Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Myom2'

95270

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

039132-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15108934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 870 (R870H)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033842]

AlphaFold

Q14BI5

Predicted Effect

probably benign
Transcript: ENSMUST00000033842
AA Change: R870H

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: R870H

Domain	Start	End	E-Value	Type
low complexity region	34	63	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC
coiled coil region	97	129	N/A	INTRINSIC
IG	160	247	7.7e-5	SMART
IG	284	373	8.01e-3	SMART
FN3	383	466	1.5e-14	SMART
FN3	511	594	1.79e-12	SMART
FN3	612	693	1.95e-13	SMART
FN3	711	794	8.69e-11	SMART
FN3	813	896	1.86e-10	SMART
IG_like	913	999	1.58e2	SMART
Blast:IG_like	1021	1106	1e-44	BLAST
IG_like	1135	1215	2.27e1	SMART
Blast:IG_like	1227	1321	9e-51	BLAST
IGc2	1357	1425	4.96e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135393

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,385	P1238L	probably benign	Het
Aasdh	G	A	5: 76,876,283	T174M	probably damaging	Het
Akap6	A	C	12: 53,069,222	D1036A	probably damaging	Het
Alg6	T	C	4: 99,762,033	S497P	probably benign	Het
Arhgap10	T	A	8: 77,257,347	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,828,555	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,793,888		probably null	Het
Card14	T	A	11: 119,338,370	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,596,880	R32*	probably null	Het
Cdh7	A	T	1: 110,085,053	D372V	probably damaging	Het
Cfap54	A	T	10: 92,839,449	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,951	V100F	probably damaging	Het
Dapk1	T	C	13: 60,721,865		probably null	Het
Exoc4	G	A	6: 33,265,987	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236	C97S	probably damaging	Het
Frem3	A	T	8: 80,695,157	H2062L	probably benign	Het
Frk	T	C	10: 34,608,458	C476R	probably damaging	Het
Gm10471	T	C	5: 26,089,127	K18E	probably benign	Het
Gm10542	A	G	18: 44,204,601	T49A	probably benign	Het
Gm128	A	G	3: 95,240,011	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,751,710	M298I	probably benign	Het
Gxylt1	T	C	15: 93,245,077	E369G	probably benign	Het
Hpse2	A	G	19: 42,913,199	V368A	probably benign	Het
Ice1	A	T	13: 70,606,594	S458T	probably damaging	Het
Itgb7	T	A	15: 102,223,554	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,518,670	V72A	possibly damaging	Het
Magel2	A	G	7: 62,380,050	M901V	unknown	Het
Mgam	A	T	6: 40,680,624	Y971F	probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mpp6	T	C	6: 50,183,736	Y326H	probably damaging	Het
Mug1	A	T	6: 121,880,551	D1078V	probably damaging	Het
Nek8	A	T	11: 78,171,285	L71Q	probably null	Het
Nox4	T	A	7: 87,374,413	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054	P73S	probably damaging	Het
Nup205	C	T	6: 35,227,442	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,393,233	F207L	probably damaging	Het
Olfr1043	A	G	2: 86,162,850	I33T	possibly damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Olfr410	A	C	11: 74,334,636	N198K	possibly damaging	Het
Olfr59	A	C	11: 74,288,666	T7P	probably damaging	Het
Prkdc	T	C	16: 15,767,951	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,456,251	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,742,705	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535	S1333P	probably benign	Het
Rpl7	A	G	1: 16,102,504	I197T	probably benign	Het
Sar1a	C	A	10: 61,685,616	Q81K	probably damaging	Het
Shank1	A	T	7: 44,356,796	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,104,889	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,335,801	Q436*	probably null	Het
Szt2	C	T	4: 118,387,106	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,208,212	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,395,890	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,354,221	D419G	possibly damaging	Het

Other mutations in Myom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom2	APN	8	15069490	missense	probably damaging	1.00
IGL00426:Myom2	APN	8	15069502	missense	probably benign	0.00
IGL00503:Myom2	APN	8	15114289	splice site	probably null
IGL01515:Myom2	APN	8	15122655	missense	probably benign	0.15
IGL01649:Myom2	APN	8	15113755	missense	probably benign	0.24
IGL01658:Myom2	APN	8	15077880	missense	probably damaging	1.00
IGL01786:Myom2	APN	8	15106330	missense	probably damaging	0.99
IGL01924:Myom2	APN	8	15069685	missense	probably benign	0.37
IGL01929:Myom2	APN	8	15117698	missense	probably damaging	0.96
IGL02016:Myom2	APN	8	15125195	missense	probably benign	0.01
IGL02511:Myom2	APN	8	15065743	missense	probably benign
IGL02558:Myom2	APN	8	15114237	missense	probably benign	0.31
IGL02944:Myom2	APN	8	15104065	critical splice acceptor site	probably null
IGL03052:Myom2	APN	8	15123442	splice site	probably benign
IGL03195:Myom2	APN	8	15111844	nonsense	probably null
IGL03288:Myom2	APN	8	15122679	missense	probably damaging	0.99
IGL03402:Myom2	APN	8	15065731	missense	probably benign
yomama	UTSW	8	15132895	missense	probably benign	0.10
yoyoma	UTSW	8	15132667	missense	probably damaging	0.99
R0069:Myom2	UTSW	8	15117624	missense	probably benign
R0116:Myom2	UTSW	8	15117633	missense	probably damaging	1.00
R0131:Myom2	UTSW	8	15083329	missense	probably damaging	0.98
R0373:Myom2	UTSW	8	15098419	missense	possibly damaging	0.91
R0463:Myom2	UTSW	8	15104123	missense	probably benign	0.09
R0544:Myom2	UTSW	8	15069796	missense	probably damaging	1.00
R0629:Myom2	UTSW	8	15069783	missense	probably damaging	0.98
R0634:Myom2	UTSW	8	15119216	splice site	probably benign
R0645:Myom2	UTSW	8	15117698	missense	probably damaging	0.96
R0730:Myom2	UTSW	8	15099326	missense	probably benign	0.00
R0744:Myom2	UTSW	8	15132924	nonsense	probably null
R0836:Myom2	UTSW	8	15132924	nonsense	probably null
R1103:Myom2	UTSW	8	15110827	missense	probably benign	0.22
R1110:Myom2	UTSW	8	15122413	missense	probably benign	0.44
R1208:Myom2	UTSW	8	15084631	missense	probably damaging	1.00
R1208:Myom2	UTSW	8	15084631	missense	probably damaging	1.00
R1353:Myom2	UTSW	8	15106424	missense	probably damaging	1.00
R1530:Myom2	UTSW	8	15122384	missense	probably damaging	1.00
R1544:Myom2	UTSW	8	15104059	splice site	probably benign
R1576:Myom2	UTSW	8	15084556	missense	probably damaging	1.00
R1758:Myom2	UTSW	8	15065795	missense	probably benign	0.00
R1884:Myom2	UTSW	8	15114278	missense	probably benign	0.01
R1908:Myom2	UTSW	8	15081023	missense	probably damaging	1.00
R1962:Myom2	UTSW	8	15132599	splice site	probably null
R1977:Myom2	UTSW	8	15085263	missense	possibly damaging	0.47
R2018:Myom2	UTSW	8	15131151	missense	probably damaging	1.00
R2049:Myom2	UTSW	8	15106379	missense	probably damaging	0.97
R2155:Myom2	UTSW	8	15084555	missense	probably damaging	0.98
R2314:Myom2	UTSW	8	15063927	missense	probably damaging	0.99
R2350:Myom2	UTSW	8	15108835	missense	probably benign	0.09
R2358:Myom2	UTSW	8	15112018	missense	possibly damaging	0.68
R2904:Myom2	UTSW	8	15098348	missense	probably benign	0.00
R3418:Myom2	UTSW	8	15085294	missense	probably benign	0.01
R3606:Myom2	UTSW	8	15069775	missense	probably damaging	1.00
R3607:Myom2	UTSW	8	15069775	missense	probably damaging	1.00
R3735:Myom2	UTSW	8	15069676	missense	probably benign	0.01
R3756:Myom2	UTSW	8	15102650	missense	probably benign	0.11
R3902:Myom2	UTSW	8	15104165	missense	probably benign
R3951:Myom2	UTSW	8	15084556	missense	probably benign	0.35
R4240:Myom2	UTSW	8	15132895	missense	probably benign	0.10
