Mutagenetix > Incidental Mutation

Incidental Mutation 'R9644:Epm2aip1'

726151

Institutional Source

Beutler Lab

Gene Symbol

Epm2aip1

Ensembl Gene

ENSMUSG00000046785

Gene Name

EPM2A interacting protein 1

Synonyms

A930003G21Rik, EPM2A (laforin) interacting protein 1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9644 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111100997-111108161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111102137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 370 (T370I)

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: T370I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

probably damaging
Transcript: ENSMUST00000135807
AA Change: T370I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,270,752 (GRCm39)	S32*	probably null	Het
Adam34	T	A	8: 44,104,766 (GRCm39)	H293L	probably damaging	Het
Adgrl3	A	G	5: 81,872,036 (GRCm39)	N910S	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ankrd36	A	G	11: 5,593,835 (GRCm39)	D480G	possibly damaging	Het
Aox4	T	A	1: 58,267,278 (GRCm39)	D185E	probably benign	Het
Apol8	C	A	15: 77,633,695 (GRCm39)	V294L	probably damaging	Het
Arsk	G	A	13: 76,220,227 (GRCm39)	A289V	probably damaging	Het
Atg101	A	G	15: 101,188,447 (GRCm39)	D184G	probably benign	Het
Atp10b	C	T	11: 43,042,659 (GRCm39)	T73I	probably damaging	Het
Ccn4	T	G	15: 66,784,785 (GRCm39)	C153G		Het
Ccser2	A	T	14: 36,601,150 (GRCm39)	N411K	possibly damaging	Het
Cct5	A	G	15: 31,601,845 (GRCm39)	S3P	probably benign	Het
Chn1	A	T	2: 73,490,184 (GRCm39)	I31K	probably benign	Het
Clec2e	T	A	6: 129,070,443 (GRCm39)	I193L	probably benign	Het
Crim1	G	A	17: 78,587,497 (GRCm39)	G201R	probably damaging	Het
Ctrc	A	G	4: 141,572,336 (GRCm39)	V68A	probably damaging	Het
Dennd4c	T	A	4: 86,713,363 (GRCm39)	I438N	probably damaging	Het
Dnah5	T	A	15: 28,230,650 (GRCm39)	W183R	probably damaging	Het
Dnali1	T	A	4: 124,950,402 (GRCm39)	I253F	probably damaging	Het
Dyrk1b	T	C	7: 27,881,790 (GRCm39)	L83P	probably damaging	Het
Emx2	T	C	19: 59,452,427 (GRCm39)	I237T	probably benign	Het
Enpp3	C	T	10: 24,685,801 (GRCm39)	R198K	probably damaging	Het
Epb41l1	C	T	2: 156,367,165 (GRCm39)	P678L	possibly damaging	Het
Fam184a	T	G	10: 53,573,342 (GRCm39)	Q346P	probably damaging	Het
Foxi2	A	C	7: 135,013,727 (GRCm39)	H319P	possibly damaging	Het
Gatad1	A	G	5: 3,691,442 (GRCm39)	V250A	possibly damaging	Het
Gmeb1	T	C	4: 131,959,440 (GRCm39)	I205V	probably benign	Het
Gucy2g	C	G	19: 55,219,537 (GRCm39)	V362L	probably benign	Het
Hace1	T	C	10: 45,526,001 (GRCm39)	S281P	probably benign	Het
Helz	C	A	11: 107,563,687 (GRCm39)	A1709D	unknown	Het
Igf2bp2	T	A	16: 21,902,735 (GRCm39)	N115Y	probably damaging	Het
