Incidental Mutation 'IGL01633:Slc4a8'
ID 93649
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 # IGL01633
Quality Score
Status
Chromosome 15
Chromosomal Location 100659628-100721849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100685128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 168 (H168N)
Ref Sequence ENSEMBL: ENSMUSP00000125090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023776] [ENSMUST00000162049]
AlphaFold Q8JZR6
Predicted Effect probably damaging
Transcript: ENSMUST00000023776
AA Change: H220N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: H220N

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 damaging
Transcript: ENSMUST00000162049
AA Change: H168N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125090
Gene: ENSMUSG00000023032
AA Change: H168N

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,334,406 (GRCm39) S1868T possibly damaging Het
Abca3 G A 17: 24,616,327 (GRCm39) W923* probably null Het
Abca8b A G 11: 109,827,580 (GRCm39) M1476T probably damaging Het
Abi3bp T C 16: 56,498,163 (GRCm39) F729S probably damaging Het
Acacb T C 5: 114,356,919 (GRCm39) probably benign Het
Aldh3a2 A G 11: 61,139,731 (GRCm39) L467P probably benign Het
Appl1 T C 14: 26,684,795 (GRCm39) T85A probably damaging Het
Aspm T A 1: 139,408,574 (GRCm39) I2487N possibly damaging Het
Bcl2a1c G A 9: 114,159,290 (GRCm39) V23I probably benign Het
C2cd2 T A 16: 97,676,323 (GRCm39) probably benign Het
Carmil3 A T 14: 55,731,684 (GRCm39) H170L possibly damaging Het
Ccdc141 C T 2: 76,919,593 (GRCm39) V305I probably benign Het
Ccdc174 G A 6: 91,857,343 (GRCm39) probably null Het
Cep126 T G 9: 8,103,320 (GRCm39) Q230P possibly damaging Het
Chrm1 T C 19: 8,655,859 (GRCm39) I188T probably benign Het
Depdc5 T C 5: 33,081,544 (GRCm39) S569P probably damaging Het
Drc1 G A 5: 30,503,007 (GRCm39) E177K probably damaging Het
Duox1 A G 2: 122,164,279 (GRCm39) E913G probably benign Het
Fbxw9 T C 8: 85,791,055 (GRCm39) S241P probably damaging Het
Fez2 C A 17: 78,712,147 (GRCm39) probably benign Het
Fga G T 3: 82,937,606 (GRCm39) R161L possibly damaging Het
Fn3krp G T 11: 121,320,533 (GRCm39) G293* probably null Het
Gfra1 C T 19: 58,255,479 (GRCm39) E318K probably benign Het
Gli3 C T 13: 15,823,219 (GRCm39) P314S probably damaging Het
Gm5114 A T 7: 39,057,490 (GRCm39) S710T probably benign Het
Gpr141 T C 13: 19,936,769 (GRCm39) D2G probably benign Het
Inppl1 G A 7: 101,483,041 (GRCm39) Q63* probably null Het
Lrrc73 T A 17: 46,566,657 (GRCm39) V169E possibly damaging Het
Lsm11 C T 11: 45,824,615 (GRCm39) R304Q probably benign Het
Macf1 T C 4: 123,395,964 (GRCm39) D788G probably damaging Het
Nbas T A 12: 13,533,898 (GRCm39) D1844E probably damaging Het
Nt5c A G 11: 115,382,161 (GRCm39) F73L probably damaging Het
Osmr A T 15: 6,854,085 (GRCm39) I541N probably damaging Het
Phrf1 A G 7: 140,840,413 (GRCm39) I1203V probably benign Het
Pram1 C A 17: 33,861,109 (GRCm39) P510Q possibly damaging Het
Prepl A G 17: 85,379,444 (GRCm39) Y415H probably benign Het
Prss27 A T 17: 24,264,650 (GRCm39) H271L probably damaging Het
Ptpn18 A G 1: 34,510,989 (GRCm39) S287G probably benign Het
Ptprq T C 10: 107,535,584 (GRCm39) probably benign Het
Sars2 A G 7: 28,446,974 (GRCm39) K218E probably benign Het
Senp6 G T 9: 79,999,676 (GRCm39) S31I probably damaging Het
Shld2 G T 14: 33,971,136 (GRCm39) T31K probably damaging Het
Skint6 C A 4: 113,095,246 (GRCm39) V138F probably damaging Het
Tbx15 T G 3: 99,220,358 (GRCm39) I150S probably damaging Het
Tbxas1 A G 6: 38,959,125 (GRCm39) N103D probably benign Het
Tmc5 A G 7: 118,222,809 (GRCm39) N170D probably damaging Het
Tmem108 A T 9: 103,361,950 (GRCm39) N545K probably benign Het
Trub1 A G 19: 57,441,616 (GRCm39) K80E possibly damaging Het
Tulp3 A T 6: 128,302,923 (GRCm39) Y299N probably damaging Het
Other mutations in Slc4a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Slc4a8 APN 15 100,705,319 (GRCm39) missense possibly damaging 0.50
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
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 2013-12-09