Incidental Mutation 'R1469:Slc4a9'
ID 197881
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 039522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R1469 (G1)
Quality Score 144
Status Validated
Chromosome 18
Chromosomal Location 36661200-36689326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36664154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 316 (F316L)
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: F316L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073910
Gene: ENSMUSG00000024485
AA Change: F316L

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: F316L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111358
Gene: ENSMUSG00000024485
AA Change: F316L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 90.6%
Validation Efficiency 98% (95/97)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,039,526 (GRCm39) V261E probably damaging Het
Abca15 A G 7: 119,981,720 (GRCm39) E1058G probably benign Het
Abcb5 T G 12: 118,831,681 (GRCm39) I1224L possibly damaging Het
Actn4 G A 7: 28,597,691 (GRCm39) probably benign Het
Actn4 A G 7: 28,604,753 (GRCm39) V348A probably benign Het
Agtr1b A T 3: 20,369,664 (GRCm39) L314H probably damaging Het
Ankrd55 T C 13: 112,504,460 (GRCm39) M402T probably benign Het
Antxrl T C 14: 33,789,388 (GRCm39) probably benign Het
Asap2 A G 12: 21,263,180 (GRCm39) Q265R probably benign Het
Atp2b4 G A 1: 133,634,677 (GRCm39) R1124C probably damaging Het
Atp2c1 A T 9: 105,312,351 (GRCm39) C353* probably null Het
Atp8b5 T A 4: 43,291,733 (GRCm39) probably null Het
Baz1b T A 5: 135,246,833 (GRCm39) Y761N probably damaging Het
Bend6 A G 1: 33,903,824 (GRCm39) V38A probably benign Het
Camk1g T C 1: 193,044,399 (GRCm39) E5G possibly damaging Het
Ccdc14 T A 16: 34,527,152 (GRCm39) H352Q probably damaging Het
Cdh2 A G 18: 16,757,324 (GRCm39) V641A possibly damaging Het
Celsr2 C A 3: 108,321,424 (GRCm39) D463Y probably damaging Het
Cldn16 C A 16: 26,292,930 (GRCm39) probably benign Het
Clec7a A C 6: 129,449,535 (GRCm39) probably benign Het
Cnih2 T C 19: 5,143,730 (GRCm39) Y142C probably damaging Het
Coa5 T A 1: 37,459,681 (GRCm39) R71* probably null Het
Csmd3 A T 15: 47,532,598 (GRCm39) Y2532* probably null Het
Cytl1 A T 5: 37,892,991 (GRCm39) M34L probably benign Het
Dctn1 T A 6: 83,169,871 (GRCm39) I590N probably damaging Het
Dhx57 T C 17: 80,561,847 (GRCm39) H889R probably damaging Het
Dock10 A G 1: 80,490,275 (GRCm39) I1948T probably benign Het
Dock3 A T 9: 106,832,908 (GRCm39) N1034K probably benign Het
Dzip1l G A 9: 99,541,829 (GRCm39) probably null Het
Eif4g1 T A 16: 20,498,758 (GRCm39) V439E possibly damaging Het
Eml5 T C 12: 98,825,082 (GRCm39) I712V probably benign Het
Entrep1 G A 19: 23,950,970 (GRCm39) T537I probably benign Het
Epha3 C T 16: 63,473,857 (GRCm39) G300D probably damaging Het
Erbb4 A C 1: 68,599,841 (GRCm39) S79A probably damaging Het
Gclc T C 9: 77,688,419 (GRCm39) V205A probably benign Het
Gdpd4 A G 7: 97,623,673 (GRCm39) probably null Het
Gm11564 C T 11: 99,706,058 (GRCm39) C124Y unknown Het
Gm16494 T C 17: 47,327,770 (GRCm39) E38G probably damaging Het
Gtf2h1 T C 7: 46,454,549 (GRCm39) probably null Het
Gtsf2 G T 15: 103,349,644 (GRCm39) R68S probably benign Het
Heatr5b T C 17: 79,115,813 (GRCm39) Q881R probably damaging Het
Hmox1 C A 8: 75,825,463 (GRCm39) L236I probably benign Het
Ighv8-12 T C 12: 115,611,963 (GRCm39) I7V probably benign Het
Itprip A G 19: 47,885,314 (GRCm39) Y434H probably damaging Het
Izumo1 T C 7: 45,272,437 (GRCm39) S73P probably damaging Het
Kifbp A T 10: 62,395,229 (GRCm39) F471Y probably damaging Het
Knl1 A G 2: 118,901,827 (GRCm39) N1176S possibly damaging Het
Limch1 T C 5: 67,039,323 (GRCm39) probably benign Het
Mecom A T 3: 30,034,197 (GRCm39) L493Q probably damaging Het
Mprip T C 11: 59,650,016 (GRCm39) V1240A probably damaging Het
Mrpl3 T C 9: 104,954,201 (GRCm39) S302P probably damaging Het
Muc19 T C 15: 91,758,498 (GRCm39) noncoding transcript Het
Mycbp2 T C 14: 103,425,956 (GRCm39) T2390A probably damaging Het
Myo1c T C 11: 75,560,787 (GRCm39) S766P probably damaging Het
Myo9b A G 8: 71,743,680 (GRCm39) Q247R probably damaging Het
Nav3 G A 10: 109,596,369 (GRCm39) T1423I probably damaging Het
Nefh A T 11: 4,890,066 (GRCm39) I851N probably benign Het
Nup98 T C 7: 101,788,008 (GRCm39) T1004A probably benign Het
Or1e17 T C 11: 73,831,383 (GRCm39) F104L probably benign Het
Or1e22 G A 11: 73,377,149 (GRCm39) S167L possibly damaging Het
Or5k8 G A 16: 58,644,973 (GRCm39) T33I probably benign Het
Or5p76 T C 7: 108,122,411 (GRCm39) T249A probably benign Het
Osgin1 G T 8: 120,172,124 (GRCm39) R306L possibly damaging Het
Otof A G 5: 30,537,571 (GRCm39) L1246P probably benign Het
Pde8a T A 7: 80,952,019 (GRCm39) N273K probably damaging Het
Phf14 T A 6: 11,933,726 (GRCm39) M196K possibly damaging Het
Pkd1l3 T C 8: 110,373,585 (GRCm39) S1374P possibly damaging Het
Pkhd1l1 T C 15: 44,400,282 (GRCm39) V2142A probably benign Het
Plb1 A G 5: 32,512,170 (GRCm39) E1318G possibly damaging Het
Plekhh2 A G 17: 84,883,199 (GRCm39) I756V probably benign Het
Prag1 A T 8: 36,613,452 (GRCm39) probably benign Het
Primpol A G 8: 47,046,672 (GRCm39) V208A probably benign Het
Ptch2 C A 4: 116,965,662 (GRCm39) A389E probably benign Het
Pzp A G 6: 128,489,319 (GRCm39) Y431H probably benign Het
Rnf43 G A 11: 87,622,233 (GRCm39) G445R probably damaging Het
Scn5a A T 9: 119,362,727 (GRCm39) probably null Het
Sf3a1 A T 11: 4,125,380 (GRCm39) probably benign Het
Shisa9 T A 16: 11,802,935 (GRCm39) M164K probably damaging Het
Skint1 A G 4: 111,882,708 (GRCm39) I251V probably benign Het
Slc16a14 C T 1: 84,907,182 (GRCm39) D31N probably damaging Het
Slc22a13 T C 9: 119,022,361 (GRCm39) S548G possibly damaging Het
Smchd1 C T 17: 71,656,725 (GRCm39) R1914H probably damaging Het
Snx16 C T 3: 10,499,431 (GRCm39) D200N probably damaging Het
Spock3 A G 8: 63,404,934 (GRCm39) D34G probably damaging Het
Sspo T C 6: 48,467,916 (GRCm39) C4154R probably damaging Het
Sytl3 C T 17: 6,954,723 (GRCm39) A131V probably benign Het
Tacc1 T A 8: 25,672,271 (GRCm39) D319V probably benign Het
Tead1 A T 7: 112,475,391 (GRCm39) K234I probably damaging Het
Tgfbrap1 C T 1: 43,114,618 (GRCm39) V161I probably benign Het
Tmem94 T C 11: 115,685,917 (GRCm39) probably benign Het
Tnfaip3 A G 10: 18,884,017 (GRCm39) V121A probably damaging Het
Tnnt2 A G 1: 135,779,793 (GRCm39) T297A possibly damaging Het
Trappc11 G A 8: 47,957,000 (GRCm39) L809F probably damaging Het
Ttn T C 2: 76,601,869 (GRCm39) I18598V probably benign Het
Ube2o A G 11: 116,436,650 (GRCm39) probably benign Het
Unc5a A G 13: 55,144,232 (GRCm39) N186D probably damaging Het
Uqcrfs1 C A 13: 30,724,784 (GRCm39) G252V probably damaging Het
Vmn2r115 T C 17: 23,564,992 (GRCm39) I293T probably damaging Het
Vmn2r9 T C 5: 108,991,694 (GRCm39) T556A probably benign Het
Wnk1 G A 6: 119,927,645 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,997,529 (GRCm39) Y1029N probably benign Het
Zfp451 T A 1: 33,808,894 (GRCm39) K989M possibly damaging Het
Zfpm1 C T 8: 123,062,585 (GRCm39) T548M probably 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
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
Predicted Primers PCR Primer
(F):5'- GGCATTCACAGGGTGGGATCTAAC -3'
(R):5'- CTTCAGTGGCATCTCCCAGAAGAC -3'

Sequencing Primer
(F):5'- GGTGGGATCTAACTTCTTATCAGAC -3'
(R):5'- AGTGATCCAGGTTTCCACAC -3'
Posted On 2014-05-23