Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Epm2aip1'

354546

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

041987-MU

Accession Numbers

Essential gene?

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

Stock #

R4722 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

111100997-111108161 bp(+) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

TGTCGCCG to TG at 111101152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134316

Predicted Effect

probably benign
Transcript: ENSMUST00000135218

Predicted Effect

probably benign
Transcript: ENSMUST00000135807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200053

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abca17	A	G	17: 24,484,403 (GRCm39)	F1620L	probably damaging	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Amz2	C	T	11: 109,325,457 (GRCm39)	L272F	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Med27	T	A	2: 29,414,447 (GRCm39)	D290E	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or10ak12	T	C	4: 118,666,146 (GRCm39)	N305S	probably damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	Het
Zic4	G	T	9: 91,261,257 (GRCm39)	G164C	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
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'- TCTCCAGCCAATAGGAACGG -3'
(R):5'- GACCCTTCAAGGCCAAGAAG -3'

Sequencing Primer
(F):5'- TGATCTGGCGCAGAACCCAG -3'
(R):5'- CCAAGAAGCGGCAGAGGC -3'

Posted On

2015-10-21