Igkv4-86	C	T	6: 68,887,593 (GRCm39)	V49I	probably benign	Het
Kdm2b	A	T	5: 123,120,842 (GRCm39)	V101E	probably damaging	Het
Kidins220	A	G	12: 25,061,018 (GRCm39)	D790G	probably damaging	Het
Kif18a	A	G	2: 109,171,517 (GRCm39)	T865A	probably benign	Het
Kif1b	A	G	4: 149,375,836 (GRCm39)	V10A	probably damaging	Het
Kmt2d	A	T	15: 98,743,385 (GRCm39)	M3925K	unknown	Het
Mcee	G	T	7: 64,061,730 (GRCm39)	A178S	possibly damaging	Het
Megf10	A	T	18: 57,375,773 (GRCm39)	H233L	probably benign	Het
Meox1	T	A	11: 101,769,482 (GRCm39)	E238V	probably benign	Het
Myo5a	G	A	9: 75,043,631 (GRCm39)	G207R	probably damaging	Het
Nemf	T	A	12: 69,359,436 (GRCm39)	N966I	possibly damaging	Het
Or10q3	T	C	19: 11,848,574 (GRCm39)	E2G	probably benign	Het
Or1j14	A	T	2: 36,417,777 (GRCm39)	M118L	probably damaging	Het
Or5b123	G	T	19: 13,597,344 (GRCm39)	A230S	probably benign	Het
Or6c204	A	G	10: 129,022,738 (GRCm39)	I184T	possibly damaging	Het
Pfas	T	C	11: 68,883,542 (GRCm39)	Q662R	probably benign	Het
Phf2	G	T	13: 49,024,218 (GRCm39)	C8*	probably null	Het
Pkhd1	T	A	1: 20,617,690 (GRCm39)	N965I	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prb1b	T	A	6: 132,289,218 (GRCm39)	Q202L	unknown	Het
Prdm8	A	T	5: 98,333,638 (GRCm39)	T402S	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Prtg	T	A	9: 72,813,493 (GRCm39)	I951K	probably damaging	Het
Rasgef1b	A	T	5: 99,380,014 (GRCm39)	Y288*	probably null	Het
Sacs	T	A	14: 61,443,428 (GRCm39)	C1825S	probably benign	Het
Slc22a12	G	C	19: 6,587,673 (GRCm39)	P427R	probably damaging	Het
Slfn3	A	G	11: 83,105,728 (GRCm39)	Y575C	probably damaging	Het
St18	C	T	1: 6,929,276 (GRCm39)	T56I		Het
Synrg	T	C	11: 83,910,696 (GRCm39)	L876S	probably damaging	Het
Tchh	T	C	3: 93,354,666 (GRCm39)	C1369R	unknown	Het
Tet2	G	A	3: 133,193,064 (GRCm39)	Q457*	probably null	Het
Thap12	T	C	7: 98,364,495 (GRCm39)	V221A	probably damaging	Het
Tor3a	T	A	1: 156,501,126 (GRCm39)	D104V	probably damaging	Het
Trpc2	T	C	7: 101,744,439 (GRCm39)	V737A	possibly damaging	Het
Trpc4	A	G	3: 54,129,699 (GRCm39)	Y155C	probably damaging	Het
Tspyl1	T	C	10: 34,159,135 (GRCm39)	S287P	possibly damaging	Het
Ube2u	TAGAAGAAGAAGAAGAAGAAGAAGAAGA	TAGAAGAAGAAGAAGAAGAAGAAGA	4: 100,406,943 (GRCm39)		probably benign	Het
Ubr2	A	G	17: 47,266,706 (GRCm39)		probably null	Het
Vmn1r238	T	A	18: 3,122,635 (GRCm39)	T260S	probably benign	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
G1citation:Epm2aip1	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

Predicted Primers

PCR Primer
(F):5'- ATTAAGACCAGAGGTGTTAGGC -3'
(R):5'- CGATTATACTGAAGGCAGGAAAGTC -3'

Sequencing Primer
(F):5'- TTAGGCGACCGGAGTTTCAGC -3'
(R):5'- GGCAGGAAAGTCTGTTAGATTTAC -3'

Posted On

2022-09-12