Incidental Mutation 'IGL00954:Ei24'
| ID |
28218 |
| 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 # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36690449-36708630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36701166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 51
(I51N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115086]
[ENSMUST00000163192]
[ENSMUST00000184395]
|
| AlphaFold |
Q61070 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115086
AA Change: I51N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: I51N
| 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 damaging
Transcript: ENSMUST00000163192
AA Change: I51N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: I51N
| 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: ENSMUST00000183360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183430
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184235
AA Change: I43N
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184395
AA Change: I51N
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762
AA Change: I51N
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably 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 |
|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation