Incidental Mutation 'IGL01898:Aqp11'
| ID |
179458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aqp11
|
| Ensembl Gene |
ENSMUSG00000042797 |
| Gene Name |
aquaporin 11 |
| Synonyms |
sjds, 1700015P13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97375586-97387454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97375870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 260
(W260R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000206389]
|
| AlphaFold |
Q8BHH1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000084986
AA Change: W204R
|
| SMART Domains |
Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: W204R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
Pfam:MIP
|
71 |
254 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206389
AA Change: W260R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display premature death, kidney failure, polycystic kidneys with cysts originating from the proximal tubules, and growth retardation. Mice homozygous for an ENU-induced mutation are apparently healthy but exhibit sudden death between2 and 3 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
A |
T |
2: 154,394,633 (GRCm39) |
D195V |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,962 (GRCm39) |
T390A |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,231,281 (GRCm39) |
N431S |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,395,161 (GRCm39) |
S351A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,582,939 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,825,725 (GRCm39) |
F292L |
possibly damaging |
Het |
| F830104G03Rik |
G |
A |
3: 56,797,637 (GRCm39) |
Q97* |
probably null |
Het |
| Fam171a2 |
T |
C |
11: 102,330,582 (GRCm39) |
T267A |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,876 (GRCm39) |
K69* |
probably null |
Het |
| Mios |
T |
C |
6: 8,222,668 (GRCm39) |
I534T |
probably benign |
Het |
| Nus1 |
A |
G |
10: 52,306,163 (GRCm39) |
D185G |
probably benign |
Het |
| Proc |
A |
G |
18: 32,266,198 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
A |
12: 71,031,448 (GRCm39) |
H36Q |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,885,352 (GRCm39) |
A412S |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,728,727 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,041,428 (GRCm39) |
S1297R |
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,304 (GRCm39) |
D293G |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,589,912 (GRCm39) |
M342K |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,851,935 (GRCm39) |
M425V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Aqp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02685:Aqp11
|
APN |
7 |
97,386,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0023:Aqp11
|
UTSW |
7 |
97,375,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0023:Aqp11
|
UTSW |
7 |
97,375,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0062:Aqp11
|
UTSW |
7 |
97,387,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0463:Aqp11
|
UTSW |
7 |
97,378,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1937:Aqp11
|
UTSW |
7 |
97,386,725 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2126:Aqp11
|
UTSW |
7 |
97,386,692 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3079:Aqp11
|
UTSW |
7 |
97,386,795 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3844:Aqp11
|
UTSW |
7 |
97,387,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Aqp11
|
UTSW |
7 |
97,386,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5578:Aqp11
|
UTSW |
7 |
97,386,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Aqp11
|
UTSW |
7 |
97,386,635 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7549:Aqp11
|
UTSW |
7 |
97,387,284 (GRCm39) |
start gained |
probably benign |
|
|
R7618:Aqp11
|
UTSW |
7 |
97,386,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Aqp11
|
UTSW |
7 |
97,378,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation