Incidental Mutation 'IGL02580:Aqp8'
| ID |
299335 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aqp8
|
| Ensembl Gene |
ENSMUSG00000030762 |
| Gene Name |
aquaporin 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
IGL02580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
123061517-123067226 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 123065953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033023]
[ENSMUST00000098056]
|
| AlphaFold |
P56404 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033023
|
| SMART Domains |
Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
30 |
245 |
1.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098056
|
| SMART Domains |
Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
10 |
176 |
6.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206106
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene results in enlarged testes and a reduction in water permeability in plasma membrane of testes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,204,147 (GRCm39) |
I49N |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,703,008 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,375,650 (GRCm39) |
T63A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,638 (GRCm39) |
L1398S |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,493,305 (GRCm39) |
S397C |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,942 (GRCm39) |
V177D |
probably damaging |
Het |
| Elmo3 |
A |
T |
8: 106,035,126 (GRCm39) |
D419V |
probably damaging |
Het |
| Fabp1 |
T |
C |
6: 71,180,128 (GRCm39) |
S100P |
probably damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,564,256 (GRCm39) |
N485I |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,636 (GRCm39) |
T51A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,501,398 (GRCm39) |
I184T |
probably benign |
Het |
| Map2k6 |
G |
A |
11: 110,381,667 (GRCm39) |
R71H |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,384,309 (GRCm39) |
S257P |
probably damaging |
Het |
| Nusap1 |
T |
C |
2: 119,479,371 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,512 (GRCm39) |
R1699G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,916,157 (GRCm39) |
N363S |
probably damaging |
Het |
| Or51g1 |
C |
T |
7: 102,633,909 (GRCm39) |
S154N |
probably damaging |
Het |
| Or9m2 |
T |
C |
2: 87,820,857 (GRCm39) |
V134A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,717,205 (GRCm39) |
|
probably null |
Het |
| Plch2 |
G |
A |
4: 155,069,221 (GRCm39) |
T1135I |
probably benign |
Het |
| Riox2 |
G |
A |
16: 59,306,936 (GRCm39) |
V276I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,418 (GRCm39) |
D144G |
probably damaging |
Het |
| Usp40 |
C |
A |
1: 87,908,688 (GRCm39) |
|
probably null |
Het |
| Vars2 |
G |
A |
17: 35,971,777 (GRCm39) |
A73V |
possibly damaging |
Het |
|
| Other mutations in Aqp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Aqp8
|
APN |
7 |
123,063,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Aqp8
|
APN |
7 |
123,065,802 (GRCm39) |
splice site |
probably benign |
|
|
R0024:Aqp8
|
UTSW |
7 |
123,066,663 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1387:Aqp8
|
UTSW |
7 |
123,065,891 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1402:Aqp8
|
UTSW |
7 |
123,065,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Aqp8
|
UTSW |
7 |
123,065,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Aqp8
|
UTSW |
7 |
123,065,889 (GRCm39) |
nonsense |
probably null |
|
|
R5901:Aqp8
|
UTSW |
7 |
123,061,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7622:Aqp8
|
UTSW |
7 |
123,065,883 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7913:Aqp8
|
UTSW |
7 |
123,063,495 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8808:Aqp8
|
UTSW |
7 |
123,065,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Aqp8
|
UTSW |
7 |
123,061,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation