Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Myom2'

583518

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

045607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15117679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1088 (Y1088C)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033842
AA Change: Y1088C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: Y1088C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,900	S159A	probably benign	Het
Abca7	T	A	10: 80,001,629	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,504,253	T415A	probably benign	Het
Akt3	A	T	1: 177,097,034	V165D	probably damaging	Het
Cbr2	T	A	11: 120,729,802	I219F	probably damaging	Het
Cdh20	T	A	1: 104,975,043	D486E	probably damaging	Het
Cenpe	A	G	3: 135,243,762	S103G	possibly damaging	Het
Chd4	T	A	6: 125,128,873	S1818T	probably benign	Het
Chst5	T	C	8: 111,890,163	D275G	probably damaging	Het
Clca1	A	G	3: 145,018,567	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,070,272	Y239H	probably benign	Het
Ddx25	A	G	9: 35,543,655	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,136,647	L265P	probably damaging	Het
Dis3	A	G	14: 99,089,979	S363P	probably benign	Het
Disp3	T	C	4: 148,242,866	E1187G	probably damaging	Het
Dopey2	G	A	16: 93,806,361	G2061R	probably damaging	Het
Dsp	T	C	13: 38,192,789	S1517P	probably benign	Het
Epg5	T	A	18: 78,032,926	V2513E	probably benign	Het
Fryl	T	A	5: 73,098,196	T831S	probably benign	Het
Gm6309	A	T	5: 146,168,290	V271D	probably damaging	Het
H2-M2	G	T	17: 37,482,637	S159R	probably benign	Het
Helq	A	G	5: 100,790,133		probably null	Het
Herc1	G	C	9: 66,474,853	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 105,519,123	I87F	probably damaging	Het
Ice2	A	G	9: 69,432,078	N959S	probably damaging	Het
Ifi47	T	A	11: 49,096,625	D406E	probably damaging	Het
Ifit3	T	G	19: 34,587,880	S275R	probably damaging	Het
Insl5	C	A	4: 103,018,198	K118N	probably damaging	Het
Irf7	A	T	7: 141,264,637	F158I	probably benign	Het
Kat2b	T	C	17: 53,624,403	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,970,322	N102Y	probably damaging	Het
Krt13	C	T	11: 100,117,998	G410S	unknown	Het
Larp6	A	T	9: 60,724,154	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,501,857	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,297,753		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mysm1	T	C	4: 94,952,215	N655D	probably benign	Het
Nbas	T	A	12: 13,279,389	S112T	probably damaging	Het
Neb	A	G	2: 52,165,103		probably null	Het
Noxred1	G	A	12: 87,233,432	A42V	probably benign	Het
Olfm5	G	A	7: 104,154,237	P340S	possibly damaging	Het
Olfr1031	T	A	2: 85,991,901	V28E	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr1505	A	G	19: 13,919,085	K22E	probably benign	Het
Olfr167	T	C	16: 19,514,794	T281A	probably damaging	Het
Olfr749	G	A	14: 50,736,665	P166S	probably benign	Het
Pccb	A	T	9: 100,994,562		probably null	Het
Pnn	T	A	12: 59,072,137	V502E	probably benign	Het
Pole2	A	T	12: 69,222,429	I98K	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 29,139,059	K111E	probably benign	Het
Rbbp6	G	A	7: 122,990,143	M351I	probably benign	Het
Rgs19	T	G	2: 181,691,308	H53P	probably damaging	Het
Rin1	A	T	19: 5,052,536	T369S	probably benign	Het
Rnaset2b	G	A	17: 6,991,739	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,776,587	P379S	probably damaging	Het
Sbno1	A	G	5: 124,413,279	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,919,758	L29Q	unknown	Het
Slc16a14	T	C	1: 84,913,122	Y154C	probably damaging	Het
Slc22a29	A	G	19: 8,169,978	F340S	probably damaging	Het
Slc6a4	T	G	11: 77,015,150	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,647,625	V651I	possibly damaging	Het
Susd5	C	T	9: 114,064,040	A62V	possibly damaging	Het
Syt1	T	A	10: 108,627,422		probably null	Het
Taf10	T	C	7: 105,740,910	I218T	probably benign	Het
Tas1r1	C	A	4: 152,028,362	V745F	probably benign	Het
Tas2r125	C	A	6: 132,910,324	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,594,659	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 85,063,280	Q1184*	probably null	Het
Treml2	T	A	17: 48,302,819	V93D	probably damaging	Het
Trim11	G	A	11: 58,982,065	E192K	probably damaging	Het
Trim43a	A	G	9: 88,588,148	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,589	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,576,519	S235G	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Usp36	A	T	11: 118,262,046	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,324,695	N550I	probably damaging	Het
Wdr47	A	G	3: 108,629,711	I572V	probably benign	Het
Zfp112	A	T	7: 24,126,710	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,904,944	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487	D524G	probably benign	Het
Zfp90	A	T	8: 106,424,268	K204N	possibly damaging	Het
Zmym2	T	C	14: 56,957,079	S1265P	probably 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
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
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
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'- AGAGAACAAATCTAGTATGGGTGTT -3'
(R):5'- AGGACAGCCTTGAATGCTATTCA -3'

Sequencing Primer
(F):5'- GGGTGTTTGAAATACTTCCTCCAAC -3'
(R):5'- ATGCTATTCAAGAAAAAGAGAGAGAG -3'

Posted On

2019-10-17