Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Myom2'

245412

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R2314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15113927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 25 (T25I)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033842
AA Change: T25I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: T25I

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: ENSMUST00000131251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135908

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Iqgap3	T	C	3: 88,023,338 (GRCm39)	V543A	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Polb	C	A	8: 23,130,018 (GRCm39)	A185S	possibly damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp809	A	G	9: 22,149,976 (GRCm39)	K158E	possibly damaging	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	probably damaging	Het

Other mutations in Myom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom2	APN	8	15,119,490 (GRCm39)	missense	probably damaging	1.00
IGL00426:Myom2	APN	8	15,119,502 (GRCm39)	missense	probably benign	0.00
IGL00503:Myom2	APN	8	15,164,289 (GRCm39)	splice site	probably null
IGL01515:Myom2	APN	8	15,172,655 (GRCm39)	missense	probably benign	0.15
IGL01649:Myom2	APN	8	15,163,755 (GRCm39)	missense	probably benign	0.24
IGL01658:Myom2	APN	8	15,127,880 (GRCm39)	missense	probably damaging	1.00
IGL01786:Myom2	APN	8	15,156,330 (GRCm39)	missense	probably damaging	0.99
IGL01924:Myom2	APN	8	15,119,685 (GRCm39)	missense	probably benign	0.37
IGL01929:Myom2	APN	8	15,167,698 (GRCm39)	missense	probably damaging	0.96
IGL02016:Myom2	APN	8	15,175,195 (GRCm39)	missense	probably benign	0.01
IGL02511:Myom2	APN	8	15,115,743 (GRCm39)	missense	probably benign
IGL02558:Myom2	APN	8	15,164,237 (GRCm39)	missense	probably benign	0.31
IGL02944:Myom2	APN	8	15,154,065 (GRCm39)	critical splice acceptor site	probably null
IGL03052:Myom2	APN	8	15,173,442 (GRCm39)	splice site	probably benign
IGL03195:Myom2	APN	8	15,161,844 (GRCm39)	nonsense	probably null
IGL03288:Myom2	APN	8	15,172,679 (GRCm39)	missense	probably damaging	0.99
IGL03402:Myom2	APN	8	15,115,731 (GRCm39)	missense	probably benign
yomama	UTSW	8	15,182,895 (GRCm39)	missense	probably benign	0.10
yoyoma	UTSW	8	15,182,667 (GRCm39)	missense	probably damaging	0.99
R0069:Myom2	UTSW	8	15,167,624 (GRCm39)	missense	probably benign
R0116:Myom2	UTSW	8	15,167,633 (GRCm39)	missense	probably damaging	1.00
R0131:Myom2	UTSW	8	15,133,329 (GRCm39)	missense	probably damaging	0.98
R0373:Myom2	UTSW	8	15,148,419 (GRCm39)	missense	possibly damaging	0.91
R0463:Myom2	UTSW	8	15,154,123 (GRCm39)	missense	probably benign	0.09
R0544:Myom2	UTSW	8	15,119,796 (GRCm39)	missense	probably damaging	1.00
R0629:Myom2	UTSW	8	15,119,783 (GRCm39)	missense	probably damaging	0.98
R0634:Myom2	UTSW	8	15,169,216 (GRCm39)	splice site	probably benign
R0645:Myom2	UTSW	8	15,167,698 (GRCm39)	missense	probably damaging	0.96
R0730:Myom2	UTSW	8	15,149,326 (GRCm39)	missense	probably benign	0.00
R0744:Myom2	UTSW	8	15,182,924 (GRCm39)	nonsense	probably null
