Incidental Mutation 'R5236:Slc4a9'
ID |
398453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc4a9
|
Ensembl Gene |
ENSMUSG00000024485 |
Gene Name |
solute carrier family 4, sodium bicarbonate cotransporter, member 9 |
Synonyms |
D630024F24Rik, AE4 |
MMRRC Submission |
044393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R5236 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36663900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 308
(Y308C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
AlphaFold |
A0A494BA31 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074298
AA Change: Y308C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073910 Gene: ENSMUSG00000024485 AA Change: Y308C
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: Y308C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111358 Gene: ENSMUSG00000024485 AA Change: Y308C
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
T |
A |
9: 101,820,120 (GRCm39) |
I180N |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,263,315 (GRCm39) |
C263S |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
Arid4b |
A |
G |
13: 14,301,034 (GRCm39) |
|
probably null |
Het |
Bin2 |
T |
C |
15: 100,560,415 (GRCm39) |
N49D |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,884,251 (GRCm39) |
T364A |
probably damaging |
Het |
Cdcp1 |
A |
T |
9: 123,014,258 (GRCm39) |
V172D |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,148,351 (GRCm39) |
L2670P |
probably damaging |
Het |
Cmtm4 |
G |
C |
8: 105,084,378 (GRCm39) |
F105L |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,502,754 (GRCm39) |
Y153C |
probably benign |
Het |
Ctsa |
G |
A |
2: 164,680,831 (GRCm39) |
V453M |
probably damaging |
Het |
Cyp3a59 |
A |
G |
5: 146,039,635 (GRCm39) |
I303V |
probably benign |
Het |
Cyp4f17 |
T |
C |
17: 32,739,606 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,203,498 (GRCm39) |
R447C |
probably damaging |
Het |
E2f7 |
C |
T |
10: 110,603,070 (GRCm39) |
P362S |
probably damaging |
Het |
Fbxw9 |
A |
G |
8: 85,792,974 (GRCm39) |
T407A |
probably damaging |
Het |
Fyb2 |
T |
C |
4: 104,805,957 (GRCm39) |
S346P |
probably benign |
Het |
Git2 |
T |
A |
5: 114,905,233 (GRCm39) |
I75L |
probably damaging |
Het |
H2-DMa |
T |
A |
17: 34,356,913 (GRCm39) |
L137Q |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hrg |
T |
C |
16: 22,780,263 (GRCm39) |
|
probably benign |
Het |
Htr7 |
A |
T |
19: 36,034,169 (GRCm39) |
I162N |
probably damaging |
Het |
Itpripl1 |
A |
T |
2: 126,983,770 (GRCm39) |
F117L |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,187,237 (GRCm39) |
Y392C |
probably damaging |
Het |
Krt27 |
A |
C |
11: 99,241,641 (GRCm39) |
S87A |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,111,487 (GRCm39) |
V2246A |
probably benign |
Het |
Lcn2 |
A |
T |
2: 32,275,973 (GRCm39) |
M119K |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,287,163 (GRCm39) |
|
probably null |
Het |
Lrp6 |
T |
C |
6: 134,488,227 (GRCm39) |
N290D |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,291,614 (GRCm39) |
E2517G |
probably damaging |
Het |
Melk |
G |
A |
4: 44,344,959 (GRCm39) |
C363Y |
probably benign |
Het |
Mettl22 |
T |
A |
16: 8,306,597 (GRCm39) |
L351* |
probably null |
Het |
Mms22l |
A |
G |
4: 24,588,347 (GRCm39) |
Q953R |
probably benign |
Het |
Ndufaf7 |
T |
C |
17: 79,247,060 (GRCm39) |
S107P |
probably benign |
Het |
Opa3 |
A |
G |
7: 18,978,682 (GRCm39) |
Y49C |
probably damaging |
Het |
Or2a12 |
A |
C |
6: 42,904,715 (GRCm39) |
R183S |
probably benign |
Het |
Or9a2 |
C |
A |
6: 41,749,045 (GRCm39) |
G63C |
probably benign |
Het |
Pabpn1 |
T |
A |
14: 55,132,399 (GRCm39) |
M145K |
possibly damaging |
Het |
Plce1 |
A |
C |
19: 38,758,791 (GRCm39) |
M1982L |
probably benign |
Het |
Ppcdc |
A |
C |
9: 57,321,937 (GRCm39) |
I201S |
probably benign |
Het |
Rag2 |
A |
T |
2: 101,460,005 (GRCm39) |
D105V |
probably damaging |
Het |
Rnf130 |
C |
T |
11: 49,986,805 (GRCm39) |
T383I |
probably damaging |
Het |
Sgip1 |
T |
G |
4: 102,784,784 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
A |
2: 131,917,504 (GRCm39) |
I245F |
probably damaging |
Het |
Slc7a15 |
C |
T |
12: 8,589,005 (GRCm39) |
V181M |
probably benign |
Het |
Sprr2b |
G |
A |
3: 92,224,943 (GRCm39) |
C63Y |
unknown |
Het |
Stpg2 |
A |
T |
3: 138,937,984 (GRCm39) |
Y181F |
probably damaging |
Het |
Sult2a5 |
A |
T |
7: 13,398,974 (GRCm39) |
T194S |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,362 (GRCm39) |
Q411L |
possibly damaging |
Het |
Tln2 |
T |
A |
9: 67,273,205 (GRCm39) |
E427V |
probably damaging |
Het |
Trpv4 |
A |
C |
5: 114,760,856 (GRCm39) |
V825G |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,754,596 (GRCm39) |
I1968V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,619,146 (GRCm39) |
L16078F |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,805,888 (GRCm39) |
F132I |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,060,654 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
T |
7: 85,272,877 (GRCm39) |
N564Y |
probably damaging |
Het |
Zfp638 |
G |
T |
6: 83,953,557 (GRCm39) |
E1221* |
probably null |
Het |
Zfp934 |
A |
T |
13: 62,665,527 (GRCm39) |
H371Q |
probably damaging |
Het |
Zranb3 |
A |
G |
1: 127,968,726 (GRCm39) |
L63P |
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 |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAACACACATGGAAGAGTCC -3'
(R):5'- GATTTGACTTAAGAGTACGCGACG -3'
Sequencing Primer
(F):5'- GGAAGAGTCCTTAATATGCACTTCCC -3'
(R):5'- ATGCCAAGCTTAACTGGG -3'
|
Posted On |
2016-07-06 |