Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Myom2'

210060

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15057653-15133541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15081023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 320 (D320Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033842
AA Change: D320Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: D320Y

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,957,098 (GRCm38)	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Alg11	T	G	8: 22,065,568 (GRCm38)	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624 (GRCm38)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844 (GRCm38)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763 (GRCm38)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259 (GRCm38)	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148 (GRCm38)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090 (GRCm38)		probably null	Het
Btnl10	C	A	11: 58,920,541 (GRCm38)	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489 (GRCm38)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,226,575 (GRCm38)	D292E	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cic	C	A	7: 25,286,840 (GRCm38)	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749 (GRCm38)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699 (GRCm38)	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494 (GRCm38)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369 (GRCm38)	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558 (GRCm38)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562 (GRCm38)	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629 (GRCm38)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455 (GRCm38)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817 (GRCm38)	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032 (GRCm38)	D555E	probably benign	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Garre1	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
Gm10684	A	G	9: 45,110,213 (GRCm38)		probably benign	Het
Gm12185	T	C	11: 48,915,404 (GRCm38)	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476 (GRCm38)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837 (GRCm38)	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556 (GRCm38)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684 (GRCm38)	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124 (GRCm38)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910 (GRCm38)		probably null	Het
Hs3st6	A	G	17: 24,758,136 (GRCm38)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511 (GRCm38)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144 (GRCm38)	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841 (GRCm38)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834 (GRCm38)	I58F	probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222 (GRCm38)	V1499E	probably damaging	Het
Or11g7	T	A	14: 50,453,838 (GRCm38)	M262K	probably damaging	Het
Or13a27	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Or2r11	C	T	6: 42,460,426 (GRCm38)	V198M	probably benign	Het
Or2t26	A	C	11: 49,148,274 (GRCm38)	N6H	possibly damaging	Het
Or4c115	G	A	2: 89,097,544 (GRCm38)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,974,059 (GRCm38)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,289,068 (GRCm38)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685 (GRCm38)	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148 (GRCm38)	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720 (GRCm38)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277 (GRCm38)	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990 (GRCm38)	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904 (GRCm38)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308 (GRCm38)	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497 (GRCm38)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,281,988 (GRCm38)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm38)	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Ssu2	A	T	6: 112,384,427 (GRCm38)	L23M	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279 (GRCm38)		probably null	Het
Tekt1	T	C	11: 72,351,935 (GRCm38)	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692 (GRCm38)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109 (GRCm38)	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107 (GRCm38)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207 (GRCm38)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559 (GRCm38)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545 (GRCm38)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041 (GRCm38)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442 (GRCm38)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570 (GRCm38)	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230 (GRCm38)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220 (GRCm38)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898 (GRCm38)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548 (GRCm38)	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155 (GRCm38)	P191L	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
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
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'- TCTATAGCCAGGCAAGGAAGC -3'
(R):5'- GATGTTCAAGGCCAATTCCC -3'

Sequencing Primer
(F):5'- CATGCTGGGCGCTAACTGTATC -3'
(R):5'- TCAAGGCCAATTCCCTGGGTC -3'

Posted On

2014-06-30