R0836:Myom2	UTSW	8	15,182,924 (GRCm39)	nonsense	probably null
R1033:Myom2	UTSW	8	15,158,934 (GRCm39)	missense	probably benign	0.04
R1103:Myom2	UTSW	8	15,160,827 (GRCm39)	missense	probably benign	0.22
R1110:Myom2	UTSW	8	15,172,413 (GRCm39)	missense	probably benign	0.44
R1208:Myom2	UTSW	8	15,134,631 (GRCm39)	missense	probably damaging	1.00
R1208:Myom2	UTSW	8	15,134,631 (GRCm39)	missense	probably damaging	1.00
R1353:Myom2	UTSW	8	15,156,424 (GRCm39)	missense	probably damaging	1.00
R1530:Myom2	UTSW	8	15,172,384 (GRCm39)	missense	probably damaging	1.00
R1544:Myom2	UTSW	8	15,154,059 (GRCm39)	splice site	probably benign
R1576:Myom2	UTSW	8	15,134,556 (GRCm39)	missense	probably damaging	1.00
R1758:Myom2	UTSW	8	15,115,795 (GRCm39)	missense	probably benign	0.00
R1884:Myom2	UTSW	8	15,164,278 (GRCm39)	missense	probably benign	0.01
R1908:Myom2	UTSW	8	15,131,023 (GRCm39)	missense	probably damaging	1.00
R1962:Myom2	UTSW	8	15,182,599 (GRCm39)	splice site	probably null
R1977:Myom2	UTSW	8	15,135,263 (GRCm39)	missense	possibly damaging	0.47
R2018:Myom2	UTSW	8	15,181,151 (GRCm39)	missense	probably damaging	1.00
R2049:Myom2	UTSW	8	15,156,379 (GRCm39)	missense	probably damaging	0.97
R2155:Myom2	UTSW	8	15,134,555 (GRCm39)	missense	probably damaging	0.98
R2350:Myom2	UTSW	8	15,158,835 (GRCm39)	missense	probably benign	0.09
R2358:Myom2	UTSW	8	15,162,018 (GRCm39)	missense	possibly damaging	0.68
R2904:Myom2	UTSW	8	15,148,348 (GRCm39)	missense	probably benign	0.00
R3418:Myom2	UTSW	8	15,135,294 (GRCm39)	missense	probably benign	0.01
R3606:Myom2	UTSW	8	15,119,775 (GRCm39)	missense	probably damaging	1.00
R3607:Myom2	UTSW	8	15,119,775 (GRCm39)	missense	probably damaging	1.00
R3735:Myom2	UTSW	8	15,119,676 (GRCm39)	missense	probably benign	0.01
R3756:Myom2	UTSW	8	15,152,650 (GRCm39)	missense	probably benign	0.11
R3902:Myom2	UTSW	8	15,154,165 (GRCm39)	missense	probably benign
R3951:Myom2	UTSW	8	15,134,556 (GRCm39)	missense	probably benign	0.35
R4240:Myom2	UTSW	8	15,182,895 (GRCm39)	missense	probably benign	0.10
R4361:Myom2	UTSW	8	15,162,018 (GRCm39)	missense	possibly damaging	0.68
R4581:Myom2	UTSW	8	15,156,459 (GRCm39)	missense	probably benign	0.02
R4736:Myom2	UTSW	8	15,131,271 (GRCm39)	missense	probably damaging	0.99
R5010:Myom2	UTSW	8	15,133,310 (GRCm39)	missense	probably damaging	0.98
R5108:Myom2	UTSW	8	15,182,667 (GRCm39)	missense	probably damaging	0.99
R5370:Myom2	UTSW	8	15,149,343 (GRCm39)	missense	probably benign	0.10
R5427:Myom2	UTSW	8	15,163,764 (GRCm39)	missense	probably benign	0.03
R5498:Myom2	UTSW	8	15,179,142 (GRCm39)	missense	probably benign	0.01
R5504:Myom2	UTSW	8	15,178,879 (GRCm39)	missense	probably damaging	1.00
R5567:Myom2	UTSW	8	15,152,546 (GRCm39)	missense	probably benign	0.01
R5743:Myom2	UTSW	8	15,130,914 (GRCm39)	missense	possibly damaging	0.82
R5745:Myom2	UTSW	8	15,172,705 (GRCm39)	missense	probably benign	0.01
R5844:Myom2	UTSW	8	15,181,182 (GRCm39)	critical splice donor site	probably null
R5854:Myom2	UTSW	8	15,158,478 (GRCm39)	missense	probably benign
R6141:Myom2	UTSW	8	15,113,903 (GRCm39)	missense	probably damaging	1.00
R6209:Myom2	UTSW	8	15,154,173 (GRCm39)	missense	possibly damaging	0.76
R6248:Myom2	UTSW	8	15,148,472 (GRCm39)	splice site	probably null
R6378:Myom2	UTSW	8	15,149,356 (GRCm39)	missense	probably benign	0.11
R6829:Myom2	UTSW	8	15,172,643 (GRCm39)	nonsense	probably null
R6913:Myom2	UTSW	8	15,115,710 (GRCm39)	missense	probably benign
R6957:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6958:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6960:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6961:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6962:Myom2	UTSW	8	15,167,741 (GRCm39)	missense	probably null	0.42
R6999:Myom2	UTSW	8	15,134,531 (GRCm39)	missense	probably benign	0.22
R7148:Myom2	UTSW	8	15,134,577 (GRCm39)	missense	possibly damaging	0.72
R7210:Myom2	UTSW	8	15,154,114 (GRCm39)	missense	probably damaging	1.00
R7298:Myom2	UTSW	8	15,148,411 (GRCm39)	missense	probably damaging	1.00
R7463:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably null	0.94
R7535:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably damaging	1.00
R7573:Myom2	UTSW	8	15,172,450 (GRCm39)	missense	probably damaging	1.00
R7590:Myom2	UTSW	8	15,167,679 (GRCm39)	missense	probably damaging	1.00
R7690:Myom2	UTSW	8	15,161,717 (GRCm39)	critical splice acceptor site	probably null
R7794:Myom2	UTSW	8	15,133,259 (GRCm39)	missense	probably damaging	1.00
R7822:Myom2	UTSW	8	15,158,454 (GRCm39)	missense	probably benign
R7948:Myom2	UTSW	8	15,135,306 (GRCm39)	missense	probably benign	0.00
R8094:Myom2	UTSW	8	15,119,418 (GRCm39)	missense	possibly damaging	0.94
R8268:Myom2	UTSW	8	15,179,157 (GRCm39)	missense	probably damaging	1.00
R8292:Myom2	UTSW	8	15,182,888 (GRCm39)	missense	probably benign	0.01
R8514:Myom2	UTSW	8	15,175,153 (GRCm39)	missense	possibly damaging	0.65
R8539:Myom2	UTSW	8	15,164,254 (GRCm39)	missense	probably benign	0.01
R8790:Myom2	UTSW	8	15,169,242 (GRCm39)	missense	probably damaging	1.00
R8824:Myom2	UTSW	8	15,164,169 (GRCm39)	missense	possibly damaging	0.82
R8895:Myom2	UTSW	8	15,152,589 (GRCm39)	nonsense	probably null
R9024:Myom2	UTSW	8	15,113,936 (GRCm39)	missense	probably damaging	1.00
R9129:Myom2	UTSW	8	15,154,068 (GRCm39)	missense	probably damaging	1.00
R9224:Myom2	UTSW	8	15,178,804 (GRCm39)	missense	possibly damaging	0.89
R9237:Myom2	UTSW	8	15,152,591 (GRCm39)	missense	possibly damaging	0.85
R9321:Myom2	UTSW	8	15,172,464 (GRCm39)	missense	possibly damaging	0.91
R9341:Myom2	UTSW	8	15,134,633 (GRCm39)	missense	probably damaging	0.97
R9343:Myom2	UTSW	8	15,134,633 (GRCm39)	missense	probably damaging	0.97
R9375:Myom2	UTSW	8	15,149,210 (GRCm39)	missense	probably damaging	1.00
R9455:Myom2	UTSW	8	15,156,293 (GRCm39)	missense	probably benign	0.31
R9563:Myom2	UTSW	8	15,158,399 (GRCm39)	nonsense	probably null
R9565:Myom2	UTSW	8	15,158,399 (GRCm39)	nonsense	probably null
RF001:Myom2	UTSW	8	15,131,418 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- ATGCATGTCTGTCTGTCTGTC -3'
(R):5'- GCCATTCAACCCAACTGACTTC -3'

Sequencing Primer
(F):5'- TTATTGCCCTGAGACAAGGC -3'
(R):5'- GGGATATGTACATCAGAGATGCTCTC -3'

Posted On

2014-10-30