Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Myom2'

566803

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

045402-MU

Accession Numbers

Essential gene?

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

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15148411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 529 (L529P)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033842
AA Change: L529P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: L529P

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,106 (GRCm39)	T51S	probably benign	Het
Abcc1	A	G	16: 14,214,336 (GRCm39)	D204G	possibly damaging	Het
Acaa1b	C	T	9: 118,980,915 (GRCm39)	E172K	probably benign	Het
Adamts5	G	A	16: 85,696,806 (GRCm39)	T117I	probably benign	Het
Agmat	A	G	4: 141,474,275 (GRCm39)	E52G	possibly damaging	Het
Alg9	C	T	9: 50,690,361 (GRCm39)	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,027,032 (GRCm39)	I100T	possibly damaging	Het
Calm2	T	C	17: 87,750,165 (GRCm39)		probably null	Het
Cfap44	A	T	16: 44,301,775 (GRCm39)	M1838L	probably benign	Het
Cym	A	G	3: 107,127,009 (GRCm39)	Y49H	probably benign	Het
Dchs1	G	A	7: 105,404,338 (GRCm39)	R2735*	probably null	Het
Dnajc6	T	C	4: 101,463,808 (GRCm39)	I187T	probably benign	Het
Fam151a	G	T	4: 106,592,725 (GRCm39)	R69L	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,966,961 (GRCm39)	G97V	unknown	Het
Hacl1	A	T	14: 31,338,443 (GRCm39)	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-82	A	T	12: 115,916,574 (GRCm39)	I6N	possibly damaging	Het
Kctd19	A	C	8: 106,109,616 (GRCm39)	V942G	probably benign	Het
Lce1l	C	T	3: 92,757,483 (GRCm39)	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,449 (GRCm39)	F42S	probably damaging	Het
Nectin3	A	T	16: 46,268,759 (GRCm39)	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or4c12b	T	C	2: 89,646,865 (GRCm39)	F59S	probably damaging	Het
Or6aa1	T	A	7: 86,044,131 (GRCm39)	T192S	probably damaging	Het
Otof	T	A	5: 30,545,614 (GRCm39)	I514F	probably damaging	Het
Pira12	T	A	7: 3,898,264 (GRCm39)	I353F	possibly damaging	Het
Plch1	G	T	3: 63,623,458 (GRCm39)	S603*	probably null	Het
Ppa1	T	A	10: 61,502,691 (GRCm39)	D171E	probably benign	Het
Pramel23	C	A	4: 143,425,075 (GRCm39)	D123Y	probably benign	Het
Prss34	T	C	17: 25,518,737 (GRCm39)	C240R	probably damaging	Het
Ptpre	A	G	7: 135,285,016 (GRCm39)	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,633,936 (GRCm39)	F157L	probably benign	Het
Rbbp6	A	G	7: 122,600,417 (GRCm39)	K1475E	unknown	Het
Retnlg	A	G	16: 48,693,237 (GRCm39)	N5D	probably benign	Het
Rev1	T	C	1: 38,092,185 (GRCm39)	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927 (GRCm39)	L360F	probably damaging	Het
Scrib	A	C	15: 75,936,610 (GRCm39)	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,598,684 (GRCm39)	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,539,343 (GRCm39)		probably benign	Het
Spag16	T	A	1: 69,958,585 (GRCm39)		probably null	Het
Stx3	C	T	19: 11,767,412 (GRCm39)	W87*	probably null	Het
Syngap1	T	A	17: 27,181,961 (GRCm39)	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,741,107 (GRCm39)	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,887,242 (GRCm39)	S54N	probably benign	Het
Tyk2	C	T	9: 21,020,156 (GRCm39)	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,709,065 (GRCm39)	V15A	probably benign	Het
Uhrf2	A	G	19: 30,065,949 (GRCm39)	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,449,979 (GRCm39)	I75N	probably benign	Het
Zfp346	T	G	13: 55,278,416 (GRCm39)	V258G	probably damaging	Het
Zfp87	T	A	13: 74,520,513 (GRCm39)	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,377,299 (GRCm39)	S848*	probably null	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
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
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'- TTCTGAGAGGAAATGACCAACTG -3'
(R):5'- CCCTCTTATACAACAGGGATCAG -3'

Sequencing Primer
(F):5'- CCACACCAGGGAAGTTTTTG -3'
(R):5'- CAGGGATCAGACTCTATAGGGACC -3'

Posted On

2019-06-26