Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Myom2'

578561

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

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

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15117679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1088 (Y1088F)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably null
Transcript: ENSMUST00000033842
AA Change: Y1088F

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: Y1088F

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: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	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
R5745:Myom2	UTSW	8	15,122,705 (GRCm38)	missense	probably benign	0.01
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
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'- AGAGAACAAATCTAGTATGGGTGTT -3'
(R):5'- AGGACAGCCTTGAATGCTATTCA -3'

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

Posted On

2019-10-07