Mutagenetix > Incidental Mutation

Incidental Mutation 'R2047:Ei24'

222123

Institutional Source

Beutler Lab

Gene Symbol

Ei24

Ensembl Gene

ENSMUSG00000062762

Gene Name

etoposide induced 2.4 mRNA

Synonyms

PIG8

MMRRC Submission

040054-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36690449-36708630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36691459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 341 (K341E)

Ref Sequence

ENSEMBL: ENSMUSP00000132270 (fasta)

Gene Model

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

AlphaFold

Q61070

Predicted Effect

probably benign
Transcript: ENSMUST00000115086
AA Change: K341E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: K341E

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
AA Change: K341E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: K341E

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: ENSMUST00000183422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185124

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	A	G	7: 130,747,836 (GRCm39)	F52S	probably damaging	Het
Acot12	T	C	13: 91,931,122 (GRCm39)	S457P	probably damaging	Het
Adcy5	G	A	16: 35,110,478 (GRCm39)	V882M	possibly damaging	Het
Ahnak	A	G	19: 8,991,664 (GRCm39)	D4316G	possibly damaging	Het
Aldh1l2	G	A	10: 83,342,607 (GRCm39)	A401V	probably damaging	Het
Apol7e	A	G	15: 77,601,810 (GRCm39)	H136R	probably benign	Het
Arl5a	A	G	2: 52,302,072 (GRCm39)		probably null	Het
Asns	G	T	6: 7,680,093 (GRCm39)	A341E	probably damaging	Het
C7	A	G	15: 5,075,143 (GRCm39)	L183P	probably damaging	Het
Cacng2	C	T	15: 78,003,037 (GRCm39)	A19T	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,575 (GRCm39)	N374S	probably benign	Het
Ccr4	A	G	9: 114,321,633 (GRCm39)	F144S	probably damaging	Het
Ckap2	A	G	8: 22,658,763 (GRCm39)	V660A	probably benign	Het
Cramp1	A	T	17: 25,222,189 (GRCm39)	Y176*	probably null	Het
Dgki	A	G	6: 36,890,581 (GRCm39)	S922P	possibly damaging	Het
Drd5	C	T	5: 38,477,679 (GRCm39)	S224L	probably damaging	Het
Eno2	A	T	6: 124,744,659 (GRCm39)		probably benign	Het
Epb41l4a	T	C	18: 33,961,259 (GRCm39)	N425S	probably benign	Het
F13b	T	G	1: 139,435,961 (GRCm39)	C256G	probably damaging	Het
Gp6	A	T	7: 4,376,270 (GRCm39)		probably benign	Het
H2-Q7	A	T	17: 35,659,123 (GRCm39)	R191S	probably damaging	Het
Ivns1abp	T	A	1: 151,227,382 (GRCm39)	S63R	possibly damaging	Het
Kcnj16	A	G	11: 110,915,946 (GRCm39)		probably null	Het
Lpcat4	T	C	2: 112,075,142 (GRCm39)		probably null	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Maml3	C	A	3: 51,597,866 (GRCm39)	R939S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Mrpl46	T	A	7: 78,431,312 (GRCm39)	Y82F	probably damaging	Het
Mthfs	T	A	9: 89,097,356 (GRCm39)	I71N	probably damaging	Het
Nectin4	T	C	1: 171,212,720 (GRCm39)	V351A	possibly damaging	Het
Npas3	T	C	12: 54,115,612 (GRCm39)	F827L	probably damaging	Het
Nrp1	G	A	8: 129,224,577 (GRCm39)		probably benign	Het
Ocln	C	A	13: 100,671,632 (GRCm39)	A242S	probably damaging	Het
Or10ad1c	T	A	15: 98,084,920 (GRCm39)	T253S	probably damaging	Het
Or13g1	G	A	7: 85,956,012 (GRCm39)	T103I	probably damaging	Het
Or5d37	A	T	2: 87,924,237 (GRCm39)	N14K	probably benign	Het
Pappa	T	C	4: 65,149,378 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,698,752 (GRCm39)	T480A	probably benign	Het
Pycr1	A	T	11: 120,532,512 (GRCm39)	D168E	possibly damaging	Het
Rnf6	T	C	5: 146,148,674 (GRCm39)	T126A	probably damaging	Het
Slc25a39	G	A	11: 102,296,657 (GRCm39)		probably benign	Het
Slc35f4	G	T	14: 49,541,029 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,768,772 (GRCm39)	A112T	probably damaging	Het
Sptbn1	A	C	11: 30,088,360 (GRCm39)		probably benign	Het
Sqle	T	C	15: 59,197,907 (GRCm39)	Y376H	probably benign	Het
Terb1	A	T	8: 105,212,094 (GRCm39)	Y296N	probably damaging	Het
Ttbk2	T	C	2: 120,579,397 (GRCm39)	H506R	probably damaging	Het
Ttn	T	C	2: 76,737,879 (GRCm39)	D4220G	probably benign	Het
Tub	A	G	7: 108,625,939 (GRCm39)	D230G	probably benign	Het
Ube2d3	T	A	3: 135,170,967 (GRCm39)	I137K	probably benign	Het
Vldlr	G	T	19: 27,212,238 (GRCm39)	C84F	probably damaging	Het
Vmn1r54	A	T	6: 90,246,970 (GRCm39)	I295F	probably damaging	Het
Vmn2r56	A	G	7: 12,466,918 (GRCm39)	S39P	probably damaging	Het
Zfp358	A	G	8: 3,545,934 (GRCm39)	H172R	probably damaging	Het
Zfp619	T	C	7: 39,187,062 (GRCm39)	C1031R	probably damaging	Het
Zfp777	A	G	6: 48,021,280 (GRCm39)	I114T	probably benign	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
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
R5125:Ei24	UTSW	9	36,693,742 (GRCm39)	unclassified	probably benign
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'- GGAAAACTCTGGTCCTTACAGAC -3'
(R):5'- GCTGTAATAGGCTTAAAGCGG -3'

Sequencing Primer
(F):5'- TCCTTACAGACCTAGGGTGG -3'
(R):5'- AGCGGTTATTTTGATCAACTGGAAGC -3'

Posted On

2014-08-25