R4361:Myom2	UTSW	8	15112018	missense	possibly damaging	0.68
R4581:Myom2	UTSW	8	15106459	missense	probably benign	0.02
R4736:Myom2	UTSW	8	15081271	missense	probably damaging	0.99
R5010:Myom2	UTSW	8	15083310	missense	probably damaging	0.98
R5108:Myom2	UTSW	8	15132667	missense	probably damaging	0.99
R5370:Myom2	UTSW	8	15099343	missense	probably benign	0.10
R5427:Myom2	UTSW	8	15113764	missense	probably benign	0.03
R5498:Myom2	UTSW	8	15129142	missense	probably benign	0.01
R5504:Myom2	UTSW	8	15128879	missense	probably damaging	1.00
R5567:Myom2	UTSW	8	15102546	missense	probably benign	0.01
R5743:Myom2	UTSW	8	15080914	missense	possibly damaging	0.82
R5745:Myom2	UTSW	8	15122705	missense	probably benign	0.01
R5844:Myom2	UTSW	8	15131182	critical splice donor site	probably null
R5854:Myom2	UTSW	8	15108478	missense	probably benign
R6141:Myom2	UTSW	8	15063903	missense	probably damaging	1.00
R6209:Myom2	UTSW	8	15104173	missense	possibly damaging	0.76
R6248:Myom2	UTSW	8	15098472	splice site	probably null
R6378:Myom2	UTSW	8	15099356	missense	probably benign	0.11
R6829:Myom2	UTSW	8	15122643	nonsense	probably null
R6913:Myom2	UTSW	8	15065710	missense	probably benign
R6957:Myom2	UTSW	8	15117741	missense	probably null	0.42
R6958:Myom2	UTSW	8	15117741	missense	probably null	0.42
R6960:Myom2	UTSW	8	15117741	missense	probably null	0.42
R6961:Myom2	UTSW	8	15117741	missense	probably null	0.42
R6962:Myom2	UTSW	8	15117741	missense	probably null	0.42
R6999:Myom2	UTSW	8	15084531	missense	probably benign	0.22
R7148:Myom2	UTSW	8	15084577	missense	possibly damaging	0.72
R7210:Myom2	UTSW	8	15104114	missense	probably damaging	1.00
R7298:Myom2	UTSW	8	15098411	missense	probably damaging	1.00
R7463:Myom2	UTSW	8	15117679	missense	probably null	0.94
R7535:Myom2	UTSW	8	15117679	missense	probably damaging	1.00
R7573:Myom2	UTSW	8	15122450	missense	probably damaging	1.00
R7590:Myom2	UTSW	8	15117679	missense	probably damaging	1.00
R7690:Myom2	UTSW	8	15111717	critical splice acceptor site	probably null
R7794:Myom2	UTSW	8	15083259	missense	probably damaging	1.00
R7822:Myom2	UTSW	8	15108454	missense	probably benign
R7948:Myom2	UTSW	8	15085306	missense	probably benign	0.00
R8094:Myom2	UTSW	8	15069418	missense	possibly damaging	0.94
R8268:Myom2	UTSW	8	15129157	missense	probably damaging	1.00
R8292:Myom2	UTSW	8	15132888	missense	probably benign	0.01
R8514:Myom2	UTSW	8	15125153	missense	possibly damaging	0.65
R8539:Myom2	UTSW	8	15114254	missense	probably benign	0.01
R8790:Myom2	UTSW	8	15119242	missense	probably damaging	1.00
R8824:Myom2	UTSW	8	15114169	missense	possibly damaging	0.82
R8895:Myom2	UTSW	8	15102589	nonsense	probably null
R9024:Myom2	UTSW	8	15063936	missense	probably damaging	1.00
R9129:Myom2	UTSW	8	15104068	missense	probably damaging	1.00
R9224:Myom2	UTSW	8	15128804	missense	possibly damaging	0.89
R9237:Myom2	UTSW	8	15102591	missense	possibly damaging	0.85
R9321:Myom2	UTSW	8	15122464	missense	possibly damaging	0.91
R9341:Myom2	UTSW	8	15084633	missense	probably damaging	0.97
R9343:Myom2	UTSW	8	15084633	missense	probably damaging	0.97
R9375:Myom2	UTSW	8	15099210	missense	probably damaging	1.00
R9455:Myom2	UTSW	8	15106293	missense	probably benign	0.31
R9563:Myom2	UTSW	8	15108399	nonsense	probably null
R9565:Myom2	UTSW	8	15108399	nonsense	probably null
RF001:Myom2	UTSW	8	15081418	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TGGAATGCTGCTGATGGTCACAATG -3'
(R):5'- AACTGGAAGTTCCTGAGGACAGCAC -3'

Sequencing Primer
(F):5'- AGGTTTCCACTGCTGCTCAG -3'
(R):5'- GGACAGCACCACCTCCTC -3'

Posted On

2014-01-05