Incidental Mutation 'IGL02734:Apip'
| ID |
305592 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apip
|
| Ensembl Gene |
ENSMUSG00000010911 |
| Gene Name |
APAF1 interacting protein |
| Synonyms |
APIP2, CGI-29, Mmrp19 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
102904020-102922989 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 102919889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011055]
|
| AlphaFold |
Q9WVQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011055
|
| SMART Domains |
Protein: ENSMUSP00000011055
Gene: ENSMUSG00000010911
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
25 |
221 |
1.64e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,506,349 (GRCm39) |
D114V |
probably damaging |
Het |
| Adam26a |
A |
G |
8: 44,022,812 (GRCm39) |
V226A |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,018,633 (GRCm39) |
V525E |
probably benign |
Het |
| Bak1 |
A |
G |
17: 27,239,927 (GRCm39) |
V203A |
possibly damaging |
Het |
| Bche |
T |
A |
3: 73,609,409 (GRCm39) |
T6S |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,484,737 (GRCm39) |
V493D |
probably damaging |
Het |
| Cstf3 |
T |
A |
2: 104,439,539 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,502,042 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
G |
T |
15: 85,111,182 (GRCm39) |
C112F |
probably damaging |
Het |
| Gm12695 |
G |
A |
4: 96,612,267 (GRCm39) |
R499* |
probably null |
Het |
| Igdcc4 |
T |
G |
9: 65,038,738 (GRCm39) |
S887A |
possibly damaging |
Het |
| Itgb4 |
G |
T |
11: 115,896,792 (GRCm39) |
R1470L |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,990,280 (GRCm39) |
E480G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,639,628 (GRCm39) |
F497L |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,440,303 (GRCm39) |
I48V |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,883 (GRCm39) |
D84A |
possibly damaging |
Het |
| Or5t5 |
T |
C |
2: 86,616,712 (GRCm39) |
Y213H |
probably benign |
Het |
| Prl7a2 |
A |
T |
13: 27,843,190 (GRCm39) |
D204E |
probably benign |
Het |
| Shd |
A |
G |
17: 56,278,632 (GRCm39) |
Y65C |
probably damaging |
Het |
| Slc25a39 |
A |
G |
11: 102,295,349 (GRCm39) |
V207A |
probably benign |
Het |
| Sptlc2 |
T |
C |
12: 87,402,444 (GRCm39) |
T161A |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tacc2 |
G |
T |
7: 130,227,829 (GRCm39) |
V1505L |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,182,118 (GRCm39) |
K76E |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,157,849 (GRCm39) |
I353T |
unknown |
Het |
|
| Other mutations in Apip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Apip
|
APN |
2 |
102,922,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01631:Apip
|
APN |
2 |
102,904,194 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01736:Apip
|
APN |
2 |
102,917,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB006:Apip
|
UTSW |
2 |
102,913,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Apip
|
UTSW |
2 |
102,913,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1patch:Apip
|
UTSW |
2 |
102,922,870 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0256:Apip
|
UTSW |
2 |
102,918,916 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1518:Apip
|
UTSW |
2 |
102,919,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Apip
|
UTSW |
2 |
102,919,007 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4930:Apip
|
UTSW |
2 |
102,922,226 (GRCm39) |
nonsense |
probably null |
|
|
R6292:Apip
|
UTSW |
2 |
102,922,812 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6300:Apip
|
UTSW |
2 |
102,917,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6725:Apip
|
UTSW |
2 |
102,922,870 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6759:Apip
|
UTSW |
2 |
102,922,191 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6843:Apip
|
UTSW |
2 |
102,922,834 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6968:Apip
|
UTSW |
2 |
102,919,798 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7168:Apip
|
UTSW |
2 |
102,922,813 (GRCm39) |
nonsense |
probably null |
|
|
R7494:Apip
|
UTSW |
2 |
102,922,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Apip
|
UTSW |
2 |
102,913,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8492:Apip
|
UTSW |
2 |
102,922,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation