Incidental Mutation 'IGL03003:Slc4a9'
| ID |
407455 |
| 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 # |
IGL03003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36669946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 722
(S722P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
| AlphaFold |
A0A494BA31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074298
AA Change: S722P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: S722P
| 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: S794P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: S794P
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
| Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,390,846 (GRCm39) |
S273P |
possibly damaging |
Het |
| Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
| Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,469,876 (GRCm39) |
M634K |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,244,094 (GRCm39) |
L142S |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
| Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
| Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
| Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,782,726 (GRCm39) |
V228L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
| Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
| Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
| Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,473,781 (GRCm39) |
W768L |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
| Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
possibly 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 |
|
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation