Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Myom2'

445751

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

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

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15122705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1211 (S1211T)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably benign
Transcript: ENSMUST00000033842
AA Change: S1211T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: S1211T

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: ENSMUST00000140033

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,073 (GRCm38)	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,931,274 (GRCm38)		probably null	Het
Adcy8	A	T	15: 64,920,471 (GRCm38)	I212N	possibly damaging	Het
Cobll1	T	C	2: 65,098,457 (GRCm38)	T879A	probably damaging	Het
Copb2	T	C	9: 98,574,111 (GRCm38)	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,437 (GRCm38)	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,280,443 (GRCm38)	N361K	probably benign	Het
Dmxl1	A	G	18: 49,846,586 (GRCm38)	E96G	probably benign	Het
Dock8	T	A	19: 25,130,397 (GRCm38)	N830K	probably benign	Het
Ephb1	C	T	9: 102,195,434 (GRCm38)	D49N	probably benign	Het
Fam19a1	G	A	6: 96,649,185 (GRCm38)	R128Q	probably damaging	Het
Fer1l6	A	G	15: 58,571,389 (GRCm38)	I514V	probably benign	Het
Fpr1	A	G	17: 17,877,082 (GRCm38)	I215T	probably benign	Het
Hectd4	G	A	5: 121,353,502 (GRCm38)	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,768 (GRCm38)	I68L	probably benign	Het
Intu	A	G	3: 40,692,972 (GRCm38)		probably null	Het
Kel	C	T	6: 41,699,027 (GRCm38)	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,156,453 (GRCm38)	S2781A	possibly damaging	Het
Nrp1	A	T	8: 128,468,448 (GRCm38)	I462F	probably benign	Het
Olfr787	T	A	10: 129,463,438 (GRCm38)	I254N	probably damaging	Het
Olfr958	T	C	9: 39,550,691 (GRCm38)	Y60C	probably damaging	Het
Pcsk1	A	C	13: 75,131,960 (GRCm38)	S635R	probably benign	Het
Pms1	A	T	1: 53,207,702 (GRCm38)	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920 (GRCm38)		probably benign	Het
Sema3b	C	A	9: 107,601,429 (GRCm38)	A356S	probably damaging	Het
Shoc2	C	A	19: 54,029,892 (GRCm38)	T485K	probably benign	Het
Slc7a7	G	A	14: 54,377,835 (GRCm38)	S235L	possibly damaging	Het
Smcr8	A	T	11: 60,784,151 (GRCm38)	T918S	probably benign	Het
Tle3	C	A	9: 61,414,851 (GRCm38)	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,483,075 (GRCm38)	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,448,471 (GRCm38)	H57Q	possibly damaging	Het

