Incidental Mutation 'R0281:Slc4a5'
ID 37516
Institutional Source Beutler Lab
Gene Symbol Slc4a5
Ensembl Gene ENSMUSG00000068323
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 5
Synonyms C330016K18Rik
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R0281 (G1)
Quality Score 213
Status Validated
Chromosome 6
Chromosomal Location 83196810-83281927 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 83244549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039212] [ENSMUST00000113899] [ENSMUST00000113900]
AlphaFold E9Q3M5
Predicted Effect probably benign
Transcript: ENSMUST00000039212
SMART Domains Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323

DomainStartEndE-ValueType
Pfam:Band_3_cyto 25 292 5.2e-102 PFAM
low complexity region 321 350 N/A INTRINSIC
Pfam:HCO3_cotransp 364 884 1.1e-242 PFAM
transmembrane domain 891 913 N/A INTRINSIC
low complexity region 936 951 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113899
SMART Domains Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323

DomainStartEndE-ValueType
Pfam:Band_3_cyto 25 292 2.9e-102 PFAM
low complexity region 321 350 N/A INTRINSIC
Pfam:HCO3_cotransp 364 884 5.3e-243 PFAM
transmembrane domain 891 913 N/A INTRINSIC
low complexity region 936 951 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113900
SMART Domains Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323

DomainStartEndE-ValueType
Pfam:Band_3_cyto 140 407 3.4e-106 PFAM
low complexity region 436 465 N/A INTRINSIC
Pfam:HCO3_cotransp 480 999 1.6e-224 PFAM
transmembrane domain 1006 1028 N/A INTRINSIC
low complexity region 1051 1066 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arterial hypertension and renal metabolic acidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign Het
Other mutations in Slc4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Slc4a5 APN 6 83,262,881 (GRCm39) missense probably damaging 1.00
IGL00473:Slc4a5 APN 6 83,273,579 (GRCm39) missense probably damaging 1.00
IGL00861:Slc4a5 APN 6 83,276,453 (GRCm39) missense probably benign
IGL01025:Slc4a5 APN 6 83,239,515 (GRCm39) missense probably damaging 0.98
IGL01532:Slc4a5 APN 6 83,250,022 (GRCm39) splice site probably null
IGL01991:Slc4a5 APN 6 83,240,525 (GRCm39) missense possibly damaging 0.94
IGL02271:Slc4a5 APN 6 83,248,085 (GRCm39) splice site probably benign
IGL02565:Slc4a5 APN 6 83,276,487 (GRCm39) missense probably benign 0.00
IGL02669:Slc4a5 APN 6 83,240,525 (GRCm39) missense possibly damaging 0.79
IGL02994:Slc4a5 APN 6 83,249,106 (GRCm39) missense probably damaging 1.00
IGL03259:Slc4a5 APN 6 83,247,979 (GRCm39) missense probably damaging 1.00
IGL03264:Slc4a5 APN 6 83,238,507 (GRCm39) missense probably damaging 1.00
R0032:Slc4a5 UTSW 6 83,250,139 (GRCm39) missense probably damaging 1.00
R0091:Slc4a5 UTSW 6 83,254,537 (GRCm39) missense probably benign 0.00
R0366:Slc4a5 UTSW 6 83,272,854 (GRCm39) missense probably benign 0.02
R0668:Slc4a5 UTSW 6 83,248,054 (GRCm39) missense probably damaging 1.00
R1222:Slc4a5 UTSW 6 83,257,114 (GRCm39) missense probably damaging 1.00
R1550:Slc4a5 UTSW 6 83,248,039 (GRCm39) missense probably damaging 1.00
R1585:Slc4a5 UTSW 6 83,242,669 (GRCm39) missense probably damaging 1.00
R1731:Slc4a5 UTSW 6 83,273,617 (GRCm39) missense probably damaging 1.00
R1987:Slc4a5 UTSW 6 83,250,214 (GRCm39) missense possibly damaging 0.95
R2103:Slc4a5 UTSW 6 83,274,360 (GRCm39) missense probably benign 0.00
R2103:Slc4a5 UTSW 6 83,201,663 (GRCm39) missense probably benign 0.00
R2104:Slc4a5 UTSW 6 83,274,360 (GRCm39) missense probably benign 0.00
R2176:Slc4a5 UTSW 6 83,239,542 (GRCm39) missense probably damaging 0.98
R2920:Slc4a5 UTSW 6 83,241,369 (GRCm39) missense probably damaging 1.00
R2964:Slc4a5 UTSW 6 83,273,651 (GRCm39) missense probably damaging 1.00
R2965:Slc4a5 UTSW 6 83,273,651 (GRCm39) missense probably damaging 1.00
R2966:Slc4a5 UTSW 6 83,273,651 (GRCm39) missense probably damaging 1.00
R3755:Slc4a5 UTSW 6 83,265,285 (GRCm39) missense probably benign 0.26
R3756:Slc4a5 UTSW 6 83,265,285 (GRCm39) missense probably benign 0.26
R4293:Slc4a5 UTSW 6 83,237,511 (GRCm39) missense probably damaging 1.00
R4789:Slc4a5 UTSW 6 83,247,951 (GRCm39) missense probably benign 0.05
R4823:Slc4a5 UTSW 6 83,249,115 (GRCm39) missense probably damaging 1.00
R4854:Slc4a5 UTSW 6 83,247,999 (GRCm39) missense probably benign 0.00
R5461:Slc4a5 UTSW 6 83,262,836 (GRCm39) missense probably benign 0.29
R5707:Slc4a5 UTSW 6 83,238,397 (GRCm39) missense probably benign 0.11
R5747:Slc4a5 UTSW 6 83,248,011 (GRCm39) missense probably damaging 1.00
R5978:Slc4a5 UTSW 6 83,254,518 (GRCm39) missense probably benign 0.01
R6126:Slc4a5 UTSW 6 83,203,247 (GRCm39) missense probably benign 0.05
R6330:Slc4a5 UTSW 6 83,203,356 (GRCm39) missense probably benign
R6564:Slc4a5 UTSW 6 83,257,042 (GRCm39) missense possibly damaging 0.71
R6786:Slc4a5 UTSW 6 83,273,729 (GRCm39) critical splice donor site probably null
R7443:Slc4a5 UTSW 6 83,241,297 (GRCm39) missense probably benign 0.45
R7672:Slc4a5 UTSW 6 83,237,517 (GRCm39) missense probably damaging 1.00
R7690:Slc4a5 UTSW 6 83,262,854 (GRCm39) missense probably damaging 1.00
R7837:Slc4a5 UTSW 6 83,238,539 (GRCm39) missense probably benign 0.01
R8169:Slc4a5 UTSW 6 83,280,373 (GRCm39) missense probably benign 0.12
R8288:Slc4a5 UTSW 6 83,203,237 (GRCm39) missense probably benign 0.01
R8397:Slc4a5 UTSW 6 83,266,308 (GRCm39) critical splice donor site probably null
R8849:Slc4a5 UTSW 6 83,250,180 (GRCm39) missense probably damaging 1.00
R9033:Slc4a5 UTSW 6 83,237,457 (GRCm39) nonsense probably null
R9133:Slc4a5 UTSW 6 83,203,217 (GRCm39) missense possibly damaging 0.85
R9201:Slc4a5 UTSW 6 83,262,812 (GRCm39) missense probably benign 0.02
R9269:Slc4a5 UTSW 6 83,266,223 (GRCm39) missense possibly damaging 0.88
R9603:Slc4a5 UTSW 6 83,217,714 (GRCm39) missense probably benign 0.34
R9781:Slc4a5 UTSW 6 83,239,466 (GRCm39) missense probably benign 0.00
Z1177:Slc4a5 UTSW 6 83,257,015 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTCAGATGACCGCCTGCTCTTG -3'
(R):5'- GACGTGAACGCACATTGCACATAC -3'

Sequencing Primer
(F):5'- AACCAAGTGGGCATCCTG -3'
(R):5'- CCACAGAAAGACAGAAAATGATTCAG -3'
Posted On 2013-05-23