Incidental Mutation 'IGL03172:Slc4a8'
ID 411868
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL03172
Quality Score
Status
Chromosome 15
Chromosomal Location 100659628-100721849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100697598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 605 (A605T)
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: A657T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: A657T

DomainStartEndE-ValueType
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: A605T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: A605T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162805
Coding Region Coverage
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Asf1b A C 8: 84,694,542 (GRCm39) H102P probably benign Het
Celf6 C T 9: 59,489,565 (GRCm39) A90V probably damaging Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 (GRCm39) F128L probably damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Ndufa2 A G 18: 36,877,278 (GRCm39) probably null Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Samd3 T A 10: 26,106,064 (GRCm39) V14E probably damaging Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R probably benign Het
Other mutations in Slc4a8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R0508:Slc4a8 UTSW 15 100,686,973 (GRCm39) missense probably benign 0.01
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
Posted On 2016-08-02