Incidental Mutation 'IGL01940:Ei24'
| ID |
180858 |
| 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 # |
IGL01940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36690449-36708630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36693687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 288
(F288L)
|
| 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: F288L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: F288L
| 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: F288L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: F288L
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
| Alkbh3 |
G |
A |
2: 93,811,940 (GRCm39) |
T231I |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
| Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,229,535 (GRCm39) |
V575A |
probably benign |
Het |
| Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
| Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
| Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,012 (GRCm39) |
Y450C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,453,805 (GRCm39) |
N469I |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
| Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
| Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
| Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
| Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
| Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
| Zbtb26 |
A |
T |
2: 37,325,987 (GRCm39) |
C350S |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation