Mutagenetix > Incidental Mutation

Incidental Mutation 'R6961:Myom2'

541762

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

045071-MU

Accession Numbers

Essential gene?

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

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15167741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1109 (A1109T)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably null
Transcript: ENSMUST00000033842
AA Change: A1109T

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: A1109T

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

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,024,148 (GRCm39)	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 106,255,849 (GRCm39)	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,168,835 (GRCm39)	F23L	probably damaging	Het
Cd200l1	T	A	16: 45,264,366 (GRCm39)	Y64F	probably benign	Het
Cdh23	G	C	10: 60,485,893 (GRCm39)	L41V	probably benign	Het
Cep120	C	A	18: 53,836,277 (GRCm39)	E803*	probably null	Het
Clcn7	C	T	17: 25,376,188 (GRCm39)	P560S	probably damaging	Het
Cldn12	A	T	5: 5,557,707 (GRCm39)	V240D	probably damaging	Het
Clec1a	C	T	6: 129,406,946 (GRCm39)	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Crispld1	T	A	1: 17,832,365 (GRCm39)	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Fam186a	T	A	15: 99,838,082 (GRCm39)	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,748,740 (GRCm39)	F393S	probably damaging	Het
Fut1	A	T	7: 45,268,963 (GRCm39)	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,249,153 (GRCm39)	D655G	probably benign	Het
Gm29106	A	T	1: 118,128,128 (GRCm39)	K607*	probably null	Het
Gm57858	T	A	3: 36,104,766 (GRCm39)	I32F	possibly damaging	Het
Hmg20a	T	C	9: 56,396,012 (GRCm39)	V268A	probably benign	Het
Il2rb	T	A	15: 78,370,024 (GRCm39)	Y205F	probably damaging	Het
Ints4	A	G	7: 97,190,397 (GRCm39)	*965W	probably null	Het
Itsn2	T	A	12: 4,723,420 (GRCm39)	C1118*	probably null	Het
Jakmip1	T	C	5: 37,330,697 (GRCm39)	L459P	probably damaging	Het
Klhl8	T	C	5: 104,018,435 (GRCm39)	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,400,989 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,250,369 (GRCm39)	T79A	probably benign	Het
Napa	C	T	7: 15,843,034 (GRCm39)	R53*	probably null	Het
Nudt21	A	C	8: 94,755,508 (GRCm39)	D133E	probably benign	Het
Or2y3	T	A	17: 38,393,096 (GRCm39)	I258F	probably damaging	Het
Or4c115	T	A	2: 88,928,149 (GRCm39)	M41L	probably benign	Het
Or52b1	A	T	7: 104,978,913 (GRCm39)	I162K	probably damaging	Het
Or52s19	A	G	7: 103,007,789 (GRCm39)	V204A	possibly damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or6c7	T	C	10: 129,323,331 (GRCm39)	F151L	probably damaging	Het
Pate13	G	A	9: 35,819,740 (GRCm39)	M1I	probably null	Het
Pira13	T	C	7: 3,828,124 (GRCm39)	Y61C	probably damaging	Het
Pla2g4e	G	T	2: 120,004,851 (GRCm39)		probably null	Het
Ptbp1	T	C	10: 79,695,111 (GRCm39)		probably null	Het
Scfd2	A	C	5: 74,680,202 (GRCm39)	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,714,110 (GRCm39)	M712V	probably damaging	Het
Smg7	A	T	1: 152,717,334 (GRCm39)	L919*	probably null	Het
Sspo	T	A	6: 48,440,811 (GRCm39)	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,382,032 (GRCm39)	M165K	possibly damaging	Het
Tie1	C	T	4: 118,343,402 (GRCm39)	V154M	probably damaging	Het
Timm17a	A	G	1: 135,238,816 (GRCm39)		probably benign	Het
Tlr5	C	T	1: 182,801,076 (GRCm39)	R127*	probably null	Het
Ttc29	A	C	8: 79,003,545 (GRCm39)	I254L	possibly damaging	Het
Unc79	T	C	12: 103,079,174 (GRCm39)	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,488,646 (GRCm39)	Y584*	probably null	Het
Zbtb24	A	G	10: 41,331,171 (GRCm39)	E366G	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
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
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'- TGGACACAGAGTTTCATCATGTC -3'
(R):5'- AGGGCCTGCTCAAGATACAC -3'

Sequencing Primer
(F):5'- ACAGAGTTTCATCATGTCAGTCTCTG -3'
(R):5'- TGTGTGTGTAAGCCACCAC -3'

Posted On

2018-11-28