGCTTC -3'

Sequencing Primer
(F):5'- GATATTAGTAAAGGCAACACACACAC -3'
(R):5'- GCTTCTGATCCATAAGAATACGCTC -3'

Posted On

2018-04-27