Other mutations in Myom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom2	APN	8	15,069,490 (GRCm38)	missense	probably damaging	1.00
IGL00426:Myom2	APN	8	15,069,502 (GRCm38)	missense	probably benign	0.00
IGL00503:Myom2	APN	8	15,114,289 (GRCm38)	splice site	probably null
IGL01515:Myom2	APN	8	15,122,655 (GRCm38)	missense	probably benign	0.15
IGL01649:Myom2	APN	8	15,113,755 (GRCm38)	missense	probably benign	0.24
IGL01658:Myom2	APN	8	15,077,880 (GRCm38)	missense	probably damaging	1.00
IGL01786:Myom2	APN	8	15,106,330 (GRCm38)	missense	probably damaging	0.99
IGL01924:Myom2	APN	8	15,069,685 (GRCm38)	missense	probably benign	0.37
IGL01929:Myom2	APN	8	15,117,698 (GRCm38)	missense	probably damaging	0.96
IGL02016:Myom2	APN	8	15,125,195 (GRCm38)	missense	probably benign	0.01
IGL02511:Myom2	APN	8	15,065,743 (GRCm38)	missense	probably benign
IGL02558:Myom2	APN	8	15,114,237 (GRCm38)	missense	probably benign	0.31
IGL02944:Myom2	APN	8	15,104,065 (GRCm38)	critical splice acceptor site	probably null
IGL03052:Myom2	APN	8	15,123,442 (GRCm38)	splice site	probably benign
IGL03195:Myom2	APN	8	15,111,844 (GRCm38)	nonsense	probably null
IGL03288:Myom2	APN	8	15,122,679 (GRCm38)	missense	probably damaging	0.99
IGL03402:Myom2	APN	8	15,065,731 (GRCm38)	missense	probably benign
yomama	UTSW	8	15,132,895 (GRCm38)	missense	probably benign	0.10
yoyoma	UTSW	8	15,132,667 (GRCm38)	missense	probably damaging	0.99
R0069:Myom2	UTSW	8	15,117,624 (GRCm38)	missense	probably benign
R0116:Myom2	UTSW	8	15,117,633 (GRCm38)	missense	probably damaging	1.00
R0131:Myom2	UTSW	8	15,083,329 (GRCm38)	missense	probably damaging	0.98
R0373:Myom2	UTSW	8	15,098,419 (GRCm38)	missense	possibly damaging	0.91
R0463:Myom2	UTSW	8	15,104,123 (GRCm38)	missense	probably benign	0.09
R0544:Myom2	UTSW	8	15,069,796 (GRCm38)	missense	probably damaging	1.00
R0629:Myom2	UTSW	8	15,069,783 (GRCm38)	missense	probably damaging	0.98
R0634:Myom2	UTSW	8	15,119,216 (GRCm38)	splice site	probably benign
R0645:Myom2	UTSW	8	15,117,698 (GRCm38)	missense	probably damaging	0.96
R0730:Myom2	UTSW	8	15,099,326 (GRCm38)	missense	probably benign	0.00
R0744:Myom2	UTSW	8	15,132,924 (GRCm38)	nonsense	probably null
R0836:Myom2	UTSW	8	15,132,924 (GRCm38)	nonsense	probably null
R1033:Myom2	UTSW	8	15,108,934 (GRCm38)	missense	probably benign	0.04
R1103:Myom2	UTSW	8	15,110,827 (GRCm38)	missense	probably benign	0.22
R1110:Myom2	UTSW	8	15,122,413 (GRCm38)	missense	probably benign	0.44
R1208:Myom2	UTSW	8	15,084,631 (GRCm38)	missense	probably damaging	1.00
R1208:Myom2	UTSW	8	15,084,631 (GRCm38)	missense	probably damaging	1.00
R1353:Myom2	UTSW	8	15,106,424 (GRCm38)	missense	probably damaging	1.00
R1530:Myom2	UTSW	8	15,122,384 (GRCm38)	missense	probably damaging	1.00
R1544:Myom2	UTSW	8	15,104,059 (GRCm38)	splice site	probably benign
R1576:Myom2	UTSW	8	15,084,556 (GRCm38)	missense	probably damaging	1.00
R1758:Myom2	UTSW	8	15,065,795 (GRCm38)	missense	probably benign	0.00
R1884:Myom2	UTSW	8	15,114,278 (GRCm38)	missense	probably benign	0.01
R1908:Myom2	UTSW	8	15,081,023 (GRCm38)	missense	probably damaging	1.00
R1962:Myom2	UTSW	8	15,132,599 (GRCm38)	splice site	probably null
R1977:Myom2	UTSW	8	15,085,263 (GRCm38)	missense	possibly damaging	0.47
R2018:Myom2	UTSW	8	15,131,151 (GRCm38)	missense	probably damaging	1.00
R2049:Myom2	UTSW	8	15,106,379 (GRCm38)	missense	probably damaging	0.97
R2155:Myom2	UTSW	8	15,084,555 (GRCm38)	missense	probably damaging	0.98
R2314:Myom2	UTSW	8	15,063,927 (GRCm38)	missense	probably damaging	0.99
R2350:Myom2	UTSW	8	15,108,835 (GRCm38)	missense	probably benign	0.09
R2358:Myom2	UTSW	8	15,112,018 (GRCm38)	missense	possibly damaging	0.68
R2904:Myom2	UTSW	8	15,098,348 (GRCm38)	missense	probably benign	0.00
R3418:Myom2	UTSW	8	15,085,294 (GRCm38)	missense	probably benign	0.01
R3606:Myom2	UTSW	8	15,069,775 (GRCm38)	missense	probably damaging	1.00
R3607:Myom2	UTSW	8	15,069,775 (GRCm38)	missense	probably damaging	1.00
R3735:Myom2	UTSW	8	15,069,676 (GRCm38)	missense	probably benign	0.01
R3756:Myom2	UTSW	8	15,102,650 (GRCm38)	missense	probably benign	0.11
R3902:Myom2	UTSW	8	15,104,165 (GRCm38)	missense	probably benign
R3951:Myom2	UTSW	8	15,084,556 (GRCm38)	missense	probably benign	0.35
R4240:Myom2	UTSW	8	15,132,895 (GRCm38)	missense	probably benign	0.10
R4361:Myom2	UTSW	8	15,112,018 (GRCm38)	missense	possibly damaging	0.68
R4581:Myom2	UTSW	8	15,106,459 (GRCm38)	missense	probably benign	0.02
R4736:Myom2	UTSW	8	15,081,271 (GRCm38)	missense	probably damaging	0.99
R5010:Myom2	UTSW	8	15,083,310 (GRCm38)	missense	probably damaging	0.98
R5108:Myom2	UTSW	8	15,132,667 (GRCm38)	missense	probably damaging	0.99
R5370:Myom2	UTSW	8	15,099,343 (GRCm38)	missense	probably benign	0.10
R5427:Myom2	UTSW	8	15,113,764 (GRCm38)	missense	probably benign	0.03
R5498:Myom2	UTSW	8	15,129,142 (GRCm38)	missense	probably benign	0.01
R5504:Myom2	UTSW	8	15,128,879 (GRCm38)	missense	probably damaging	1.00
R5567:Myom2	UTSW	8	15,102,546 (GRCm38)	missense	probably benign	0.01
R5743:Myom2	UTSW	8	15,080,914 (GRCm38)	missense	possibly damaging	0.82
R5844:Myom2	UTSW	8	15,131,182 (GRCm38)	critical splice donor site	probably null
R5854:Myom2	UTSW	8	15,108,478 (GRCm38)	missense	probably benign
R6141:Myom2	UTSW	8	15,063,903 (GRCm38)	missense	probably damaging	1.00
R6209:Myom2	UTSW	8	15,104,173 (GRCm38)	missense	possibly damaging	0.76
R6248:Myom2	UTSW	8	15,098,472 (GRCm38)	splice site	probably null
R6378:Myom2	UTSW	8	15,099,356 (GRCm38)	missense	probably benign	0.11
R6829:Myom2	UTSW	8	15,122,643 (GRCm38)	nonsense	probably null
R6913:Myom2	UTSW	8	15,065,710 (GRCm38)	missense	probably benign
R6957:Myom2	UTSW	8	15,117,741 (GRCm38)	missense	probably null	0.42
R6958:Myom2	UTSW	8	15,117,741 (GRCm38)	missense	probably null	0.42
R6960:Myom2	UTSW	8	15,117,741 (GRCm38)	missense	probably null	0.42
R6961:Myom2	UTSW	8	15,117,741 (GRCm38)	missense	probably null	0.42
R6962:Myom2	UTSW	8	15,117,741 (GRCm38)	missense	probably null	0.42
R6999:Myom2	UTSW	8	15,084,531 (GRCm38)	missense	probably benign	0.22
R7148:Myom2	UTSW	8	15,084,577 (GRCm38)	missense	possibly damaging	0.72
R7210:Myom2	UTSW	8	15,104,114 (GRCm38)	missense	probably damaging	1.00
R7298:Myom2	UTSW	8	15,098,411 (GRCm38)	missense	probably damaging	1.00
R7463:Myom2	UTSW	8	15,117,679 (GRCm38)	missense	probably null	0.94
R7535:Myom2	UTSW	8	15,117,679 (GRCm38)	missense	probably damaging	1.00
R7573:Myom2	UTSW	8	15,122,450 (GRCm38)	missense	probably damaging	1.00
R7590:Myom2	UTSW	8	15,117,679 (GRCm38)	missense	probably damaging	1.00
R7690:Myom2	UTSW	8	15,111,717 (GRCm38)	critical splice acceptor site	probably null
R7794:Myom2	UTSW	8	15,083,259 (GRCm38)	missense	probably damaging	1.00
R7822:Myom2	UTSW	8	15,108,454 (GRCm38)	missense	probably benign
R7948:Myom2	UTSW	8	15,085,306 (GRCm38)	missense	probably benign	0.00
R8094:Myom2	UTSW	8	15,069,418 (GRCm38)	missense	possibly damaging	0.94
R8268:Myom2	UTSW	8	15,129,157 (GRCm38)	missense	probably damaging	1.00
R8292:Myom2	UTSW	8	15,132,888 (GRCm38)	missense	probably benign	0.01
R8514:Myom2	UTSW	8	15,125,153 (GRCm38)	missense	possibly damaging	0.65
R8539:Myom2	UTSW	8	15,114,254 (GRCm38)	missense	probably benign	0.01
R8790:Myom2	UTSW	8	15,119,242 (GRCm38)	missense	probably damaging	1.00
R8824:Myom2	UTSW	8	15,114,169 (GRCm38)	missense	possibly damaging	0.82
R8895:Myom2	UTSW	8	15,102,589 (GRCm38)	nonsense	probably null
R9024:Myom2	UTSW	8	15,063,936 (GRCm38)	missense	probably damaging	1.00
R9129:Myom2	UTSW	8	15,104,068 (GRCm38)	missense	probably damaging	1.00
R9224:Myom2	UTSW	8	15,128,804 (GRCm38)	missense	possibly damaging	0.89
R9237:Myom2	UTSW	8	15,102,591 (GRCm38)	missense	possibly damaging	0.85
R9321:Myom2	UTSW	8	15,122,464 (GRCm38)	missense	possibly damaging	0.91
R9341:Myom2	UTSW	8	15,084,633 (GRCm38)	missense	probably damaging	0.97
R9343:Myom2	UTSW	8	15,084,633 (GRCm38)	missense	probably damaging	0.97
R9375:Myom2	UTSW	8	15,099,210 (GRCm38)	missense	probably damaging	1.00
R9455:Myom2	UTSW	8	15,106,293 (GRCm38)	missense	probably benign	0.31
R9563:Myom2	UTSW	8	15,108,399 (GRCm38)	nonsense	probably null
R9565:Myom2	UTSW	8	15,108,399 (GRCm38)	nonsense	probably null
RF001:Myom2	UTSW	8	15,081,418 (GRCm38)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CAACTCAGAAACCTGGCAGTG -3'
(R):5'- AGTTCTGCCATCTCAGAGGG -3'

Sequencing Primer
(F):5'- CAGAAACCTGGCAGTGCTCTTTG -3'
(R):5'- TGCCATCTCAGAGGGTACAACTATAG -3'

Posted On

2016-11-21