Incidental Mutation 'IGL00473:Slc4a5'
ID 14107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a5
Ensembl Gene ENSMUSG00000068323
Gene Name solute carrier family 4, sodium bicarbonate cotransporter, member 5
Synonyms C330016K18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL00473
Quality Score
Status
Chromosome 6
Chromosomal Location 83196810-83281927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83273579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 973 (L973P)
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: L858P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041007
Gene: ENSMUSG00000068323
AA Change: L858P

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: L858P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109532
Gene: ENSMUSG00000068323
AA Change: L858P

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: L973P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109533
Gene: ENSMUSG00000068323
AA Change: L973P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131432
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arcn1 A G 9: 44,668,444 (GRCm39) V264A probably benign Het
Asap1 T C 15: 64,045,064 (GRCm39) probably benign Het
Brpf1 A C 6: 113,293,645 (GRCm39) Q571H probably damaging Het
C9orf72 C T 4: 35,213,616 (GRCm39) G178E possibly damaging Het
Creb3 G T 4: 43,565,517 (GRCm39) R232L probably benign Het
Cst5 G T 2: 149,247,293 (GRCm39) S3I unknown Het
Cyp4a14 A G 4: 115,347,149 (GRCm39) probably benign Het
Daxx C T 17: 34,130,581 (GRCm39) Q199* probably null Het
Eml5 A G 12: 98,771,751 (GRCm39) probably benign Het
Gbp6 T A 5: 105,422,145 (GRCm39) K520* probably null Het
Gcfc2 T A 6: 81,921,355 (GRCm39) C454S probably damaging Het
Gm9894 T A 13: 67,913,236 (GRCm39) noncoding transcript Het
Gpr15 C T 16: 58,538,441 (GRCm39) C216Y probably damaging Het
Gzmn T C 14: 56,404,436 (GRCm39) K134E probably benign Het
Kat2b T G 17: 53,970,651 (GRCm39) I679S possibly damaging Het
Klhl10 A G 11: 100,347,240 (GRCm39) Y478C probably damaging Het
Mapt A G 11: 104,178,009 (GRCm39) D54G probably damaging Het
Mocs1 A G 17: 49,740,229 (GRCm39) E52G probably benign Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Prdm6 T A 18: 53,673,357 (GRCm39) F172L probably benign Het
Prl7b1 A T 13: 27,788,573 (GRCm39) V94D probably damaging Het
Rasal2 T C 1: 156,975,387 (GRCm39) T1116A probably benign Het
Rreb1 A T 13: 38,114,767 (GRCm39) K709* probably null Het
Ruvbl1 A T 6: 88,468,550 (GRCm39) R357W probably damaging Het
Srp72 A G 5: 77,132,023 (GRCm39) Y234C probably damaging Het
Synrg G A 11: 83,930,072 (GRCm39) M1070I probably damaging Het
Zan A T 5: 137,462,512 (GRCm39) I889K possibly damaging Het
Zbtb40 G A 4: 136,714,651 (GRCm39) T1046M probably damaging Het
Zfp978 A G 4: 147,475,317 (GRCm39) N288S probably benign Het
Zfpm2 A T 15: 40,962,683 (GRCm39) K247M probably damaging Het
Other mutations in Slc4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Slc4a5 APN 6 83,262,881 (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
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
Posted On 2012-12-06