Incidental Mutation 'IGL01336:Ei24'
ID |
74649 |
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 # |
IGL01336
|
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 G
at 36697777 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 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 null
Transcript: ENSMUST00000184235
|
Predicted Effect |
probably null
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: ENSMUST00000185124
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
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 |
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 |
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 |
2013-10-07 |