Incidental Mutation 'R5804:Slc4a8'
ID 448423
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 043211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R5804 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100659628-100721849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100689506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 372 (N372S)
Ref Sequence ENSEMBL: ENSMUSP00000125090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023776] [ENSMUST00000162049]
AlphaFold Q8JZR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023776
AA Change: N424S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: N424S

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 possibly damaging
Transcript: ENSMUST00000162049
AA Change: N372S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: N372S

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,396,100 (GRCm39) R19* probably null Het
Abcb9 A G 5: 124,218,118 (GRCm39) M406T probably benign Het
Ager A G 17: 34,817,157 (GRCm39) E32G probably damaging Het
Cdk10 T A 8: 123,955,579 (GRCm39) probably null Het
Cfap97d1 A G 11: 101,881,640 (GRCm39) N112S probably damaging Het
Ctsl A T 13: 64,514,302 (GRCm39) Y259N probably damaging Het
Ctu2 T C 8: 123,207,965 (GRCm39) probably null Het
Dse T A 10: 34,029,375 (GRCm39) I572F possibly damaging Het
Flt1 A T 5: 147,517,247 (GRCm39) probably null Het
Gatm T A 2: 122,433,083 (GRCm39) Y193F probably benign Het
Gpaa1 T C 15: 76,216,826 (GRCm39) F170S probably damaging Het
Grm3 A G 5: 9,620,155 (GRCm39) L363P probably benign Het
Heatr5b G A 17: 79,138,951 (GRCm39) P64S probably damaging Het
Hfm1 A G 5: 107,026,455 (GRCm39) probably null Het
Hivep2 A C 10: 14,009,519 (GRCm39) K1725N probably benign Het
Hmcn1 A T 1: 150,550,098 (GRCm39) C2695* probably null Het
Hmgcr G A 13: 96,802,695 (GRCm39) T68M probably damaging Het
Igsf21 A T 4: 139,755,385 (GRCm39) D423E possibly damaging Het
Jag1 T C 2: 136,930,124 (GRCm39) N751S probably benign Het
Klrc2 A T 6: 129,637,436 (GRCm39) N28K possibly damaging Het
Lrrc8c A T 5: 105,727,423 (GRCm39) D29V possibly damaging Het
Mtcl1 A C 17: 66,650,132 (GRCm39) S1329A probably benign Het
Nin C T 12: 70,092,375 (GRCm39) V645I possibly damaging Het
Or4c127 T C 2: 89,833,332 (GRCm39) I194T possibly damaging Het
Or51i1 T C 7: 103,671,439 (GRCm39) I29V probably benign Het
Or8s2 T A 15: 98,276,215 (GRCm39) M259L probably benign Het
Or9g4 T A 2: 85,504,682 (GRCm39) D271V probably damaging Het
Pfpl A T 19: 12,407,027 (GRCm39) H426L probably benign Het
Poteg A G 8: 27,946,826 (GRCm39) D238G probably damaging Het
Psen1 T C 12: 83,778,474 (GRCm39) F386L probably damaging Het
Rassf9 A T 10: 102,380,905 (GRCm39) I96F probably damaging Het
Robo1 T C 16: 72,840,077 (GRCm39) probably null Het
Slc16a4 A T 3: 107,206,280 (GRCm39) M117L probably benign Het
Stmn4 G A 14: 66,593,748 (GRCm39) G47D probably benign Het
Tex26 A G 5: 149,386,612 (GRCm39) N137S possibly damaging Het
Ttn T A 2: 76,747,163 (GRCm39) I4629F probably benign Het
Ubash3a G A 17: 31,427,206 (GRCm39) probably null Het
Ube3d T C 9: 86,307,401 (GRCm39) I233V probably benign Het
Utrn T A 10: 12,297,369 (GRCm39) T680S probably damaging Het
Vps13d G A 4: 144,826,640 (GRCm39) T2846I probably benign Het
Zbtb22 TGGACCCGGGAC TGGACCCGGGACCCGGGAC 17: 34,137,593 (GRCm39) probably null Het
Zfp41 C T 15: 75,490,557 (GRCm39) P170S probably damaging 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
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
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
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'- GAAGCACACTGGAAACTGC -3'
(R):5'- CGTGTGAACGTCAACCATGG -3'

Sequencing Primer
(F):5'- CACTGGAAACTGCAATTTAGGTCAG -3'
(R):5'- GGTCAATAAACTTCTACCCAGGATG -3'
Posted On 2016-12-15