Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Epm2aip1'

168969

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

039548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R1497 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

111100997-111108161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111101315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 96 (E96G)

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

possibly damaging
Transcript: ENSMUST00000060711
AA Change: E96G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134316

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135807
AA Change: E96G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200053

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,864,647 (GRCm39)		probably benign	Het
Abhd17a	A	G	10: 80,420,164 (GRCm39)		probably benign	Het
Acacb	G	A	5: 114,334,868 (GRCm39)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,916,743 (GRCm39)	M262V	probably benign	Het
Anapc7	T	A	5: 122,573,578 (GRCm39)		probably benign	Het
Car5b	T	A	X: 162,771,400 (GRCm39)	K188N	probably benign	Het
Caskin1	C	T	17: 24,723,515 (GRCm39)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm39)	S331P	probably benign	Het
Ccdc68	C	T	18: 70,093,585 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,673,300 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,064 (GRCm39)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,479,788 (GRCm39)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,453,123 (GRCm39)	F608S	probably damaging	Het
Col7a1	A	C	9: 108,807,893 (GRCm39)	E2531A	unknown	Het
Ctc1	T	A	11: 68,913,387 (GRCm39)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,223 (GRCm39)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,419,898 (GRCm39)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,908,924 (GRCm39)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,626,213 (GRCm39)		probably benign	Het
Dnah17	A	T	11: 118,005,059 (GRCm39)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,971,049 (GRCm39)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,913,733 (GRCm39)	S424R	probably damaging	Het
Ezr	T	C	17: 7,010,107 (GRCm39)	H314R	probably benign	Het
Fam193b	G	T	13: 55,702,247 (GRCm39)	H43Q	probably damaging	Het
Fam217a	T	A	13: 35,095,195 (GRCm39)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,292,109 (GRCm39)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,127,076 (GRCm39)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,481,169 (GRCm39)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,477,098 (GRCm39)	V36A	probably benign	Het
Hspg2	A	G	4: 137,275,407 (GRCm39)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,455,194 (GRCm39)		probably null	Het
Ipo13	T	C	4: 117,761,856 (GRCm39)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,472,610 (GRCm39)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,973,715 (GRCm39)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,519,513 (GRCm39)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,724,310 (GRCm39)	F235S	probably damaging	Het
Maml1	A	C	11: 50,156,534 (GRCm39)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,384,689 (GRCm39)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,147,393 (GRCm39)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,433,453 (GRCm39)	Q34*	probably null	Het
Mcu	T	A	10: 59,284,670 (GRCm39)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,048,951 (GRCm39)	P199T	probably benign	Het
Mndal	A	T	1: 173,700,441 (GRCm39)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,438,611 (GRCm39)	C23F	probably benign	Het
Mup15	T	A	4: 61,356,471 (GRCm39)	Y98F	probably benign	Het
Myh8	T	C	11: 67,180,638 (GRCm39)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,830,282 (GRCm39)		probably benign	Het
Nlrp4e	T	C	7: 23,019,797 (GRCm39)	S95P	probably benign	Het
Or1e19	T	A	11: 73,316,653 (GRCm39)	D52V	possibly damaging	Het
Or4a66	T	C	2: 88,531,106 (GRCm39)	D189G	probably damaging	Het
Otop2	A	G	11: 115,220,675 (GRCm39)		probably null	Het
Pcnx4	G	C	12: 72,621,174 (GRCm39)	G998A	probably benign	Het
Pnkd	C	A	1: 74,390,681 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,573,204 (GRCm39)	V701E	probably benign	Het
Ryr2	A	G	13: 11,616,727 (GRCm39)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,784,401 (GRCm39)		probably benign	Het
Serpinb5	A	T	1: 106,803,782 (GRCm39)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,234,778 (GRCm39)	V975D	probably benign	Het
Shc1	A	G	3: 89,335,752 (GRCm39)	*470W	probably null	Het
Sik3	T	A	9: 46,113,320 (GRCm39)	V587E	probably damaging	Het
Sik3	C	A	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Spata7	T	C	12: 98,635,120 (GRCm39)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,812,963 (GRCm39)	V1469D	probably benign	Het
Tasor2	T	C	13: 3,620,409 (GRCm39)	E2164G	probably damaging	Het
Tdrd5	A	T	1: 156,083,372 (GRCm39)	N888K	probably benign	Het
Tex22	T	C	12: 113,039,000 (GRCm39)	S34P	probably benign	Het
Tmed6	T	C	8: 107,790,754 (GRCm39)	T98A	probably benign	Het
Trim66	G	A	7: 109,083,826 (GRCm39)	P141L	probably benign	Het
Trpa1	T	C	1: 14,956,036 (GRCm39)	I778V	probably benign	Het
Urb2	T	A	8: 124,754,816 (GRCm39)	H174Q	probably damaging	Het
Usb1	T	C	8: 96,065,325 (GRCm39)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,114,394 (GRCm39)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,311,219 (GRCm39)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,805,160 (GRCm39)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,387,625 (GRCm39)	V210A	probably benign	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Zfp768	T	A	7: 126,942,733 (GRCm39)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,821,105 (GRCm39)	N617Y	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
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'- CGAAATCTCCAGCCAATAGGAACGG -3'
(R):5'- ACAAGTCAATGCCTTCCAGGACG -3'

Sequencing Primer
(F):5'- CTCCGCAGAATGTGGATGAC -3'
(R):5'- CCTTCCAGGACGCCGAC -3'

Posted On

2014-04-13