Incidental Mutation 'R2216:Slc4a9'
ID |
241189 |
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 |
040218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R2216 (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 36663798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 274
(H274R)
|
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: H274R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073910 Gene: ENSMUSG00000024485 AA Change: H274R
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: H274R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000111358 Gene: ENSMUSG00000024485 AA Change: H274R
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: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
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 |
Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGAAGTTTCCAGTTCACTG -3'
(R):5'- CCATAATCAAGGTGAAGATCGGC -3'
Sequencing Primer
(F):5'- TTCACTGCTGGCCCAAGGTAG -3'
(R):5'- TCGGCATGGAATTAAGCCC -3'
|
Posted On |
2014-10-15 |