Incidental Mutation 'IGL01667:Aqp9'
| ID |
103339 |
| 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 # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
71017941-71075170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71045495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060917]
[ENSMUST00000074465]
[ENSMUST00000113570]
[ENSMUST00000144618]
|
| AlphaFold |
Q9JJJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060917
AA Change: V64A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
AA Change: V64A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:MIP
|
58 |
288 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074465
AA Change: V38A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
AA Change: V38A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113570
AA Change: V38A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
AA Change: V38A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144618
AA Change: V38A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
AA Change: V38A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gjc2 |
A |
C |
11: 59,068,344 (GRCm39) |
I46S |
probably damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation