Incidental Mutation 'R9155:Slc4a8'
ID 695337
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 068941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R9155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 100659628-100721849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100672571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 36 (Y36H)
Ref Sequence ENSEMBL: ENSMUSP00000023776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023776] [ENSMUST00000161564]
AlphaFold Q8JZR6
Predicted Effect probably damaging
Transcript: ENSMUST00000023776
AA Change: Y36H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023776
Gene: ENSMUSG00000023032
AA Change: Y36H

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 unknown
Transcript: ENSMUST00000161564
AA Change: Y36H
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,691,811 (GRCm39) E34G probably damaging Het
Aldh1a3 A T 7: 66,058,867 (GRCm39) L157* probably null Het
Asic2 T A 11: 80,784,872 (GRCm39) T356S probably benign Het
Ate1 T C 7: 129,996,463 (GRCm39) D459G probably damaging Het
Cacna1g T A 11: 94,350,423 (GRCm39) Q474L Het
Calhm6 T C 10: 34,002,363 (GRCm39) E240G probably damaging Het
Carf C A 1: 60,189,842 (GRCm39) T689K possibly damaging Het
Carmil2 A G 8: 106,412,922 (GRCm39) D6G probably benign Het
Ccnd2 A C 6: 127,127,663 (GRCm39) V25G probably damaging Het
Ccnk T A 12: 108,159,978 (GRCm39) F153L probably damaging Het
Cdh23 C T 10: 60,249,485 (GRCm39) G808E probably damaging Het
Clec11a C T 7: 43,954,317 (GRCm39) R212Q probably damaging Het
Cog4 T C 8: 111,608,384 (GRCm39) W749R probably damaging Het
Col6a3 T A 1: 90,738,301 (GRCm39) T1073S probably benign Het
Col6a4 T A 9: 105,952,209 (GRCm39) D563V probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crebbp A C 16: 3,914,346 (GRCm39) H1292Q probably damaging Het
Csmd3 C A 15: 47,449,051 (GRCm39) G2737W Het
Ddrgk1 T C 2: 130,500,227 (GRCm39) Y223C probably damaging Het
Dennd1c T C 17: 57,373,796 (GRCm39) Q589R probably benign Het
Dnah10 A G 5: 124,907,475 (GRCm39) D4336G probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
E330034G19Rik A T 14: 24,346,938 (GRCm39) Q140L possibly damaging Het
Ergic3 A G 2: 155,850,780 (GRCm39) Y83C probably damaging Het
Fam171a2 A T 11: 102,329,497 (GRCm39) S421T probably benign Het
Fndc3a T A 14: 72,921,162 (GRCm39) H4L possibly damaging Het
Gid8 T A 2: 180,359,756 (GRCm39) Y213* probably null Het
Hephl1 G T 9: 15,000,375 (GRCm39) H292Q probably damaging Het
Hexb T C 13: 97,314,414 (GRCm39) Y443C probably damaging Het
Htr1f C T 16: 64,746,788 (GRCm39) R168H probably benign Het
Hus1 A G 11: 8,956,056 (GRCm39) I159T probably damaging Het
Inha A G 1: 75,486,133 (GRCm39) T143A probably benign Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Itgae G T 11: 73,016,089 (GRCm39) C766F possibly damaging Het
Kank4 T C 4: 98,666,563 (GRCm39) E628G probably benign Het
Kctd19 T C 8: 106,120,571 (GRCm39) H221R probably benign Het
Llgl1 A G 11: 60,597,934 (GRCm39) E351G probably benign Het
Lrba A G 3: 86,202,508 (GRCm39) Y253C probably damaging Het
Lrp2 T A 2: 69,291,713 (GRCm39) R3489* probably null Het
Lrriq1 T C 10: 103,050,640 (GRCm39) N704S probably benign Het
Mbtps1 T C 8: 120,235,693 (GRCm39) N995S probably benign Het
Mga T C 2: 119,757,013 (GRCm39) C1077R probably damaging Het
Muc21 G A 17: 35,932,131 (GRCm39) P685L unknown Het
Ndufv1 A T 19: 4,059,912 (GRCm39) C142S probably damaging Het
Nkx3-1 T C 14: 69,429,660 (GRCm39) L226P probably damaging Het
Nsd1 C T 13: 55,361,253 (GRCm39) R74W probably damaging Het
Or12k8 A C 2: 36,975,016 (GRCm39) M248R probably benign Het
Or1d2 A G 11: 74,255,791 (GRCm39) T99A probably benign Het
Or2n1d A T 17: 38,646,224 (GRCm39) M59L probably damaging Het
Or5b99 G A 19: 12,976,428 (GRCm39) C26Y probably benign Het
Or7g35 A T 9: 19,496,379 (GRCm39) D182V probably benign Het
Phc3 A G 3: 30,968,691 (GRCm39) V812A probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Ppp4c A T 7: 126,386,419 (GRCm39) C193S possibly damaging Het
Rbbp5 C A 1: 132,422,023 (GRCm39) P308T probably damaging Het
Rhot1 A G 11: 80,148,380 (GRCm39) T607A probably null Het
Secisbp2l G A 2: 125,617,623 (GRCm39) P18L probably damaging Het
Slc27a4 G A 2: 29,701,294 (GRCm39) G362S probably damaging Het
Sox17 T C 1: 4,562,447 (GRCm39) Y251C probably damaging Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Taf4b T C 18: 14,946,296 (GRCm39) V373A probably benign Het
Tecpr2 T A 12: 110,881,184 (GRCm39) V107E probably damaging Het
Them7 A G 2: 105,209,124 (GRCm39) Y148C probably damaging Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Ttn C T 2: 76,625,937 (GRCm39) V15041I probably damaging Het
Ubr1 A G 2: 120,754,615 (GRCm39) V751A possibly damaging Het
Vmn1r213 A T 13: 23,196,343 (GRCm39) R309* probably null Het
Vmn2r10 A T 5: 109,144,212 (GRCm39) D579E probably benign Het
Vmn2r118 T C 17: 55,917,207 (GRCm39) Q435R probably null Het
Vmn2r50 A T 7: 9,781,571 (GRCm39) H391Q probably damaging Het
Zbtb44 A T 9: 30,965,309 (GRCm39) I240F 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
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
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'- ATTATGTGGTTCCAGCCGCTG -3'
(R):5'- TCTGATGAGCTGACTGGACG -3'

Sequencing Primer
(F):5'- GGTTCCAGCCGCTGTGTTTC -3'
(R):5'- ACGGGTGGGGTTCATCAC -3'
Posted On 2022-01-20