Incidental Mutation 'R7690:Slc4a5'
ID 593331
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 045754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83196810-83281927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83262854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 782 (F782S)
Ref Sequence ENSEMBL: ENSMUSP00000109533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039212] [ENSMUST00000113899] [ENSMUST00000113900]
AlphaFold E9Q3M5
Predicted Effect probably damaging
Transcript: ENSMUST00000039212
AA Change: F667S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: F667S

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 damaging
Transcript: ENSMUST00000113899
AA Change: F667S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: F667S

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 damaging
Transcript: ENSMUST00000113900
AA Change: F782S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: F782S

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
Meta Mutation Damage Score 0.7611 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null 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
R0281:Slc4a5 UTSW 6 83,244,549 (GRCm39) splice site probably benign
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
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'- TGAAGAAGGCTCCCAAGTTCTC -3'
(R):5'- CACTGGTGGGCAGAACATAC -3'

Sequencing Primer
(F):5'- CCTCAAGGTGGGTGCTAACATTATC -3'
(R):5'- ACATACAAAGGGCCAGAGTAC -3'
Posted On 2019-11-12