Incidental Mutation 'IGL02646:Api5'
| ID |
301960 |
| 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: 0.923)
|
| Stock # |
IGL02646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
94242073-94268490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94260184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 24
(H24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028617]
|
| AlphaFold |
O35841 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028617
AA Change: H24L
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: H24L
| 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: ENSMUST00000150930
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
A |
4: 137,182,101 (GRCm39) |
Y85* |
probably null |
Het |
| Abcg2 |
A |
G |
6: 58,662,681 (GRCm39) |
I508V |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,913,075 (GRCm39) |
|
probably null |
Het |
| Apoh |
T |
C |
11: 108,302,968 (GRCm39) |
V311A |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,484,255 (GRCm39) |
V2994L |
possibly damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,080 (GRCm39) |
V918D |
probably damaging |
Het |
| Calr3 |
T |
G |
8: 73,197,304 (GRCm39) |
D43A |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,348,737 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,995,548 (GRCm39) |
S2033P |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,564,194 (GRCm39) |
T1955M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,385,331 (GRCm39) |
D390G |
possibly damaging |
Het |
| Fank1 |
C |
T |
7: 133,481,758 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
T |
11: 96,177,570 (GRCm39) |
Y6F |
possibly damaging |
Het |
| Hspg2 |
A |
C |
4: 137,279,159 (GRCm39) |
S3081R |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,892 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,212 (GRCm39) |
I1762T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,622 (GRCm39) |
D445G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,697 (GRCm39) |
Y35C |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,330,622 (GRCm39) |
I827F |
possibly damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,551 (GRCm39) |
D51G |
probably benign |
Het |
| Rnls |
C |
A |
19: 33,115,684 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,129,962 (GRCm39) |
|
probably null |
Het |
| Sec22b |
T |
A |
3: 97,828,561 (GRCm39) |
V208E |
possibly damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,868 (GRCm39) |
I317N |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,834,043 (GRCm39) |
Y9H |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,529,473 (GRCm39) |
T1910N |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,753 (GRCm39) |
I47F |
probably damaging |
Het |
| Tedc1 |
T |
G |
12: 113,120,921 (GRCm39) |
L118V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,278 (GRCm39) |
S1090T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,812,311 (GRCm39) |
D511G |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,110,669 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,946 (GRCm39) |
L748Q |
probably damaging |
Het |
| Zp2 |
T |
C |
7: 119,734,564 (GRCm39) |
D495G |
possibly damaging |
Het |
|
| Other mutations in Api5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Api5
|
APN |
2 |
94,249,299 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation