Incidental Mutation 'IGL02112:Ei24'
ID |
280217 |
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 # |
IGL02112
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
36690449-36708630 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36693638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 305
(Y305N)
|
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: Y305N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110738 Gene: ENSMUSG00000062762 AA Change: Y305N
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: Y305N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132270 Gene: ENSMUSG00000062762 AA Change: Y305N
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,175 (GRCm39) |
Y490F |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,092,446 (GRCm39) |
H271Q |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,917,640 (GRCm39) |
D181E |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,444,919 (GRCm39) |
Y286F |
possibly damaging |
Het |
Atf2 |
T |
C |
2: 73,649,381 (GRCm39) |
K352R |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,174,308 (GRCm39) |
T2076I |
probably benign |
Het |
C1s2 |
A |
G |
6: 124,602,267 (GRCm39) |
V642A |
probably benign |
Het |
Cldn18 |
T |
A |
9: 99,580,128 (GRCm39) |
T170S |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,853 (GRCm39) |
H977Q |
probably benign |
Het |
Col15a1 |
T |
A |
4: 47,253,985 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,131,719 (GRCm39) |
Y1669N |
probably benign |
Het |
Csmd3 |
A |
C |
15: 48,177,265 (GRCm39) |
S424R |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,428,180 (GRCm39) |
D306G |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,920,145 (GRCm39) |
T377A |
probably benign |
Het |
Edil3 |
A |
G |
13: 89,328,374 (GRCm39) |
D276G |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,844 (GRCm39) |
N181D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,837,099 (GRCm39) |
Q494R |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,291 (GRCm39) |
I80T |
probably damaging |
Het |
Haus8 |
T |
A |
8: 71,708,205 (GRCm39) |
E163V |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,993,111 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,852,184 (GRCm39) |
|
probably null |
Het |
Liat1 |
G |
T |
11: 75,894,214 (GRCm39) |
C197F |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,176,961 (GRCm39) |
C437S |
probably damaging |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,088 (GRCm39) |
V126D |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,884,629 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
T |
A |
9: 19,831,821 (GRCm39) |
N105K |
possibly damaging |
Het |
Panx2 |
A |
G |
15: 88,953,772 (GRCm39) |
T576A |
probably benign |
Het |
Per3 |
T |
C |
4: 151,113,640 (GRCm39) |
Y306C |
probably benign |
Het |
Ppm1h |
G |
A |
10: 122,638,305 (GRCm39) |
G192R |
possibly damaging |
Het |
Prss22 |
T |
C |
17: 24,212,945 (GRCm39) |
E264G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,635,042 (GRCm39) |
|
probably benign |
Het |
Rpl7a-ps8 |
C |
A |
7: 19,687,985 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,425 (GRCm39) |
D377G |
probably benign |
Het |
Sh3bp1 |
T |
C |
15: 78,790,084 (GRCm39) |
|
probably null |
Het |
Sobp |
A |
G |
10: 42,897,873 (GRCm39) |
S571P |
probably benign |
Het |
Styxl2 |
C |
A |
1: 165,927,240 (GRCm39) |
E791* |
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,545 (GRCm39) |
M114I |
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,940,242 (GRCm39) |
R269W |
probably damaging |
Het |
Tmprss13 |
T |
C |
9: 45,250,702 (GRCm39) |
S408P |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,602 (GRCm39) |
T706A |
probably benign |
Het |
Tpcn2 |
A |
G |
7: 144,810,529 (GRCm39) |
S603P |
probably benign |
Het |
Trmt12 |
A |
T |
15: 58,744,665 (GRCm39) |
Q21L |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,787 (GRCm39) |
G104S |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,231,833 (GRCm39) |
W611R |
probably benign |
Het |
Vmn2r90 |
C |
A |
17: 17,932,465 (GRCm39) |
T124K |
probably damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,600,494 (GRCm39) |
E506G |
probably null |
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 |
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 |
2015-04-16 |