Incidental Mutation 'R7649:Slc4a9'
ID |
590722 |
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 |
045646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R7649 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36661430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 64
(Q64R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074298]
[ENSMUST00000115694]
|
AlphaFold |
A0A494BA31 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074298
AA Change: Q64R
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000073910 Gene: ENSMUSG00000024485 AA Change: Q64R
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: Q64R
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000111358 Gene: ENSMUSG00000024485 AA Change: Q64R
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (57/58) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
Ggt1 |
T |
C |
10: 75,421,290 (GRCm39) |
V468A |
possibly damaging |
Het |
Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
Il17rd |
C |
A |
14: 26,761,167 (GRCm39) |
A36E |
probably benign |
Het |
Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
Prr14l |
C |
T |
5: 32,985,589 (GRCm39) |
G1302D |
probably benign |
Het |
Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
Ssh1 |
A |
T |
5: 114,088,612 (GRCm39) |
M395K |
probably benign |
Het |
Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
Tnk1 |
T |
C |
11: 69,744,403 (GRCm39) |
|
probably null |
Het |
Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
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 |
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 |
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'- TGTGCAAGTCTTTCCAGGATG -3'
(R):5'- TGCCATTGACCCAGTGATACAG -3'
Sequencing Primer
(F):5'- CAAGTCTTTCCAGGATGAAGCTGC -3'
(R):5'- TTGACCCAGTGATACAGAGGACC -3'
|
Posted On |
2019-10-24 |