Incidental Mutation 'R6452:Slc4a9'
| ID |
519447 |
| 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 |
044588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R6452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36661200-36689326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36664512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 390
(Y390C)
|
| 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: T363A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: T363A
| 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: Y390C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: Y390C
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
G |
13: 119,624,651 (GRCm39) |
|
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,210,831 (GRCm39) |
V296E |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,724,705 (GRCm39) |
E400K |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,527 (GRCm39) |
D1273G |
probably damaging |
Het |
| Cetn3 |
C |
T |
13: 81,932,797 (GRCm39) |
R19* |
probably null |
Het |
| Chd6 |
G |
T |
2: 160,807,418 (GRCm39) |
P1932H |
possibly damaging |
Het |
| Cimip1 |
C |
A |
2: 173,369,700 (GRCm39) |
F71L |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,290 (GRCm39) |
I483N |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,801,468 (GRCm39) |
V71A |
possibly damaging |
Het |
| Dhx35 |
A |
G |
2: 158,673,607 (GRCm39) |
E346G |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,706,237 (GRCm39) |
Q1036K |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,992,105 (GRCm39) |
F92I |
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,327,163 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,338,198 (GRCm39) |
F491S |
probably damaging |
Het |
| Fzd2 |
T |
G |
11: 102,495,811 (GRCm39) |
V85G |
probably damaging |
Het |
| Gjd4 |
G |
A |
18: 9,280,457 (GRCm39) |
T207M |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,057,490 (GRCm39) |
E1096G |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,290 (GRCm39) |
L142* |
probably null |
Het |
| Kctd21 |
T |
A |
7: 96,996,869 (GRCm39) |
I114N |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,042,329 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,197,503 (GRCm39) |
V240A |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,882 (GRCm39) |
S409P |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,132 (GRCm39) |
E1012G |
unknown |
Het |
| Mmp24 |
A |
T |
2: 155,657,673 (GRCm39) |
D521V |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,828,998 (GRCm39) |
I768V |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,643,609 (GRCm39) |
E553V |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,196,565 (GRCm39) |
I1762F |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,275 (GRCm39) |
Y718F |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Neb |
A |
T |
2: 52,069,495 (GRCm39) |
D5775E |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,434,919 (GRCm39) |
N133S |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 107,886,100 (GRCm39) |
S78P |
probably damaging |
Het |
| Pramel19 |
T |
C |
4: 101,798,640 (GRCm39) |
Y204H |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,536,780 (GRCm39) |
I134T |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,714 (GRCm39) |
T1370I |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,281,331 (GRCm39) |
L630P |
probably damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,313,979 (GRCm39) |
L1566F |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,079 (GRCm39) |
W727R |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,629,175 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
G |
15: 84,088,298 (GRCm39) |
|
probably benign |
Het |
| Sema4f |
G |
A |
6: 82,894,643 (GRCm39) |
A476V |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,839 (GRCm39) |
N1031S |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,348,937 (GRCm39) |
Q3K |
probably benign |
Het |
| Smim1 |
T |
C |
4: 154,108,071 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,079,017 (GRCm39) |
T606S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,062,844 (GRCm39) |
D758G |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,783,287 (GRCm39) |
R550* |
probably null |
Het |
| Tlcd3a |
G |
T |
11: 76,097,972 (GRCm39) |
G60* |
probably null |
Het |
| Tnrc18 |
A |
C |
5: 142,712,767 (GRCm39) |
L2594R |
probably damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,496 (GRCm39) |
T468A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,840 (GRCm39) |
I149F |
probably damaging |
Het |
| Vmn2r96 |
A |
C |
17: 18,804,117 (GRCm39) |
T264P |
probably benign |
Het |
| Zfp217 |
C |
G |
2: 169,961,214 (GRCm39) |
S371T |
probably benign |
Het |
| Zfp442 |
G |
A |
2: 150,250,028 (GRCm39) |
H568Y |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,729,875 (GRCm39) |
H636P |
probably damaging |
Het |
| Zscan4d |
C |
T |
7: 10,895,999 (GRCm39) |
C457Y |
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 |
|
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'- ACATCAAAATGTGCAGGCAG -3'
(R):5'- AGTGGACAGATCTCTTCATCGG -3'
Sequencing Primer
(F):5'- GCAGTGCGGGAGGATGC -3'
(R):5'- GGACAGATCTCTTCATCGGATCCAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation