Incidental Mutation 'R0508:Slc4a8'
| ID |
47751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a8
|
| Ensembl Gene |
ENSMUSG00000023032 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 8 |
| Synonyms |
KNBC-3, sodium bicarbonate cotransporter isoform 3 kNBC-3, NDCBE |
| MMRRC Submission |
038703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R0508 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100659628-100721849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100686973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 259
(R259Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023776]
[ENSMUST00000162049]
|
| AlphaFold |
Q8JZR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023776
AA Change: R311Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: R311Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
145 |
402 |
1.4e-105 |
PFAM |
|
Pfam:HCO3_cotransp
|
443 |
956 |
9.6e-247 |
PFAM |
|
transmembrane domain
|
964 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1027 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162049
AA Change: R259Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: R259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
93 |
350 |
6.5e-103 |
PFAM |
|
Pfam:HCO3_cotransp
|
390 |
904 |
1.6e-251 |
PFAM |
|
transmembrane domain
|
912 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
975 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
99% (67/68) |
| 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 that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal sodium and chloride ion excretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,211,162 (GRCm39) |
L632P |
probably damaging |
Het |
| 4833439L19Rik |
A |
G |
13: 54,700,863 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
C |
3: 121,917,200 (GRCm39) |
|
probably benign |
Het |
| Adamts10 |
G |
T |
17: 33,762,692 (GRCm39) |
G557V |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,326,360 (GRCm39) |
H424R |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,816,839 (GRCm39) |
Q623R |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,564,364 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,702,222 (GRCm39) |
S1092P |
unknown |
Het |
| Arhgap32 |
A |
T |
9: 32,101,364 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,388,670 (GRCm39) |
S535C |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,446 (GRCm39) |
|
probably null |
Het |
| Bicral |
A |
T |
17: 47,136,327 (GRCm39) |
H294Q |
possibly damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,685 (GRCm39) |
K340E |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,812 (GRCm39) |
H58L |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,576,147 (GRCm39) |
E100G |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,969 (GRCm39) |
S16P |
probably benign |
Het |
| Clec2i |
T |
A |
6: 128,870,663 (GRCm39) |
V67D |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Coq6 |
G |
T |
12: 84,414,913 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,588 (GRCm39) |
Q72R |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,374 (GRCm39) |
S570P |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,970,535 (GRCm39) |
N1027S |
probably damaging |
Het |
| Exog |
T |
A |
9: 119,277,444 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
A |
C |
17: 25,068,975 (GRCm39) |
V34G |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,748,045 (GRCm39) |
R74W |
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,367,174 (GRCm39) |
L239Q |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,284,938 (GRCm39) |
G1253D |
unknown |
Het |
| Galnt12 |
A |
G |
4: 47,104,255 (GRCm39) |
D171G |
probably damaging |
Het |
| Gm973 |
G |
T |
1: 59,621,649 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
C |
A |
1: 93,342,533 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
A |
1: 40,490,877 (GRCm39) |
I386N |
possibly damaging |
Het |
| Itgav |
T |
C |
2: 83,623,002 (GRCm39) |
|
probably benign |
Het |
| Magoh |
A |
C |
4: 107,742,195 (GRCm39) |
K114Q |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,005 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,302,075 (GRCm39) |
D986E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Nckap5 |
T |
C |
1: 125,909,121 (GRCm39) |
|
probably null |
Het |
| Neu1 |
A |
G |
17: 35,151,760 (GRCm39) |
I185V |
probably benign |
Het |
| Nkiras1 |
T |
A |
14: 18,278,524 (GRCm38) |
D79E |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,428,350 (GRCm39) |
E66G |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,193 (GRCm39) |
I262N |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,016,465 (GRCm39) |
N73K |
probably benign |
Het |
| Otulin |
C |
T |
15: 27,608,944 (GRCm39) |
V2I |
possibly damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,443,368 (GRCm39) |
M421T |
probably damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,443 (GRCm39) |
|
probably benign |
Het |
| Rrad |
A |
T |
8: 105,356,500 (GRCm39) |
D133E |
possibly damaging |
Het |
| Scaf11 |
A |
G |
15: 96,318,368 (GRCm39) |
S399P |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,508,080 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,548,186 (GRCm39) |
E1126G |
probably damaging |
Het |
| Selenop |
T |
G |
15: 3,305,202 (GRCm39) |
D119E |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,204,651 (GRCm39) |
S32C |
probably damaging |
Het |
| Serpine1 |
C |
A |
5: 137,093,770 (GRCm39) |
K315N |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,032,872 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,293,962 (GRCm39) |
R198Q |
probably damaging |
Het |
| Spta1 |
A |
C |
1: 174,052,023 (GRCm39) |
Y1819S |
probably damaging |
Het |
| Stard3 |
T |
A |
11: 98,263,140 (GRCm39) |
I65N |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,997 (GRCm39) |
L712P |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,816,343 (GRCm39) |
R62C |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,811 (GRCm39) |
F410L |
probably null |
Het |
| Txndc2 |
T |
A |
17: 65,944,948 (GRCm39) |
I410F |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,580,150 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,392 (GRCm39) |
F115L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,770,910 (GRCm39) |
V46A |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,933,789 (GRCm39) |
S1615R |
probably benign |
Het |
| Zfand4 |
T |
A |
6: 116,262,828 (GRCm39) |
C118S |
probably damaging |
Het |
| Zfp952 |
G |
A |
17: 33,221,979 (GRCm39) |
E115K |
possibly damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,061,872 (GRCm39) |
F368L |
probably damaging |
Het |
|
| Other mutations in Slc4a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Slc4a8
|
APN |
15 |
100,705,319 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01633:Slc4a8
|
APN |
15 |
100,685,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02945:Slc4a8
|
APN |
15 |
100,705,080 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03172:Slc4a8
|
APN |
15 |
100,697,598 (GRCm39) |
missense |
probably benign |
|
|
R0008:Slc4a8
|
UTSW |
15 |
100,698,374 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0040:Slc4a8
|
UTSW |
15 |
100,687,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0040:Slc4a8
|
UTSW |
15 |
100,687,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0257:Slc4a8
|
UTSW |
15 |
100,682,761 (GRCm39) |
splice site |
probably benign |
|
|
R0393:Slc4a8
|
UTSW |
15 |
100,672,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Slc4a8
|
UTSW |
15 |
100,694,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Slc4a8
|
UTSW |
15 |
100,681,668 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1692:Slc4a8
|
UTSW |
15 |
100,698,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Slc4a8
|
UTSW |
15 |
100,685,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1955:Slc4a8
|
UTSW |
15 |
100,705,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Slc4a8
|
UTSW |
15 |
100,704,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Slc4a8
|
UTSW |
15 |
100,705,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Slc4a8
|
UTSW |
15 |
100,707,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Slc4a8
|
UTSW |
15 |
100,705,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2275:Slc4a8
|
UTSW |
15 |
100,705,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Slc4a8
|
UTSW |
15 |
100,694,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4482:Slc4a8
|
UTSW |
15 |
100,708,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Slc4a8
|
UTSW |
15 |
100,693,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5586:Slc4a8
|
UTSW |
15 |
100,685,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Slc4a8
|
UTSW |
15 |
100,693,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Slc4a8
|
UTSW |
15 |
100,689,506 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5815:Slc4a8
|
UTSW |
15 |
100,686,092 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5921:Slc4a8
|
UTSW |
15 |
100,712,328 (GRCm39) |
splice site |
probably benign |
|
|
R6029:Slc4a8
|
UTSW |
15 |
100,705,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6212:Slc4a8
|
UTSW |
15 |
100,709,452 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6321:Slc4a8
|
UTSW |
15 |
100,687,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6574:Slc4a8
|
UTSW |
15 |
100,705,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Slc4a8
|
UTSW |
15 |
100,698,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Slc4a8
|
UTSW |
15 |
100,689,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7082:Slc4a8
|
UTSW |
15 |
100,688,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Slc4a8
|
UTSW |
15 |
100,688,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Slc4a8
|
UTSW |
15 |
100,688,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Slc4a8
|
UTSW |
15 |
100,682,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7627:Slc4a8
|
UTSW |
15 |
100,686,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7810:Slc4a8
|
UTSW |
15 |
100,696,059 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7934:Slc4a8
|
UTSW |
15 |
100,685,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Slc4a8
|
UTSW |
15 |
100,685,170 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8308:Slc4a8
|
UTSW |
15 |
100,693,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8504:Slc4a8
|
UTSW |
15 |
100,701,171 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8791:Slc4a8
|
UTSW |
15 |
100,705,134 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8919:Slc4a8
|
UTSW |
15 |
100,712,421 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9155:Slc4a8
|
UTSW |
15 |
100,672,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Slc4a8
|
UTSW |
15 |
100,689,482 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9253:Slc4a8
|
UTSW |
15 |
100,680,913 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9422:Slc4a8
|
UTSW |
15 |
100,698,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9457:Slc4a8
|
UTSW |
15 |
100,704,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Slc4a8
|
UTSW |
15 |
100,681,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Slc4a8
|
UTSW |
15 |
100,659,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACGACTCGTGAAGTGGAGC -3'
(R):5'- TGGAAAGACACCAGTACCTCTGCC -3'
Sequencing Primer
(F):5'- TCGTGAAGTGGAGCTGTGAAG -3'
(R):5'- TCTCTGACTAGGAGAGAGCC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation