Mutagenetix > Incidental Mutation

Incidental Mutation 'R8292:Myom2'

638745

Institutional Source

Beutler Lab

Gene Symbol

Myom2

Ensembl Gene

ENSMUSG00000031461

Gene Name

myomesin 2

Synonyms

MMRRC Submission

067782-MU

Accession Numbers

Essential gene?

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

Stock #

R8292 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15107653-15183410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15182888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1442 (I1442V)

Ref Sequence

ENSEMBL: ENSMUSP00000033842 (fasta)

Gene Model

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

AlphaFold

Q14BI5

Predicted Effect

probably benign
Transcript: ENSMUST00000033842
AA Change: I1442V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033842
Gene: ENSMUSG00000031461
AA Change: I1442V

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,555 (GRCm39)		probably null	Het
Akirin2	T	C	4: 34,566,007 (GRCm39)		probably null	Het
Akr1c14	A	G	13: 4,130,995 (GRCm39)	D229G	possibly damaging	Het
Arfgef1	T	C	1: 10,227,194 (GRCm39)	I1382V	probably benign	Het
Bcas3	C	A	11: 85,348,729 (GRCm39)	A207D	probably damaging	Het
Bcl2l10	T	C	9: 75,255,160 (GRCm39)		probably benign	Het
Cdc42	T	C	4: 137,063,384 (GRCm39)	T3A	probably benign	Het
Celsr1	C	A	15: 85,791,819 (GRCm39)	W2594L	possibly damaging	Het
Chrna6	A	T	8: 27,896,754 (GRCm39)	H374Q	probably benign	Het
Cibar1	T	G	4: 12,153,963 (GRCm39)	T330P	possibly damaging	Het
Clcnka	G	A	4: 141,125,272 (GRCm39)	R30*	probably null	Het
Clptm1l	A	T	13: 73,765,854 (GRCm39)	H464L	probably damaging	Het
Col6a4	A	T	9: 105,954,076 (GRCm39)	M421K	probably benign	Het
Crybg2	T	C	4: 133,802,842 (GRCm39)	S873P	probably damaging	Het
Dixdc1	A	G	9: 50,621,989 (GRCm39)	V114A	probably benign	Het
Etv6	T	C	6: 134,225,509 (GRCm39)	C247R	probably benign	Het
Farp2	T	C	1: 93,456,350 (GRCm39)	L11S	probably damaging	Het
Gbp2	G	A	3: 142,329,584 (GRCm39)	V44M	probably damaging	Het
Get4	A	G	5: 139,248,686 (GRCm39)	D99G	probably null	Het
Glcci1	G	A	6: 8,558,549 (GRCm39)	R212H	probably damaging	Het
Gm14295	T	A	2: 176,501,351 (GRCm39)	F280L	probably damaging	Het
Gm5407	T	A	16: 49,117,550 (GRCm39)	N70Y	noncoding transcript	Het
Hace1	C	G	10: 45,587,557 (GRCm39)	Y885*	probably null	Het
Hectd4	G	A	5: 121,455,288 (GRCm39)	R644Q	possibly damaging	Het
Impg2	A	T	16: 56,080,989 (GRCm39)	E931V	probably damaging	Het
Kif5c	A	T	2: 49,625,497 (GRCm39)	Y589F	probably benign	Het
Krr1	T	A	10: 111,813,021 (GRCm39)	V132E	possibly damaging	Het
Luzp1	T	G	4: 136,269,764 (GRCm39)	D662E	probably benign	Het
Mc4r	A	T	18: 66,993,082 (GRCm39)	Y10*	probably null	Het
Mfng	T	C	15: 78,657,370 (GRCm39)	I35V	probably benign	Het
Mprip	T	A	11: 59,650,340 (GRCm39)	I1348K	probably benign	Het
Mrgprb3	G	T	7: 48,293,255 (GRCm39)	Q99K	probably benign	Het
Mrgprb4	A	T	7: 47,848,554 (GRCm39)	S125T	probably damaging	Het
Mrgprg	A	T	7: 143,318,656 (GRCm39)	M152K	probably benign	Het
Muc5ac	A	C	7: 141,363,000 (GRCm39)	I2104L	unknown	Het
Nell1	T	C	7: 49,907,995 (GRCm39)	C385R	probably damaging	Het
Nid2	T	G	14: 19,818,346 (GRCm39)	V280G	probably damaging	Het
Npr2	T	A	4: 43,643,086 (GRCm39)	M490K	possibly damaging	Het
Prr12	A	G	7: 44,684,112 (GRCm39)	F1643L	probably damaging	Het
Psg16	G	A	7: 16,827,701 (GRCm39)	G128D	probably damaging	Het
Racgap1	A	T	15: 99,520,127 (GRCm39)	L595*	probably null	Het
Rbbp8	T	C	18: 11,838,769 (GRCm39)	V150A	probably benign	Het
Rbbp9	T	C	2: 144,390,017 (GRCm39)	T49A	probably benign	Het
Rbm20	C	A	19: 53,839,930 (GRCm39)	T973K	possibly damaging	Het
Robo1	A	T	16: 72,769,420 (GRCm39)	I582F	possibly damaging	Het
Rps6ka5	A	T	12: 100,644,791 (GRCm39)	V53D	possibly damaging	Het
Slc35f6	G	T	5: 30,813,375 (GRCm39)	V156L	probably benign	Het
Smpd3	T	C	8: 106,991,422 (GRCm39)	H377R	probably benign	Het
Son	G	A	16: 91,453,545 (GRCm39)	S764N	possibly damaging	Het
Srgn	A	T	10: 62,343,447 (GRCm39)	V16D	possibly damaging	Het
Tex14	G	A	11: 87,388,664 (GRCm39)	R297Q	probably damaging	Het
Tiam2	T	C	17: 3,557,142 (GRCm39)	V1194A	probably benign	Het
Tlr6	A	C	5: 65,111,134 (GRCm39)	L591R	probably damaging	Het
Tmem143	A	G	7: 45,558,964 (GRCm39)	K302R	probably damaging	Het
Ttc28	A	G	5: 111,371,123 (GRCm39)	Y555C	probably damaging	Het
Usp32	T	A	11: 84,968,227 (GRCm39)	K145N	probably damaging	Het
Zbtb40	T	C	4: 136,726,878 (GRCm39)	Y486C	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
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
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'- ACAAGGACATTGAGCTCAGC -3'
(R):5'- TTGCATCGCAAAGTGCAAG -3'

Sequencing Primer
(F):5'- TCAGCGAGCACTTCTTGG -3'
(R):5'- AAACCTAGTGTACGGTCGC -3'

Posted On

2020-07-28