Mutagenetix > Incidental Mutation

Incidental Mutation 'R5125:Ei24'

453136

Institutional Source

Beutler Lab

Gene Symbol

Ei24

Ensembl Gene

ENSMUSG00000062762

Gene Name

etoposide induced 2.4 mRNA

Synonyms

PIG8

MMRRC Submission

042713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5125 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36690449-36708630 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 36693742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]

AlphaFold

Q61070

Predicted Effect

probably benign
Transcript: ENSMUST00000115086

SMART Domains

Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762

Domain	Start	End	E-Value	Type
Pfam:EI24	61	290	2.5e-48	PFAM
low complexity region	331	339	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163192

SMART Domains

Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762

Domain	Start	End	E-Value	Type
low complexity region	55	71	N/A	INTRINSIC
Pfam:EI24	77	289	3.8e-24	PFAM
low complexity region	331	339	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183430

Predicted Effect

probably benign
Transcript: ENSMUST00000184235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185124

Predicted Effect

probably benign
Transcript: ENSMUST00000184395

SMART Domains

Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762

Domain	Start	End	E-Value	Type
Pfam:EI24	58	181	4.8e-19	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

96% (49/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted allele do not survive to the neonatal stage. [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
Abt1	G	T	13: 23,606,819 (GRCm39)	A94E	possibly damaging	Het
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dcc	A	G	18: 71,589,948 (GRCm39)	F683L	probably benign	Het
Denr	A	T	5: 124,065,144 (GRCm39)	I166F	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Exo5	A	T	4: 120,778,734 (GRCm39)		probably null	Het
Gm7356	T	C	17: 14,221,576 (GRCm39)	D151G	probably damaging	Het
Grin1	T	C	2: 25,186,839 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,900,297 (GRCm39)	V195M	possibly damaging	Het
Hephl1	T	A	9: 14,997,468 (GRCm39)	K399N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kmt2c	A	G	5: 25,489,379 (GRCm39)	V4520A	probably damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lmx1a	C	T	1: 167,658,256 (GRCm39)	S213L	possibly damaging	Het
Ly6g6d	A	G	17: 35,293,418 (GRCm39)	I8T	possibly damaging	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Med12l	G	A	3: 59,174,635 (GRCm39)	G1851D	possibly damaging	Het
Or13c7b	T	A	4: 43,820,480 (GRCm39)	I294F	probably benign	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
P2rx2	G	A	5: 110,490,517 (GRCm39)	T66I	possibly damaging	Het
Pcdh15	A	G	10: 74,419,912 (GRCm39)	E1197G	probably damaging	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Rbm39	A	T	2: 156,004,785 (GRCm39)	M184K	probably damaging	Het
Reln	A	G	5: 22,118,239 (GRCm39)	V2935A	possibly damaging	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Sh3rf3	C	G	10: 58,967,012 (GRCm39)	P785A	probably benign	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Slc24a3	T	C	2: 145,360,767 (GRCm39)	V120A	possibly damaging	Het
Sost	C	T	11: 101,854,767 (GRCm39)	G181R	probably damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Stim2	T	C	5: 54,267,939 (GRCm39)	S87P	probably damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Ugt2b38	A	G	5: 87,559,671 (GRCm39)	M407T	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Zc3h6	A	G	2: 128,856,399 (GRCm39)	H493R	possibly damaging	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Znfx1	A	T	2: 166,888,859 (GRCm39)	V783E	possibly damaging	Het

Other mutations in Ei24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Ei24	APN	9	36,695,774 (GRCm39)	nonsense	probably null
IGL00954:Ei24	APN	9	36,701,166 (GRCm39)	missense	probably damaging	0.96
IGL01336:Ei24	APN	9	36,697,777 (GRCm39)	critical splice donor site	probably null
IGL01940:Ei24	APN	9	36,693,687 (GRCm39)	missense	probably damaging	1.00
IGL02112:Ei24	APN	9	36,693,638 (GRCm39)	missense	probably damaging	0.99
IGL02328:Ei24	APN	9	36,696,827 (GRCm39)	critical splice donor site	probably null
IGL03251:Ei24	APN	9	36,691,405 (GRCm39)	makesense	probably null
PIT4378001:Ei24	UTSW	9	36,697,320 (GRCm39)	missense	probably damaging	1.00
R0673:Ei24	UTSW	9	36,699,551 (GRCm39)	critical splice acceptor site	probably null
R2047:Ei24	UTSW	9	36,691,459 (GRCm39)	missense	probably benign	0.03
R2280:Ei24	UTSW	9	36,693,635 (GRCm39)	critical splice donor site	probably null
R4863:Ei24	UTSW	9	36,695,861 (GRCm39)	missense	probably damaging	1.00
R5999:Ei24	UTSW	9	36,704,603 (GRCm39)	missense	probably benign	0.06
R7515:Ei24	UTSW	9	36,701,211 (GRCm39)	missense	probably damaging	1.00
R8366:Ei24	UTSW	9	36,697,800 (GRCm39)	missense	possibly damaging	0.92
R8836:Ei24	UTSW	9	36,701,498 (GRCm39)	missense
R9099:Ei24	UTSW	9	36,697,270 (GRCm39)	missense	probably damaging	1.00
R9156:Ei24	UTSW	9	36,697,327 (GRCm39)	missense	probably damaging	0.99
R9331:Ei24	UTSW	9	36,701,217 (GRCm39)	missense	possibly damaging	0.90
R9405:Ei24	UTSW	9	36,694,137 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CATGGGGTTATCACAGCAATAGTAAG -3'
(R):5'- GTACCAGCATGTTACATCATTTGACC -3'

Sequencing Primer
(F):5'- GTTATCACAGCAATAGTAAGTAACCC -3'
(R):5'- GCCTCCTGGAGGAAAATA -3'

Posted On

2017-01-27