Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Myom2'

343680

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

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

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15106459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 769 (I769V)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably benign
Transcript: ENSMUST00000033842
AA Change: I769V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: I769V

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: ENSMUST00000135393

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,661,871 (GRCm38)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353 (GRCm38)	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568 (GRCm38)	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608 (GRCm38)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531 (GRCm38)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120 (GRCm38)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021 (GRCm38)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124 (GRCm38)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025 (GRCm38)	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970 (GRCm38)		probably null	Het
Camk1d	A	T	2: 5,354,704 (GRCm38)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783 (GRCm38)	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000 (GRCm38)	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333 (GRCm38)	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951 (GRCm38)	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980 (GRCm38)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,171,798 (GRCm38)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,369,088 (GRCm38)	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261 (GRCm38)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984 (GRCm38)		silent	Het
Dlgap2	T	C	8: 14,846,679 (GRCm38)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685 (GRCm38)	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275 (GRCm38)	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464 (GRCm38)	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338 (GRCm38)		probably null	Het
Fbxw7	G	A	3: 84,967,545 (GRCm38)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226 (GRCm38)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683 (GRCm38)	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083 (GRCm38)		probably benign	Het
Irf2bp2	T	A	8: 126,591,255 (GRCm38)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968 (GRCm38)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339 (GRCm38)		probably null	Het
Ltn1	A	T	16: 87,402,024 (GRCm38)		probably null	Het
Mafa	G	T	15: 75,747,736 (GRCm38)	P63T	unknown	Het
Mars2	T	A	1: 55,237,862 (GRCm38)	L208H	probably damaging	Het
Nyap1	A	G	5: 137,736,022 (GRCm38)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,594,228 (GRCm38)	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894 (GRCm38)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881 (GRCm38)	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505 (GRCm38)	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172 (GRCm38)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224 (GRCm38)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353 (GRCm38)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551 (GRCm38)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300 (GRCm38)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375 (GRCm38)		probably null	Het
Six1	T	G	12: 73,045,934 (GRCm38)	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042 (GRCm38)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740 (GRCm38)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165 (GRCm38)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm38)		probably null	Het
Spryd3	A	G	15: 102,130,364 (GRCm38)	S141P	probably damaging	Het
Src	A	T	2: 157,463,038 (GRCm38)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310 (GRCm38)		probably benign	Het
Stc2	A	G	11: 31,365,326 (GRCm38)		probably null	Het
Taf6l	T	C	19: 8,778,208 (GRCm38)	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722 (GRCm38)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125 (GRCm38)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230 (GRCm38)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm38)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345 (GRCm38)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611 (GRCm38)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117 (GRCm38)	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146 (GRCm38)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704 (GRCm38)	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094 (GRCm38)	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313 (GRCm38)	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668 (GRCm38)	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316 (GRCm38)	E660G	probably 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
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
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'- GCATTCTGTGTTCTTGCAGC -3'
(R):5'- TATGACACGGCCTCTTTACTG -3'

Sequencing Primer
(F):5'- GTGTTCTTGCAGCTGTCCC -3'
(R):5'- TTGTCAGGATCAAGGGAC -3'

Posted On

2015-09-24