Incidental Mutation 'IGL02389:Aqp9'
| ID |
291695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aqp9
|
| Ensembl Gene |
ENSMUSG00000032204 |
| Gene Name |
aquaporin 9 |
| Synonyms |
1700020I22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL02389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
71017941-71075170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71030188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 200
(I200V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060917]
[ENSMUST00000074465]
[ENSMUST00000113570]
[ENSMUST00000144618]
|
| AlphaFold |
Q9JJJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060917
AA Change: I226V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: I226V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:MIP
|
58 |
288 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074465
AA Change: I200V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: I200V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113570
AA Change: I200V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: I200V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144618
|
| SMART Domains |
Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
164 |
9.4e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213527
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the aquaglyceroporin subfamily of aquaporins. This protein transports water, glycerol, urea, purines and pyrimidines and plays a role in glycerol metabolism and osteoclast differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
A |
5: 64,053,826 (GRCm39) |
S11N |
probably null |
Het |
| Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
| Dennd3 |
A |
G |
15: 73,438,905 (GRCm39) |
D1091G |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,589,567 (GRCm39) |
|
probably benign |
Het |
| Dscam |
T |
A |
16: 96,442,097 (GRCm39) |
I1577F |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,279,559 (GRCm39) |
N482K |
probably benign |
Het |
| Fam216a |
T |
C |
5: 122,505,574 (GRCm39) |
T129A |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,136 (GRCm39) |
M325V |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,267,020 (GRCm39) |
V148M |
possibly damaging |
Het |
| Fcgbp |
C |
T |
7: 27,774,596 (GRCm39) |
R57C |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Gria2 |
T |
C |
3: 80,616,729 (GRCm39) |
T408A |
probably benign |
Het |
| H2-T3 |
A |
G |
17: 36,497,500 (GRCm39) |
M59T |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,258,187 (GRCm39) |
Q278* |
probably null |
Het |
| Krtap21-1 |
C |
T |
16: 89,200,312 (GRCm39) |
G110D |
unknown |
Het |
| Myo7a |
C |
T |
7: 97,756,198 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,093,632 (GRCm39) |
Q11L |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,138,336 (GRCm39) |
L141P |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,651,899 (GRCm39) |
D110V |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,336,939 (GRCm39) |
M62K |
probably benign |
Het |
| Or6c8 |
A |
C |
10: 128,915,099 (GRCm39) |
I244M |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,825 (GRCm39) |
I525T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,574,506 (GRCm39) |
L280* |
probably null |
Het |
| Pik3r4 |
T |
G |
9: 105,527,530 (GRCm39) |
I294M |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Prmt3 |
C |
T |
7: 49,498,506 (GRCm39) |
Q471* |
probably null |
Het |
| Prrc2c |
A |
G |
1: 162,520,439 (GRCm39) |
F2006L |
probably damaging |
Het |
| Ptger3 |
C |
T |
3: 157,272,808 (GRCm39) |
R52C |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,115,325 (GRCm39) |
|
probably benign |
Het |
| Sh3bp4 |
T |
C |
1: 89,072,870 (GRCm39) |
F573L |
probably damaging |
Het |
| Slc18a2 |
G |
T |
19: 59,251,733 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,857,624 (GRCm39) |
I840F |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,908,299 (GRCm39) |
Y364* |
probably null |
Het |
| Slitrk1 |
A |
G |
14: 109,149,754 (GRCm39) |
I319T |
probably benign |
Het |
| Stxbp5l |
C |
T |
16: 37,028,567 (GRCm39) |
A499T |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,861,503 (GRCm39) |
S951R |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,031,381 (GRCm39) |
F478S |
probably benign |
Het |
| Tyro3 |
C |
T |
2: 119,635,345 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,042 (GRCm39) |
L232Q |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,315,816 (GRCm39) |
C215S |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,782,043 (GRCm39) |
P1995S |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,790,364 (GRCm39) |
V2106D |
possibly damaging |
Het |
|
| Other mutations in Aqp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Aqp9
|
APN |
9 |
71,040,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Aqp9
|
APN |
9 |
71,037,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL01667:Aqp9
|
APN |
9 |
71,045,495 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02225:Aqp9
|
APN |
9 |
71,037,829 (GRCm39) |
splice site |
probably benign |
|
|
IGL02551:Aqp9
|
APN |
9 |
71,039,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02904:Aqp9
|
APN |
9 |
71,045,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0411:Aqp9
|
UTSW |
9 |
71,037,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0751:Aqp9
|
UTSW |
9 |
71,045,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Aqp9
|
UTSW |
9 |
71,045,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1731:Aqp9
|
UTSW |
9 |
71,030,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1733:Aqp9
|
UTSW |
9 |
71,019,624 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1865:Aqp9
|
UTSW |
9 |
71,019,658 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4058:Aqp9
|
UTSW |
9 |
71,037,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4756:Aqp9
|
UTSW |
9 |
71,070,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Aqp9
|
UTSW |
9 |
71,030,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Aqp9
|
UTSW |
9 |
71,069,685 (GRCm39) |
intron |
probably benign |
|
|
R5334:Aqp9
|
UTSW |
9 |
71,030,292 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5511:Aqp9
|
UTSW |
9 |
71,070,375 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5771:Aqp9
|
UTSW |
9 |
71,030,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Aqp9
|
UTSW |
9 |
71,039,966 (GRCm39) |
nonsense |
probably null |
|
|
R6831:Aqp9
|
UTSW |
9 |
71,069,702 (GRCm39) |
intron |
probably benign |
|
|
R6838:Aqp9
|
UTSW |
9 |
71,019,498 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7337:Aqp9
|
UTSW |
9 |
71,069,764 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7466:Aqp9
|
UTSW |
9 |
71,070,543 (GRCm39) |
splice site |
probably null |
|
|
R7946:Aqp9
|
UTSW |
9 |
71,030,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Aqp9
|
UTSW |
9 |
71,045,495 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8885:Aqp9
|
UTSW |
9 |
71,069,593 (GRCm39) |
intron |
probably benign |
|
|
R8968:Aqp9
|
UTSW |
9 |
71,045,485 (GRCm39) |
nonsense |
probably null |
|
|
R9497:Aqp9
|
UTSW |
9 |
71,069,651 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation