Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Myom2'

436926

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

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

Stock #

R5567 (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 15102546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 631 (Q631R)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably benign
Transcript: ENSMUST00000033842
AA Change: Q631R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: Q631R

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: ENSMUST00000117573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135393

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,955,168 (GRCm38)	Q374*	probably null	Het
Adam19	A	G	11: 46,136,250 (GRCm38)	D570G	probably damaging	Het
Aqr	G	A	2: 114,148,970 (GRCm38)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,808,521 (GRCm38)	M29K	probably benign	Het
Boc	G	A	16: 44,492,824 (GRCm38)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,844 (GRCm38)	T657A	probably damaging	Het
Cep104	T	C	4: 154,002,277 (GRCm38)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,040,141 (GRCm38)	Q211R	probably benign	Het
Coq6	T	A	12: 84,368,639 (GRCm38)	D145E	probably benign	Het
Crym	T	C	7: 120,201,893 (GRCm38)	E11G	probably benign	Het
Csmd3	A	T	15: 47,645,468 (GRCm38)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,886,648 (GRCm38)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm38)	D721E	probably damaging	Het
Defb36	T	A	2: 152,612,583 (GRCm38)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,192,913 (GRCm38)	E55*	probably null	Het
Dna2	G	T	10: 62,966,673 (GRCm38)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,296,824 (GRCm38)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 141,355,007 (GRCm38)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,895,267 (GRCm38)		probably benign	Het
Flnc	T	A	6: 29,444,045 (GRCm38)	C619*	probably null	Het
Ftcd	A	G	10: 76,588,133 (GRCm38)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,611,365 (GRCm38)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,208,618 (GRCm38)	A25T	probably benign	Het
Gins2	T	A	8: 120,588,945 (GRCm38)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,845,262 (GRCm38)	I22T	probably damaging	Het
Golga4	T	A	9: 118,558,183 (GRCm38)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,307,215 (GRCm38)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,857,899 (GRCm38)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297 (GRCm38)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,254,299 (GRCm38)		probably null	Het
Hs6st1	C	T	1: 36,103,638 (GRCm38)	P218L	probably benign	Het
Itpr3	C	T	17: 27,103,906 (GRCm38)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,730,199 (GRCm38)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,971,169 (GRCm38)	S228T	probably damaging	Het
Krt1	A	G	15: 101,846,905 (GRCm38)	F473S	probably benign	Het
Large1	A	G	8: 72,837,453 (GRCm38)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,832,659 (GRCm38)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,170,596 (GRCm38)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,732,024 (GRCm38)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,297,280 (GRCm38)	D128G	probably damaging	Het
Msl2	A	G	9: 101,101,737 (GRCm38)	K437E	possibly damaging	Het
Msr1	T	C	8: 39,611,719 (GRCm38)	I305V	probably benign	Het
Muc4	A	G	16: 32,777,692 (GRCm38)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,841,008 (GRCm38)	M58T	probably damaging	Het
Myo16	A	G	8: 10,322,676 (GRCm38)	D125G	probably damaging	Het
Nlrp1b	T	A	11: 71,181,403 (GRCm38)	H538L	probably benign	Het
Nme3	T	A	17: 24,896,849 (GRCm38)		probably null	Het
Nop2	T	C	6: 125,133,763 (GRCm38)	S68P	probably benign	Het
Nploc4	C	T	11: 120,384,614 (GRCm38)	V499M	probably benign	Het
Nub1	A	G	5: 24,708,816 (GRCm38)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,425,446 (GRCm38)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,282,368 (GRCm38)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,808,378 (GRCm38)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,759,650 (GRCm38)	S242F	probably damaging	Het
Parl	A	G	16: 20,283,012 (GRCm38)	M90T	probably damaging	Het
Pelo	T	C	13: 115,089,616 (GRCm38)	I102V	probably benign	Het
Pigt	T	A	2: 164,501,562 (GRCm38)	Y319*	probably null	Het
Plb1	A	G	5: 32,364,199 (GRCm38)	T1465A	unknown	Het
Plxna4	T	C	6: 32,157,980 (GRCm38)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,390,541 (GRCm38)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,527,865 (GRCm38)	P552S	probably benign	Het
Qsox2	A	G	2: 26,225,218 (GRCm38)	M1T	probably null	Het
Ralb	C	T	1: 119,483,535 (GRCm38)	V25I	probably damaging	Het
Rbbp6	A	G	7: 123,001,834 (GRCm38)		probably benign	Het
Rnf43	A	G	11: 87,727,445 (GRCm38)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,370,027 (GRCm38)	R41C	probably benign	Het
Scap	A	G	9: 110,377,644 (GRCm38)	S386G	probably damaging	Het
Skint10	T	C	4: 112,715,870 (GRCm38)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,419,786 (GRCm38)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,038,325 (GRCm38)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,711,372 (GRCm38)	G186E	probably benign	Het
Tenm4	C	A	7: 96,896,209 (GRCm38)	Y2477*	probably null	Het
Them7	A	G	2: 105,378,808 (GRCm38)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,357,805 (GRCm38)	S608A	probably benign	Het
Ttc41	T	C	10: 86,760,920 (GRCm38)		probably null	Het
Ttk	T	A	9: 83,862,535 (GRCm38)	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,359,198 (GRCm38)	V289A	possibly damaging	Het
Unc93a2	T	C	17: 7,363,803 (GRCm38)	T456A	probably benign	Het
Usp34	A	C	11: 23,488,336 (GRCm38)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,921,529 (GRCm38)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,712,074 (GRCm38)	A81V	probably damaging	Het
Xpc	T	A	6: 91,498,135 (GRCm38)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,089,457 (GRCm38)		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
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'- AGTCCTGAAGCCCCATCTAGAG -3'
(R):5'- CATTCTACTGTGGTCTCTCGAG -3'

Sequencing Primer
(F):5'- GAGCTCACTCCTTTGTAGAATATTG -3'
(R):5'- TCTCTCGAGCTCTGGGAG -3'

Posted On

2016-10-24