Mutagenetix > Incidental Mutation

Incidental Mutation 'R4834:Epm2aip1'

373078

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

041977-MU

Accession Numbers

Essential gene?

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

Stock #

R4834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111100997-111108161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111102262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 412 (R412C)

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 benign
Transcript: ENSMUST00000060711
AA Change: R412C

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134316

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

probably benign
Transcript: ENSMUST00000135807
AA Change: R412C

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200053

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,343,787 (GRCm39)	D146A	possibly damaging	Het
Acsl5	C	A	19: 55,268,991 (GRCm39)	D217E	probably benign	Het
Acss3	A	G	10: 106,920,666 (GRCm39)		probably null	Het
Adam24	G	A	8: 41,132,738 (GRCm39)	G69R	probably damaging	Het
Adgrg7	A	T	16: 56,553,232 (GRCm39)	W622R	probably damaging	Het
Ajm1	T	C	2: 25,469,530 (GRCm39)	E127G	possibly damaging	Het
Ankrd26	T	C	6: 118,500,679 (GRCm39)	M931V	probably benign	Het
Ano8	C	T	8: 71,936,939 (GRCm39)	V187M	probably damaging	Het
Ap3d1	A	T	10: 80,555,560 (GRCm39)	C348S	probably damaging	Het
Apob	T	C	12: 8,064,101 (GRCm39)	V376A	possibly damaging	Het
Arhgap21	A	T	2: 20,870,130 (GRCm39)	D925E	probably damaging	Het
Bmp6	T	A	13: 38,669,817 (GRCm39)	V367E	probably damaging	Het
Bmp8b	A	T	4: 123,016,843 (GRCm39)	Q348L	probably damaging	Het
Ccr1l1	T	C	9: 123,777,742 (GRCm39)	K235R	probably damaging	Het
Cd59a	G	A	2: 103,944,431 (GRCm39)	C93Y	probably damaging	Het
Clstn3	C	T	6: 124,408,912 (GRCm39)		probably null	Het
Col4a2	C	A	8: 11,456,836 (GRCm39)	Y236*	probably null	Het
Csn1s2a	T	C	5: 87,929,637 (GRCm39)	F79L	probably benign	Het
Cyp4a10	A	C	4: 115,383,005 (GRCm39)	Y360S	probably damaging	Het
Cyp4a29	A	T	4: 115,106,867 (GRCm39)	I175F	probably benign	Het
Dck	T	A	5: 88,920,595 (GRCm39)	I105N	probably damaging	Het
Dicer1	A	G	12: 104,662,850 (GRCm39)	L1577P	probably benign	Het
Disp2	G	A	2: 118,622,985 (GRCm39)	S1239N	probably benign	Het
Dop1b	T	C	16: 93,536,892 (GRCm39)	M1T	probably null	Het
E130308A19Rik	T	A	4: 59,690,317 (GRCm39)	C50*	probably null	Het
Elf2	A	T	3: 51,184,642 (GRCm39)	D14E	probably damaging	Het
Foxm1	T	C	6: 128,346,410 (GRCm39)	F114L	probably damaging	Het
Glcci1	C	T	6: 8,582,601 (GRCm39)	R134*	probably null	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gspt1	T	C	16: 11,040,581 (GRCm39)	K576E	probably damaging	Het
H2-M10.3	T	C	17: 36,678,286 (GRCm39)	K180E	probably benign	Het
Hecw2	A	T	1: 53,869,911 (GRCm39)	V1439E	probably damaging	Het
Hr	T	C	14: 70,797,362 (GRCm39)	S561P	probably damaging	Het
Hunk	T	C	16: 90,293,086 (GRCm39)	V456A	probably benign	Het
Il1rap	T	A	16: 26,495,685 (GRCm39)	D97E	probably damaging	Het
Inpp5d	T	G	1: 87,625,245 (GRCm39)	V474G	possibly damaging	Het
Itsn1	T	A	16: 91,703,677 (GRCm39)	L87*	probably null	Het
Izumo3	T	C	4: 92,035,208 (GRCm39)	D3G	possibly damaging	Het
Kifc2	T	A	15: 76,545,511 (GRCm39)	M1K	probably null	Het
Krt8	T	A	15: 101,907,256 (GRCm39)	I276F	probably damaging	Het
Ksr2	C	A	5: 117,806,392 (GRCm39)	Q402K	probably benign	Het
Lama2	A	G	10: 26,882,745 (GRCm39)	V2606A	probably benign	Het
Met	A	G	6: 17,491,412 (GRCm39)	H58R	probably damaging	Het
Mier3	C	T	13: 111,851,643 (GRCm39)	Q542*	probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Msl3l2	C	T	10: 55,991,655 (GRCm39)	R127C	probably damaging	Het
Naglu	T	C	11: 100,967,814 (GRCm39)	L588P	probably benign	Het
Nf1	T	C	11: 79,437,123 (GRCm39)	L2013P	probably damaging	Het
Nid1	A	G	13: 13,683,408 (GRCm39)	Y1162C	probably damaging	Het
Nlrc5	G	T	8: 95,232,113 (GRCm39)	R1313L	probably benign	Het
Nrg1	A	G	8: 32,407,747 (GRCm39)	V162A	probably benign	Het
Nup188	T	C	2: 30,229,596 (GRCm39)	L1310P	probably damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14a259	G	A	7: 86,012,952 (GRCm39)	L198F	probably benign	Het
Or4f6	A	G	2: 111,839,276 (GRCm39)	L85P	probably damaging	Het
Or5ae1	T	G	7: 84,565,491 (GRCm39)	F168C	probably damaging	Het
Pbk	T	A	14: 66,052,733 (GRCm39)	L192*	probably null	Het
Pcdhga4	T	C	18: 37,818,490 (GRCm39)	I13T	probably benign	Het
Peg10	A	T	6: 4,754,294 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,848,176 (GRCm39)	V261D	probably damaging	Het
Ppp2r5b	T	A	19: 6,280,540 (GRCm39)	T313S	possibly damaging	Het
Ptk2	A	T	15: 73,087,945 (GRCm39)		probably null	Het
Ptpn7	T	A	1: 135,065,618 (GRCm39)		probably null	Het
Rab11fip1	A	G	8: 27,643,111 (GRCm39)	S563P	probably damaging	Het
Scn1a	A	T	2: 66,158,866 (GRCm39)	C351*	probably null	Het
Slc10a5	A	T	3: 10,399,859 (GRCm39)	V267D	probably damaging	Het
Slc37a2	T	A	9: 37,146,404 (GRCm39)	M368L	probably damaging	Het
Slc49a4	T	A	16: 35,555,945 (GRCm39)	T172S	probably benign	Het
Slc6a20b	T	A	9: 123,425,113 (GRCm39)	T585S	probably benign	Het
Srcap	T	C	7: 127,156,782 (GRCm39)		probably null	Het
Tbx18	T	C	9: 87,609,502 (GRCm39)	M178V	possibly damaging	Het
Tmprss11b	C	A	5: 86,811,418 (GRCm39)	C172F	probably damaging	Het
Traf5	T	C	1: 191,751,198 (GRCm39)	Q91R	probably benign	Het
Trappc8	A	T	18: 20,958,122 (GRCm39)	Y1248N	probably damaging	Het
Trpa1	A	G	1: 14,966,747 (GRCm39)	L539S	possibly damaging	Het
Tyrp1	T	A	4: 80,764,833 (GRCm39)	Y3*	probably null	Het
Ubr7	A	T	12: 102,727,761 (GRCm39)	K94N	probably damaging	Het
Ugt2a1	C	A	5: 87,633,894 (GRCm39)		probably null	Het
Unc50	T	A	1: 37,471,710 (GRCm39)	I120K	probably damaging	Het
Usp28	T	C	9: 48,912,836 (GRCm39)	V29A	probably damaging	Het
Usp9y	A	G	Y: 1,317,002 (GRCm39)	I1849T	probably benign	Het
Vmn2r102	T	A	17: 19,898,203 (GRCm39)	V406E	probably damaging	Het
Vmn2r4	G	A	3: 64,317,484 (GRCm39)	R85W	probably benign	Het
Xirp2	A	G	2: 67,346,750 (GRCm39)	D2997G	probably benign	Het
Zc2hc1c	A	T	12: 85,336,982 (GRCm39)	E213V	probably damaging	Het
Zfp420	C	T	7: 29,573,759 (GRCm39)		probably benign	Het
Zfp641	C	T	15: 98,191,585 (GRCm39)	E34K	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
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
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'- TGTTTGAACAACTGGCTGAGAAG -3'
(R):5'- CTTTCTGTAGGCGGGAGATC -3'

Sequencing Primer
(F):5'- CAACTGGCTGAGAAGAGGCAAAAC -3'
(R):5'- CGGGAGATCACCATTTGATACCTG -3'

Posted On

2016-03-01