Incidental Mutation 'IGL01876:Api5'
| ID |
178913 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Api5
|
| Ensembl Gene |
ENSMUSG00000027193 |
| Gene Name |
apoptosis inhibitor 5 |
| Synonyms |
AAC-11 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
IGL01876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
94242073-94268490 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 94249299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028617]
|
| AlphaFold |
O35841 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028617
|
| SMART Domains |
Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:API5
|
4 |
504 |
8.9e-201 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152454
|
| 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 an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Arhgap1 |
A |
G |
2: 91,480,564 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Or5ac17 |
A |
G |
16: 59,036,382 (GRCm39) |
V198A |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,577 (GRCm39) |
L798P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc2a1 |
G |
A |
4: 118,990,575 (GRCm39) |
D236N |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly damaging |
Het |
|
| Other mutations in Api5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02203:Api5
|
APN |
2 |
94,255,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02346:Api5
|
APN |
2 |
94,257,875 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02605:Api5
|
APN |
2 |
94,260,064 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02646:Api5
|
APN |
2 |
94,260,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0018:Api5
|
UTSW |
2 |
94,251,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0149:Api5
|
UTSW |
2 |
94,253,842 (GRCm39) |
nonsense |
probably null |
|
|
R0361:Api5
|
UTSW |
2 |
94,253,842 (GRCm39) |
nonsense |
probably null |
|
|
R1554:Api5
|
UTSW |
2 |
94,255,988 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2507:Api5
|
UTSW |
2 |
94,260,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Api5
|
UTSW |
2 |
94,255,958 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3724:Api5
|
UTSW |
2 |
94,255,958 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3737:Api5
|
UTSW |
2 |
94,255,958 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3738:Api5
|
UTSW |
2 |
94,255,958 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4035:Api5
|
UTSW |
2 |
94,255,958 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4724:Api5
|
UTSW |
2 |
94,253,816 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5306:Api5
|
UTSW |
2 |
94,253,811 (GRCm39) |
nonsense |
probably null |
|
|
R5337:Api5
|
UTSW |
2 |
94,256,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6577:Api5
|
UTSW |
2 |
94,252,726 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7031:Api5
|
UTSW |
2 |
94,255,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7936:Api5
|
UTSW |
2 |
94,268,392 (GRCm39) |
start gained |
probably benign |
|
|
R8921:Api5
|
UTSW |
2 |
94,255,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Api5
|
UTSW |
2 |
94,251,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation