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: 0.149) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15156459 bp (GRCm39)

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: 32,383,828 (GRCm39)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,754,146 (GRCm39)	D20G	possibly damaging	Het
Abca7	A	G	10: 79,842,402 (GRCm39)	D1112G	probably benign	Het
Actc1	G	T	2: 113,880,089 (GRCm39)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,279,595 (GRCm39)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,430,979 (GRCm39)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,771,205 (GRCm39)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,587,121 (GRCm39)	I991T	probably damaging	Het
Cacna1s	T	A	1: 135,998,708 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,359,515 (GRCm39)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,869 (GRCm39)	I110N	probably damaging	Het
Cenpe	A	G	3: 134,952,761 (GRCm39)	K1484E	probably benign	Het
Cep68	A	G	11: 20,189,333 (GRCm39)	S560P	probably benign	Het
Cog3	G	T	14: 75,970,391 (GRCm39)	T352K	probably benign	Het
Cox6a2	A	G	7: 127,805,152 (GRCm39)	S44P	possibly damaging	Het
Cplane1	C	A	15: 8,201,282 (GRCm39)	P20T	possibly damaging	Het
Csmd2	T	C	4: 128,262,881 (GRCm39)	V689A	probably benign	Het
Ddx60	A	T	8: 62,476,295 (GRCm39)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 148,918,482 (GRCm39)		silent	Het
Dlgap2	T	C	8: 14,896,679 (GRCm39)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,170,440 (GRCm39)	D502E	probably damaging	Het
Efhb	C	A	17: 53,733,303 (GRCm39)	A523S	probably damaging	Het
Epha8	C	T	4: 136,660,775 (GRCm39)	V648M	probably damaging	Het
Fanca	C	T	8: 124,001,077 (GRCm39)		probably null	Het
Fbxw7	G	A	3: 84,874,852 (GRCm39)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,512,075 (GRCm39)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,273,880 (GRCm39)	E112G	probably damaging	Het
Gm7535	T	C	17: 18,131,345 (GRCm39)		probably benign	Het
Irf2bp2	T	A	8: 127,317,994 (GRCm39)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,622,925 (GRCm39)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,275,576 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,198,912 (GRCm39)		probably null	Het
Mafa	G	T	15: 75,619,585 (GRCm39)	P63T	unknown	Het
Mars2	T	A	1: 55,277,021 (GRCm39)	L208H	probably damaging	Het
Nyap1	A	G	5: 137,734,284 (GRCm39)	S250P	probably damaging	Het
Or8k35	A	T	2: 86,424,572 (GRCm39)	M200K	probably benign	Het
Osmr	C	T	15: 6,872,375 (GRCm39)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,809,934 (GRCm39)	T796A	probably benign	Het
Pclo	T	C	5: 14,725,519 (GRCm39)	V1459A	unknown	Het
Phactr3	A	C	2: 177,924,965 (GRCm39)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,587,383 (GRCm39)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,407,810 (GRCm39)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,160,986 (GRCm39)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 3,993,375 (GRCm39)		probably null	Het
Six1	T	G	12: 73,092,708 (GRCm39)	T165P	probably benign	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,359,740 (GRCm39)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,312,284 (GRCm39)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm39)		probably null	Het
Spryd3	A	G	15: 102,038,799 (GRCm39)	S141P	probably damaging	Het
Src	A	T	2: 157,304,958 (GRCm39)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,157,482 (GRCm39)		probably benign	Het
Stc2	A	G	11: 31,315,326 (GRCm39)		probably null	Het
Taf6l	T	C	19: 8,755,572 (GRCm39)	D261G	probably damaging	Het
Tal1	T	G	4: 114,921,919 (GRCm39)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,124 (GRCm39)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,396,655 (GRCm39)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm39)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,946,380 (GRCm39)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,556,639 (GRCm39)	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Urb1	T	C	16: 90,585,034 (GRCm39)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,949,570 (GRCm39)	T426S	probably benign	Het
Yipf4	T	C	17: 74,806,089 (GRCm39)	Y243H	probably benign	Het
Zfp574	T	A	7: 24,780,738 (GRCm39)	C587S	probably damaging	Het
Zfp93	C	A	7: 23,975,093 (GRCm39)	H359Q	probably damaging	Het
Znfx1	T	C	2: 166,892,236 (GRCm39)	E660G	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
R2314:Myom2	UTSW	8	15,113,927 (GRCm39)	missense	probably damaging	0.99
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
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'- GCATTCTGTGTTCTTGCAGC -3'
(R):5'- TATGACACGGCCTCTTTACTG -3'

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

Posted On

2015-09-24