Mutagenetix > Incidental Mutation

Incidental Mutation 'R1977:Myom2'

221858

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

039990-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15085263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 489 (I489F)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033842
AA Change: I489F

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: I489F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 122,781,533	C256F	probably damaging	Het
Adgra2	T	A	8: 27,115,761	V647D	possibly damaging	Het
AI593442	A	T	9: 52,678,192	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,574,212	G22R	probably damaging	Het
Ampd3	T	C	7: 110,803,162	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,451,447	R185L	possibly damaging	Het
Arhgap45	A	T	10: 80,020,818	I67F	probably damaging	Het
Asah1	A	G	8: 41,343,517		probably null	Het
Atl2	A	G	17: 79,852,590	Y56H	probably damaging	Het
Carf	A	T	1: 60,146,136	I447F	probably damaging	Het
Crmp1	A	G	5: 37,276,283	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,835,922	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,778,041	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,234,655	M1K	probably null	Het
Dnah17	T	C	11: 118,112,591	E810G	possibly damaging	Het
E2f5	T	A	3: 14,587,356	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,461,757	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,275,101	M115K	probably damaging	Het
Evi5	A	T	5: 107,799,139	L505*	probably null	Het
Fbxw25	T	A	9: 109,652,856	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,757,352	F439Y	possibly damaging	Het
Gps1	A	G	11: 120,785,826	T124A	probably damaging	Het
Hopx	T	C	5: 77,117,616		probably benign	Het
Hoxd3	A	G	2: 74,744,276	S89G	possibly damaging	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Izumo4	A	G	10: 80,703,121	Y106C	probably damaging	Het
Lama2	A	T	10: 26,990,800		probably null	Het
Lcorl	A	C	5: 45,775,420	S123R	probably null	Het
Lgr4	A	T	2: 110,011,928	I729F	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Matn3	T	A	12: 8,961,110		probably benign	Het
Mdc1	T	A	17: 35,850,930	S912T	probably benign	Het
Mgam	G	A	6: 40,664,880	V556I	probably benign	Het
Nfatc2	G	A	2: 168,504,459	T905I	possibly damaging	Het
Nme6	G	A	9: 109,835,341	R6Q	probably damaging	Het
Nr1h5	A	G	3: 102,947,817	S323P	probably damaging	Het
Nr4a3	C	A	4: 48,056,539	R364S	probably damaging	Het
Obox7	A	T	7: 14,664,398	D79V	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr374	G	A	8: 72,109,854	G96D	probably benign	Het
Olfr435	T	A	6: 43,201,980	V112D	possibly damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Parp8	T	A	13: 116,910,913	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Polk	T	C	13: 96,489,228	E436G	probably damaging	Het
Pramel7	A	G	2: 87,491,121	V190A	probably benign	Het
Rplp2	T	C	7: 141,448,781		probably benign	Het
Sec23ip	T	A	7: 128,766,273	S670T	probably damaging	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,851,816	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,422,138	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Stx17	G	A	4: 48,181,553	V241M	probably benign	Het
Taok3	A	T	5: 117,265,924	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Tmem87a	G	A	2: 120,374,504	A377V	probably benign	Het
Topaz1	C	T	9: 122,747,362	T6M	unknown	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,354,591		probably null	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr59	A	T	8: 111,458,638	C888S	probably benign	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
R1033:Myom2	UTSW	8	15108934	missense	probably benign	0.04
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
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'- TGAGTCCTTCGACCTGCTAC -3'
(R):5'- GACCTTGCCTTTACCTGCAG -3'

Sequencing Primer
(F):5'- CCTGCTACAAAGAACTGAATGTG -3'
(R):5'- TTTACCTGCAGGAGTCCCTAGAAG -3'

Posted On

2014-08-25