Incidental Mutation 'IGL01890:Slc4a9'
ID 179233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a9
Ensembl Gene ENSMUSG00000024485
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 9
Synonyms D630024F24Rik, AE4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL01890
Quality Score
Status
Chromosome 18
Chromosomal Location 36661200-36689326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36662760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 172 (A172T)
Ref Sequence ENSEMBL: ENSMUSP00000073910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074298] [ENSMUST00000115694]
AlphaFold A0A494BA31
Predicted Effect possibly damaging
Transcript: ENSMUST00000074298
AA Change: A172T

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: A172T

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
Pfam:Band_3_cyto 80 174 4.6e-19 PFAM
Pfam:Band_3_cyto 161 300 7.1e-45 PFAM
Pfam:HCO3_cotransp 367 788 2.7e-168 PFAM
transmembrane domain 794 816 N/A INTRINSIC
low complexity region 830 853 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115694
AA Change: A172T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: A172T

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
Pfam:Band_3_cyto 80 170 1.9e-15 PFAM
Pfam:Band_3_cyto 159 300 1e-38 PFAM
Pfam:HCO3_cotransp 349 805 3.1e-174 PFAM
Pfam:HCO3_cotransp 801 837 1.1e-11 PFAM
transmembrane domain 845 867 N/A INTRINSIC
low complexity region 879 902 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 involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered ion exchange in intestinal epithelia and kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,231,642 (GRCm39) V265E probably damaging Het
Anks1b A G 10: 90,480,389 (GRCm39) I865V probably benign Het
Car5a G A 8: 122,650,349 (GRCm39) A182V probably benign Het
Ccdc47 A G 11: 106,096,277 (GRCm39) V249A probably damaging Het
Cyb561d2 A G 9: 107,418,722 (GRCm39) V34A probably damaging Het
Dmbt1 A G 7: 130,676,149 (GRCm39) probably benign Het
Entpd6 G A 2: 150,612,612 (GRCm39) D445N possibly damaging Het
Fastkd2 A G 1: 63,771,320 (GRCm39) I225M probably benign Het
Flcn A G 11: 59,685,996 (GRCm39) V424A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpn3 A G 5: 122,519,328 (GRCm39) M176V probably benign Het
Igkv12-38 C T 6: 69,920,389 (GRCm39) C43Y probably damaging Het
Oas1h A G 5: 121,000,852 (GRCm39) probably null Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Skint1 G A 4: 111,867,878 (GRCm39) G2R probably damaging Het
Synpo2 A G 3: 122,906,146 (GRCm39) S727P probably damaging Het
Tmem131 A T 1: 36,862,237 (GRCm39) probably benign Het
Trpm3 G T 19: 22,689,083 (GRCm39) R4L probably damaging Het
Upf1 A T 8: 70,786,880 (GRCm39) V879E possibly damaging Het
Vmn1r194 A T 13: 22,428,776 (GRCm39) Y131F probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r95 T A 17: 18,671,737 (GRCm39) N491K probably damaging Het
Other mutations in Slc4a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Slc4a9 APN 18 36,672,649 (GRCm39) splice site probably benign
IGL01995:Slc4a9 APN 18 36,672,828 (GRCm39) missense possibly damaging 0.64
IGL02293:Slc4a9 APN 18 36,666,268 (GRCm39) missense probably benign 0.00
IGL02476:Slc4a9 APN 18 36,668,498 (GRCm39) critical splice donor site probably null
IGL02690:Slc4a9 APN 18 36,665,040 (GRCm39) missense probably damaging 1.00
IGL02726:Slc4a9 APN 18 36,672,670 (GRCm39) missense probably benign 0.24
IGL03003:Slc4a9 APN 18 36,669,946 (GRCm39) missense probably damaging 1.00
IGL03344:Slc4a9 APN 18 36,668,654 (GRCm39) missense probably damaging 1.00
IGL03410:Slc4a9 APN 18 36,662,740 (GRCm39) missense probably benign
R0025:Slc4a9 UTSW 18 36,664,719 (GRCm39) splice site probably benign
R0242:Slc4a9 UTSW 18 36,674,286 (GRCm39) missense probably damaging 1.00
R0242:Slc4a9 UTSW 18 36,674,286 (GRCm39) missense probably damaging 1.00
R0242:Slc4a9 UTSW 18 36,666,733 (GRCm39) missense probably damaging 1.00
R0242:Slc4a9 UTSW 18 36,666,733 (GRCm39) missense probably damaging 1.00
R0330:Slc4a9 UTSW 18 36,668,592 (GRCm39) missense probably damaging 1.00
R0457:Slc4a9 UTSW 18 36,668,471 (GRCm39) missense probably damaging 1.00
R0831:Slc4a9 UTSW 18 36,668,331 (GRCm39) splice site probably benign
R0989:Slc4a9 UTSW 18 36,669,920 (GRCm39) nonsense probably null
R1016:Slc4a9 UTSW 18 36,664,478 (GRCm39) missense probably benign 0.12
R1469:Slc4a9 UTSW 18 36,664,154 (GRCm39) missense probably benign
R1469:Slc4a9 UTSW 18 36,664,154 (GRCm39) missense probably benign
R1598:Slc4a9 UTSW 18 36,661,424 (GRCm39) nonsense probably null
R1710:Slc4a9 UTSW 18 36,665,075 (GRCm39) missense probably benign
R2041:Slc4a9 UTSW 18 36,663,846 (GRCm39) missense possibly damaging 0.93
R2216:Slc4a9 UTSW 18 36,663,798 (GRCm39) missense probably benign 0.05
R3899:Slc4a9 UTSW 18 36,668,616 (GRCm39) missense probably benign 0.09
R5236:Slc4a9 UTSW 18 36,663,900 (GRCm39) missense probably benign
R5902:Slc4a9 UTSW 18 36,664,560 (GRCm39) missense probably damaging 1.00
R5902:Slc4a9 UTSW 18 36,662,386 (GRCm39) splice site probably null
R5978:Slc4a9 UTSW 18 36,668,456 (GRCm39) missense probably damaging 1.00
R6438:Slc4a9 UTSW 18 36,668,740 (GRCm39) missense probably benign 0.00
R6452:Slc4a9 UTSW 18 36,664,512 (GRCm39) missense probably damaging 1.00
R7238:Slc4a9 UTSW 18 36,662,773 (GRCm39) missense probably benign 0.00
R7329:Slc4a9 UTSW 18 36,673,874 (GRCm39) missense possibly damaging 0.76
R7409:Slc4a9 UTSW 18 36,663,858 (GRCm39) missense probably damaging 0.99
R7649:Slc4a9 UTSW 18 36,661,430 (GRCm39) missense probably benign 0.16
R7694:Slc4a9 UTSW 18 36,669,902 (GRCm39) missense probably damaging 0.99
R7856:Slc4a9 UTSW 18 36,661,751 (GRCm39) missense probably benign 0.04
R8523:Slc4a9 UTSW 18 36,665,196 (GRCm39) missense possibly damaging 0.91
R9003:Slc4a9 UTSW 18 36,673,787 (GRCm39) critical splice acceptor site probably null
R9165:Slc4a9 UTSW 18 36,666,676 (GRCm39) missense probably benign 0.00
R9475:Slc4a9 UTSW 18 36,662,269 (GRCm39) missense probably null 1.00
R9509:Slc4a9 UTSW 18 36,668,443 (GRCm39) missense probably damaging 0.98
R9573:Slc4a9 UTSW 18 36,668,589 (GRCm39) missense probably damaging 1.00
Z1177:Slc4a9 UTSW 18 36,664,481 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07