Incidental Mutation 'IGL02328:Ei24'
| ID |
288586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ei24
|
| Ensembl Gene |
ENSMUSG00000062762 |
| Gene Name |
etoposide induced 2.4 mRNA |
| Synonyms |
PIG8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36690449-36708630 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 36696827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115086]
[ENSMUST00000163192]
[ENSMUST00000184395]
|
| AlphaFold |
Q61070 |
| Predicted Effect |
probably null
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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217339
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation