Incidental Mutation 'IGL01995:Slc4a9'
| ID |
183670 |
| 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: 0.185)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36672828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 811
(M811V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
| AlphaFold |
A0A494BA31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074298
AA Change: M811V
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: M811V
| 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 |
possibly damaging
Transcript: ENSMUST00000115694
AA Change: M860V
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: M860V
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
| Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
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 |
|
IGL02293:Slc4a9
|
APN |
18 |
36,666,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation