Incidental Mutation 'R2216:Slc4a9'
ID 241189
Institutional Source Beutler Lab
Gene Symbol Slc4a9
Ensembl Gene ENSMUSG00000024485
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 9
Synonyms D630024F24Rik, AE4
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 36661200-36689326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36663798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 274 (H274R)
Ref Sequence ENSEMBL: ENSMUSP00000111358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074298] [ENSMUST00000115694]
AlphaFold A0A494BA31
Predicted Effect probably benign
Transcript: ENSMUST00000074298
AA Change: H274R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: H274R

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: H274R

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: H274R

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 71,922,272 (GRCm39) P146T probably damaging Het
Arnt2 T A 7: 83,924,559 (GRCm39) T423S probably damaging Het
Bend5 A G 4: 111,305,787 (GRCm39) N277S probably null Het
Cd22 G T 7: 30,566,471 (GRCm39) T816N probably damaging Het
Cep126 G A 9: 8,120,679 (GRCm39) R115C probably damaging Het
Cep85 T C 4: 133,858,741 (GRCm39) H710R possibly damaging Het
Cmya5 A T 13: 93,230,003 (GRCm39) L1695H probably damaging Het
Col24a1 T C 3: 145,020,742 (GRCm39) V371A probably benign Het
Csmd1 T A 8: 17,077,355 (GRCm39) probably null Het
Cyp1a1 T A 9: 57,609,352 (GRCm39) probably null Het
Dennd1c C T 17: 57,381,492 (GRCm39) probably null Het
Dmxl1 G A 18: 50,026,990 (GRCm39) V2033I probably benign Het
Dtna A G 18: 23,702,622 (GRCm39) H51R probably damaging Het
Dysf G A 6: 84,184,227 (GRCm39) probably null Het
Gcn1 T A 5: 115,731,720 (GRCm39) V945E probably benign Het
Gpbar1 C G 1: 74,318,053 (GRCm39) L99V probably damaging Het
Hdac9 A T 12: 34,479,516 (GRCm39) D212E probably damaging Het
Itga1 A T 13: 115,133,565 (GRCm39) D448E probably benign Het
Itga2b T A 11: 102,358,692 (GRCm39) N75I probably benign Het
Klra7 T C 6: 130,205,549 (GRCm39) E117G probably benign Het
Kmt2b G A 7: 30,273,490 (GRCm39) R2349C probably benign Het
Masp1 T C 16: 23,310,805 (GRCm39) N209S probably benign Het
Mybpc2 C T 7: 44,161,924 (GRCm39) probably null Het
Myh15 C G 16: 48,986,201 (GRCm39) S1557* probably null Het
Myo3a A C 2: 22,467,783 (GRCm39) T346P probably benign Het
Nim1k A G 13: 120,175,751 (GRCm39) Y152H probably damaging Het
Nrp2 C T 1: 62,802,077 (GRCm39) R507* probably null Het
Or13n4 T A 7: 106,423,205 (GRCm39) H176L probably damaging Het
Or5e1 C T 7: 108,354,819 (GRCm39) T252M probably damaging Het
Parp14 T C 16: 35,677,575 (GRCm39) I798V probably benign Het
Pcnx2 C T 8: 126,614,816 (GRCm39) A212T probably benign Het
Pkhd1l1 A T 15: 44,437,291 (GRCm39) H3522L probably damaging Het
Pram1 C T 17: 33,860,258 (GRCm39) A275V probably benign Het
Pramel18 T A 4: 101,767,257 (GRCm39) W169R probably damaging Het
Prkag1 A T 15: 98,713,827 (GRCm39) M1K probably null Het
Prss52 T C 14: 64,351,042 (GRCm39) S276P probably damaging Het
Ranbp17 A T 11: 33,431,125 (GRCm39) V284D probably damaging Het
Reln T C 5: 22,253,003 (GRCm39) D648G probably benign Het
Rnf112 A G 11: 61,343,105 (GRCm39) L190P probably damaging Het
Scn5a G T 9: 119,314,678 (GRCm39) P2010Q probably benign Het
Scn5a T C 9: 119,342,151 (GRCm39) Y1138C probably benign Het
Slc5a6 T G 5: 31,196,679 (GRCm39) E391D possibly damaging Het
Speer2 T C 16: 69,655,730 (GRCm39) Q32R possibly damaging Het
Tars1 A G 15: 11,389,794 (GRCm39) V372A probably benign Het
Thsd7a A T 6: 12,337,267 (GRCm39) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,066,301 (GRCm39) Y222C probably benign Het
Trim40 T C 17: 37,199,875 (GRCm39) I68V probably benign Het
Trp53tg5 T C 2: 164,313,226 (GRCm39) I150V probably benign Het
Ube2u T C 4: 100,389,365 (GRCm39) V109A probably benign Het
Usp54 A T 14: 20,611,908 (GRCm39) D969E probably benign Het
Vil1 G T 1: 74,464,838 (GRCm39) R495L probably benign Het
Wfs1 T A 5: 37,124,564 (GRCm39) K700* probably null Het
Zcchc8 A G 5: 123,845,466 (GRCm39) L298P probably damaging Het
Zfp946 A T 17: 22,673,697 (GRCm39) Q150H possibly damaging Het
Other mutations in Slc4a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Slc4a9 APN 18 36,672,649 (GRCm39) splice site probably benign
IGL01890:Slc4a9 APN 18 36,662,760 (GRCm39) missense possibly damaging 0.63
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
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
Predicted Primers PCR Primer
(F):5'- GGCTGAAGTTTCCAGTTCACTG -3'
(R):5'- CCATAATCAAGGTGAAGATCGGC -3'

Sequencing Primer
(F):5'- TTCACTGCTGGCCCAAGGTAG -3'
(R):5'- TCGGCATGGAATTAAGCCC -3'
Posted On 2014-10-15