Incidental Mutation 'IGL02293:Slc4a9'
| ID |
290114 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc4a9
|
| Ensembl Gene |
ENSMUSG00000024485 |
| Gene Name |
solute carrier family 4, sodium bicarbonate cotransporter, member 9 |
| Synonyms |
D630024F24Rik, AE4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36666268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 483
(L483P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
| AlphaFold |
A0A494BA31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074298
AA Change: L483P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: L483P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
80 |
174 |
4.6e-19 |
PFAM |
|
Pfam:Band_3_cyto
|
161 |
300 |
7.1e-45 |
PFAM |
|
Pfam:HCO3_cotransp
|
367 |
788 |
2.7e-168 |
PFAM |
|
transmembrane domain
|
794 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115694
AA Change: L555P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: L555P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
80 |
170 |
1.9e-15 |
PFAM |
|
Pfam:Band_3_cyto
|
159 |
300 |
1e-38 |
PFAM |
|
Pfam:HCO3_cotransp
|
349 |
805 |
3.1e-174 |
PFAM |
|
Pfam:HCO3_cotransp
|
801 |
837 |
1.1e-11 |
PFAM |
|
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
902 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered ion exchange in intestinal epithelia and kidney. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klhl32 |
A |
G |
4: 24,626,935 (GRCm39) |
Y555H |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,172,276 (GRCm39) |
S357P |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,505,425 (GRCm39) |
V380D |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
G |
T |
14: 55,959,153 (GRCm39) |
L5M |
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,186 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc4a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Slc4a9
|
APN |
18 |
36,672,649 (GRCm39) |
splice site |
probably benign |
|
|
IGL01890:Slc4a9
|
APN |
18 |
36,662,760 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01995:Slc4a9
|
APN |
18 |
36,672,828 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02476:Slc4a9
|
APN |
18 |
36,668,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02690:Slc4a9
|
APN |
18 |
36,665,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Slc4a9
|
APN |
18 |
36,672,670 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03003:Slc4a9
|
APN |
18 |
36,669,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03344:Slc4a9
|
APN |
18 |
36,668,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Slc4a9
|
APN |
18 |
36,662,740 (GRCm39) |
missense |
probably benign |
|
|
R0025:Slc4a9
|
UTSW |
18 |
36,664,719 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Slc4a9
|
UTSW |
18 |
36,674,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Slc4a9
|
UTSW |
18 |
36,674,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Slc4a9
|
UTSW |
18 |
36,666,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Slc4a9
|
UTSW |
18 |
36,666,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Slc4a9
|
UTSW |
18 |
36,668,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Slc4a9
|
UTSW |
18 |
36,668,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Slc4a9
|
UTSW |
18 |
36,668,331 (GRCm39) |
splice site |
probably benign |
|
|
R0989:Slc4a9
|
UTSW |
18 |
36,669,920 (GRCm39) |
nonsense |
probably null |
|
|
R1016:Slc4a9
|
UTSW |
18 |
36,664,478 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1469:Slc4a9
|
UTSW |
18 |
36,664,154 (GRCm39) |
missense |
probably benign |
|
|
R1469:Slc4a9
|
UTSW |
18 |
36,664,154 (GRCm39) |
missense |
probably benign |
|
|
R1598:Slc4a9
|
UTSW |
18 |
36,661,424 (GRCm39) |
nonsense |
probably null |
|
|
R1710:Slc4a9
|
UTSW |
18 |
36,665,075 (GRCm39) |
missense |
probably benign |
|
|
R2041:Slc4a9
|
UTSW |
18 |
36,663,846 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2216:Slc4a9
|
UTSW |
18 |
36,663,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3899:Slc4a9
|
UTSW |
18 |
36,668,616 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5236:Slc4a9
|
UTSW |
18 |
36,663,900 (GRCm39) |
missense |
probably benign |
|
|
R5902:Slc4a9
|
UTSW |
18 |
36,664,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Slc4a9
|
UTSW |
18 |
36,662,386 (GRCm39) |
splice site |
probably null |
|
|
R5978:Slc4a9
|
UTSW |
18 |
36,668,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Slc4a9
|
UTSW |
18 |
36,668,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6452:Slc4a9
|
UTSW |
18 |
36,664,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Slc4a9
|
UTSW |
18 |
36,662,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Slc4a9
|
UTSW |
18 |
36,673,874 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7409:Slc4a9
|
UTSW |
18 |
36,663,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7649:Slc4a9
|
UTSW |
18 |
36,661,430 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7694:Slc4a9
|
UTSW |
18 |
36,669,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7856:Slc4a9
|
UTSW |
18 |
36,661,751 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8523:Slc4a9
|
UTSW |
18 |
36,665,196 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9003:Slc4a9
|
UTSW |
18 |
36,673,787 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9165:Slc4a9
|
UTSW |
18 |
36,666,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9475:Slc4a9
|
UTSW |
18 |
36,662,269 (GRCm39) |
missense |
probably null |
1.00 |
|
R9509:Slc4a9
|
UTSW |
18 |
36,668,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9573:Slc4a9
|
UTSW |
18 |
36,668,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc4a9
|
UTSW |
18 |
36,664,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation