Mutagenetix > Incidental Mutation

Incidental Mutation 'G1citation:Epm2aip1'

660736

Institutional Source

Beutler Lab

Gene Symbol

Epm2aip1

Ensembl Gene

ENSMUSG00000046785

Gene Name

EPM2A interacting protein 1

Synonyms

A930003G21Rik, EPM2A (laforin) interacting protein 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

G1citation (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111100997-111108161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111101624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000120245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035079] [ENSMUST00000060711] [ENSMUST00000135218] [ENSMUST00000135807]

AlphaFold

Q8VEH5

Predicted Effect

probably benign
Transcript: ENSMUST00000035079

SMART Domains

Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498

Domain	Start	End	E-Value	Type
HATPase_c	23	158	4.57e-1	SMART
DNA_mis_repair	216	335	1.08e-44	SMART
low complexity region	363	375	N/A	INTRINSIC
low complexity region	429	454	N/A	INTRINSIC
Pfam:Mlh1_C	504	760	8.3e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060711
AA Change: V199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

probably damaging
Transcript: ENSMUST00000135807
AA Change: V199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.5925

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

94% (46/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased anxiety-related response, decreased liver glycogen storage and synthesis, hepatic steatosis, improved glucose tolerance and decreased hepatic insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	G	A	11: 102,667,501 (GRCm39)	R687Q	possibly damaging	Het
AI987944	A	G	7: 41,024,232 (GRCm39)	L249P	probably damaging	Het
Ankrd28	T	A	14: 31,458,797 (GRCm39)		probably null	Het
Bahcc1	T	C	11: 120,178,547 (GRCm39)	S2369P	probably damaging	Het
Birc6	T	C	17: 74,887,377 (GRCm39)	S902P	possibly damaging	Het
Birc6	A	T	17: 74,905,039 (GRCm39)	K1277N	probably damaging	Het
Brwd1	T	C	16: 95,842,474 (GRCm39)	E821G	probably benign	Het
Cct8l1	T	C	5: 25,722,937 (GRCm39)	S551P	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cyp2c39	A	T	19: 39,525,261 (GRCm39)	D188V	probably damaging	Het
Dclk3	G	T	9: 111,268,405 (GRCm39)	A25S	probably benign	Het
Dpep2	A	T	8: 106,711,873 (GRCm39)	M518K	probably benign	Het
Dst	T	C	1: 34,314,755 (GRCm39)	V6462A	probably damaging	Het
Entpd3	T	C	9: 120,391,104 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,689,504 (GRCm39)		probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fcgbp	T	A	7: 27,806,781 (GRCm39)	Y2250N	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
H2-Aa	C	T	17: 34,506,651 (GRCm39)		probably null	Het
Igsf9	T	A	1: 172,324,730 (GRCm39)	S883T	possibly damaging	Het
Kcnh7	T	G	2: 62,618,248 (GRCm39)	I414L	probably damaging	Het
Kcnma1	T	C	14: 24,053,812 (GRCm39)		probably null	Het
Kcnmb1	T	C	11: 33,914,686 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,747,340 (GRCm39)		probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Nlgn1	T	C	3: 26,187,796 (GRCm39)	T30A	probably benign	Het
Nucb1	A	G	7: 45,148,289 (GRCm39)	F175L	probably damaging	Het
Pax6	T	A	2: 105,516,268 (GRCm39)	V182E	probably benign	Het
Ptger1	A	G	8: 84,395,279 (GRCm39)	D252G	probably benign	Het
Rexo4	T	C	2: 26,850,283 (GRCm39)	D275G	probably damaging	Het
Ripk4	T	C	16: 97,547,236 (GRCm39)	D342G	probably damaging	Het
Rpl10l	A	T	12: 66,330,987 (GRCm39)	C49S	possibly damaging	Het
Sema7a	T	C	9: 57,867,619 (GRCm39)	F457S	probably damaging	Het
Shank3	G	A	15: 89,415,830 (GRCm39)	D155N	probably damaging	Het
Smpd3	G	A	8: 106,992,596 (GRCm39)		probably benign	Het
Smpd4	T	C	16: 17,458,097 (GRCm39)	V465A	probably damaging	Het
Sohlh2	T	C	3: 55,115,107 (GRCm39)	V364A	probably damaging	Het
Sos2	C	T	12: 69,697,423 (GRCm39)	R99Q	probably damaging	Het
Spry2	G	A	14: 106,130,791 (GRCm39)	Q132*	probably null	Het
Tbx19	G	T	1: 164,967,709 (GRCm39)	P346Q	probably damaging	Het
Tdrd6	A	G	17: 43,938,106 (GRCm39)	Y981H	probably damaging	Het
Tinag	T	C	9: 76,938,984 (GRCm39)	K165E	probably benign	Het
Tubb4a	A	T	17: 57,387,904 (GRCm39)	I374N	probably damaging	Het
Umodl1	C	T	17: 31,205,528 (GRCm39)	Q708*	probably null	Het
Vmn2r3	A	T	3: 64,194,876 (GRCm39)	V14E	probably benign	Het
Zfp82	G	A	7: 29,755,712 (GRCm39)	L457F	probably damaging	Het

Other mutations in Epm2aip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Epm2aip1	APN	9	111,101,855 (GRCm39)	missense	possibly damaging	0.89
IGL01309:Epm2aip1	APN	9	111,102,596 (GRCm39)	missense	probably benign	0.01
IGL02815:Epm2aip1	APN	9	111,102,628 (GRCm39)	missense	probably benign
Lafora	UTSW	9	111,101,624 (GRCm39)	missense	probably damaging	1.00
R0066:Epm2aip1	UTSW	9	111,101,531 (GRCm39)	missense	probably benign
R0066:Epm2aip1	UTSW	9	111,101,531 (GRCm39)	missense	probably benign
R0548:Epm2aip1	UTSW	9	111,102,409 (GRCm39)	missense	probably damaging	1.00
R0854:Epm2aip1	UTSW	9	111,101,567 (GRCm39)	nonsense	probably null
R1497:Epm2aip1	UTSW	9	111,101,315 (GRCm39)	missense	possibly damaging	0.92
R4012:Epm2aip1	UTSW	9	111,101,458 (GRCm39)	missense	probably benign	0.41
R4722:Epm2aip1	UTSW	9	111,101,152 (GRCm39)	small deletion	probably benign
R4741:Epm2aip1	UTSW	9	111,101,681 (GRCm39)	missense	probably benign	0.06
R4834:Epm2aip1	UTSW	9	111,102,262 (GRCm39)	missense	probably benign	0.13
R5037:Epm2aip1	UTSW	9	111,101,218 (GRCm39)	missense	probably benign	0.00
R5045:Epm2aip1	UTSW	9	111,102,427 (GRCm39)	missense	possibly damaging	0.95
R5174:Epm2aip1	UTSW	9	111,102,455 (GRCm39)	missense	probably damaging	1.00
R6822:Epm2aip1	UTSW	9	111,101,624 (GRCm39)	missense	probably damaging	1.00
R7262:Epm2aip1	UTSW	9	111,101,728 (GRCm39)	missense	probably benign	0.01
R7472:Epm2aip1	UTSW	9	111,101,467 (GRCm39)	missense	probably damaging	1.00
R7693:Epm2aip1	UTSW	9	111,101,443 (GRCm39)	missense	probably benign
R7860:Epm2aip1	UTSW	9	111,101,105 (GRCm39)	missense	probably damaging	1.00
R8987:Epm2aip1	UTSW	9	111,101,036 (GRCm39)	missense	probably benign	0.16
R9566:Epm2aip1	UTSW	9	111,101,807 (GRCm39)	missense	probably damaging	1.00
R9644:Epm2aip1	UTSW	9	111,102,137 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGACTTCGTACACCAGTGCATG -3'
(R):5'- GCCGATCATCCTTAAAGTGTGG -3'

Sequencing Primer
(F):5'- GGCGTCCTGGAAGGCATTG -3'
(R):5'- ATCATCCTTAAAGTGTGGGTCGTG -3'

Posted On

2021-02-01