Incidental Mutation 'IGL02904:Aqp9'
| ID |
363733 |
| 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: 0.152)
|
| Stock # |
IGL02904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
71017941-71075170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71045430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 60
(I60F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060917]
[ENSMUST00000074465]
[ENSMUST00000113570]
[ENSMUST00000144618]
|
| AlphaFold |
Q9JJJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060917
AA Change: I86F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: I86F
| 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: I60F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113570
AA Change: I60F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144618
AA Change: I60F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: I60F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
164 |
9.4e-31 |
PFAM |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,620,990 (GRCm39) |
S564P |
probably damaging |
Het |
| A1cf |
A |
C |
19: 31,912,206 (GRCm39) |
K432N |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,307,428 (GRCm39) |
D476E |
probably benign |
Het |
| B2m |
A |
C |
2: 121,981,642 (GRCm39) |
|
probably benign |
Het |
| B3galt1 |
T |
A |
2: 67,949,089 (GRCm39) |
V268E |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,306,149 (GRCm39) |
L1299P |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Ces2e |
C |
T |
8: 105,657,970 (GRCm39) |
P356L |
probably benign |
Het |
| Crmp1 |
A |
T |
5: 37,446,262 (GRCm39) |
K639N |
possibly damaging |
Het |
| Ddx17 |
G |
A |
15: 79,414,638 (GRCm39) |
R510* |
probably null |
Het |
| Dner |
C |
T |
1: 84,512,665 (GRCm39) |
V301M |
probably damaging |
Het |
| Efr3b |
T |
G |
12: 4,034,583 (GRCm39) |
I196L |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,561 (GRCm39) |
I27T |
probably benign |
Het |
| Glis3 |
A |
G |
19: 28,335,352 (GRCm39) |
F571L |
possibly damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,803 (GRCm39) |
I51V |
probably benign |
Het |
| Gm5592 |
T |
C |
7: 40,937,810 (GRCm39) |
L364P |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,111,396 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
G |
4: 129,544,480 (GRCm39) |
I411T |
probably benign |
Het |
| Lcn11 |
A |
G |
2: 25,669,278 (GRCm39) |
D145G |
probably null |
Het |
| Lrrc37 |
A |
C |
11: 103,507,187 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,337,784 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,536,851 (GRCm39) |
K42E |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,576,069 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,171,765 (GRCm39) |
D55G |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,804,632 (GRCm39) |
C445* |
probably null |
Het |
| Naca |
C |
T |
10: 127,879,159 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,666 (GRCm39) |
Y625C |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,074,715 (GRCm39) |
C827S |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,347 (GRCm39) |
N100I |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,457,623 (GRCm39) |
T183S |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,552,099 (GRCm39) |
S117P |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,393 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,729 (GRCm39) |
L31Q |
probably null |
Het |
| Picalm |
G |
A |
7: 89,825,619 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,450 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,386,574 (GRCm39) |
V831A |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 12,991,321 (GRCm39) |
I456T |
probably damaging |
Het |
| Snx3 |
A |
G |
10: 42,410,690 (GRCm39) |
H110R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,679,432 (GRCm39) |
D635G |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,124,108 (GRCm39) |
I212L |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,099,845 (GRCm39) |
Y192* |
probably null |
Het |
| Tmtc1 |
A |
G |
6: 148,150,980 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
C |
T |
5: 138,258,864 (GRCm39) |
V232I |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,097 (GRCm39) |
E499D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,562,375 (GRCm39) |
N28823K |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,388,349 (GRCm39) |
G2146* |
probably null |
Het |
| Ush2a |
G |
T |
1: 188,638,703 (GRCm39) |
V4038L |
probably benign |
Het |
| Zc3h7a |
T |
G |
16: 10,968,530 (GRCm39) |
D483A |
probably damaging |
Het |
| Zfyve19 |
T |
C |
2: 119,040,953 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02389:Aqp9
|
APN |
9 |
71,030,188 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02551:Aqp9
|
APN |
9 |
71,039,922 (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 |
2015-12-18 |
Incidental Mutation