Incidental Mutation 'R3723:Api5'
| ID |
270618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Api5
|
| Ensembl Gene |
ENSMUSG00000027193 |
| Gene Name |
apoptosis inhibitor 5 |
| Synonyms |
AAC-11 |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94242073-94268490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94255958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 243
(R243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028617]
|
| AlphaFold |
O35841 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028617
AA Change: R243Q
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: R243Q
| 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
|
| Meta Mutation Damage Score |
0.1242 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,239,991 (GRCm39) |
C97* |
probably null |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTCTTGCTGCCTTGGG -3'
(R):5'- AAATGCTGTTCTTCTCGATTGCG -3'
Sequencing Primer
(F):5'- TGGGTTCTTCCAGTGCCGC -3'
(R):5'- TTCTAGGTCCTAGAAGACGTGAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation