Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Myom2'

602508

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15081418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033842
AA Change: V372A

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: V372A

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590		probably benign	Het
Acer1	A	G	17: 56,958,909	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Atp13a1	C	A	8: 69,800,070	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927		probably benign	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423		probably benign	Het
Coq7	A	G	7: 118,533,182	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416		probably benign	Het
Dgkz	A	T	2: 91,939,941	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886		probably benign	Het
Fat1	T	G	8: 44,988,966	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018		probably benign	Het
Gm14412	T	C	2: 177,317,101	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762		probably benign	Het
Inpp5f	G	A	7: 128,695,083	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282		probably benign	Het
Lama1	A	G	17: 67,752,902	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269		probably benign	Het
Lmo4	A	C	3: 144,201,862	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797	D303E	probably benign	Het
Me1	A	G	9: 86,582,823	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371	D368G	probably benign	Het
Neb	T	C	2: 52,195,421	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075		probably benign	Het
Sertad4	T	C	1: 192,847,178	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tecpr1	A	G	5: 144,217,386	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027		probably benign	Het
Vmn1r48	A	T	6: 90,036,204	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687		probably benign	Het
Zscan29	T	C	2: 121,163,996	N503D	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCATCCTGGAGCCTCTG -3'
(R):5'- TGACATGCCTTGCAACTTTG -3'

Sequencing Primer
(F):5'- AGCACCTGAGCTTACCCTG -3'
(R):5'- CAACTTTGGAGGGGGCTATCTC -3'

Posted On

2019-12-04