Incidental Mutation 'IGL02690:Slc4a9'
| ID |
303708 |
| 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 # |
IGL02690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36665040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 463
(Y463C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
| AlphaFold |
A0A494BA31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074298
AA Change: Y391C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: Y391C
| 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 damaging
Transcript: ENSMUST00000115694
AA Change: Y463C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: Y463C
| 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 |
|---|
| Adgre1 |
T |
C |
17: 57,787,921 (GRCm39) |
V896A |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,989,948 (GRCm39) |
S3744* |
probably null |
Het |
| Aldh7a1 |
A |
G |
18: 56,661,427 (GRCm39) |
|
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,333,200 (GRCm39) |
I95F |
probably damaging |
Het |
| Borcs8 |
C |
A |
8: 70,617,738 (GRCm39) |
A32D |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,198 (GRCm39) |
Y111C |
probably damaging |
Het |
| Cdh1 |
T |
A |
8: 107,384,516 (GRCm39) |
I328N |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,229,986 (GRCm39) |
D856N |
probably damaging |
Het |
| Clip2 |
T |
A |
5: 134,539,013 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
C |
A |
4: 98,857,872 (GRCm39) |
V1451F |
possibly damaging |
Het |
| Edem3 |
T |
G |
1: 151,680,550 (GRCm39) |
C558W |
probably damaging |
Het |
| Eif3f |
T |
C |
7: 108,533,925 (GRCm39) |
V96A |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,576 (GRCm39) |
S738P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,678,861 (GRCm39) |
S912R |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,484,998 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
T |
A |
4: 92,079,248 (GRCm39) |
D191V |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 90,981,383 (GRCm39) |
T2A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,815,710 (GRCm39) |
E1198G |
possibly damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,457 (GRCm39) |
L761P |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,532 (GRCm39) |
E1392V |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Or13c7b |
G |
A |
4: 43,821,190 (GRCm39) |
T57M |
possibly damaging |
Het |
| Or5k17 |
G |
A |
16: 58,746,214 (GRCm39) |
T240I |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,839 (GRCm39) |
I50L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,273 (GRCm39) |
N267D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsc1a1 |
A |
T |
4: 141,412,612 (GRCm39) |
V100D |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,132 (GRCm39) |
Y166H |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,233,047 (GRCm39) |
T109S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,135 (GRCm39) |
S327C |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Speer1j |
C |
T |
5: 11,555,228 (GRCm39) |
Q66* |
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,888,195 (GRCm39) |
M936V |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tbx20 |
T |
A |
9: 24,685,033 (GRCm39) |
N37Y |
probably benign |
Het |
| Tent4a |
T |
A |
13: 69,658,744 (GRCm39) |
M364L |
probably benign |
Het |
| Tex14 |
C |
T |
11: 87,377,100 (GRCm39) |
T148I |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,200,423 (GRCm39) |
E371G |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,096 (GRCm39) |
F116L |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,091 (GRCm39) |
L167P |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,917,288 (GRCm39) |
W3711R |
probably damaging |
Het |
| Wdr5 |
A |
T |
2: 27,424,840 (GRCm39) |
T326S |
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 |
|
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 |
|
|
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