Incidental Mutation 'R4160:Slc26a7'
ID 315692
Institutional Source Beutler Lab
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Name solute carrier family 26, member 7
Synonyms
MMRRC Submission 041003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4160 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 14502430-14621805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14544197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 369 (T369A)
Ref Sequence ENSEMBL: ENSMUSP00000041789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042221]
AlphaFold Q8R2Z3
Predicted Effect probably benign
Transcript: ENSMUST00000042221
AA Change: T369A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: T369A

DomainStartEndE-ValueType
Pfam:Sulfate_transp 47 444 6.9e-95 PFAM
transmembrane domain 445 467 N/A INTRINSIC
Pfam:STAS 493 637 4.7e-19 PFAM
Meta Mutation Damage Score 0.6613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 89% (34/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate. Urine is more concentrated and has an elevated pH. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb3 G T 15: 98,538,601 (GRCm39) G148C probably damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
D130043K22Rik A C 13: 25,046,679 (GRCm39) E360D probably benign Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Ibtk T C 9: 85,585,143 (GRCm39) E1167G probably benign Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Myh13 T C 11: 67,255,636 (GRCm39) probably benign Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pdia3 A T 2: 121,244,596 (GRCm39) D26V probably damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Pkn2 G A 3: 142,509,325 (GRCm39) P740S probably benign Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Pld2 T C 11: 70,432,253 (GRCm39) L124P probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Prr36 G T 8: 4,262,910 (GRCm39) Q919K probably benign Het
Ptpn1 T C 2: 167,809,731 (GRCm39) I113T probably benign Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Rbl1 A G 2: 157,034,039 (GRCm39) probably benign Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Other mutations in Slc26a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Slc26a7 APN 4 14,548,403 (GRCm39) splice site probably benign
IGL00943:Slc26a7 APN 4 14,506,477 (GRCm39) missense probably benign 0.01
IGL01878:Slc26a7 APN 4 14,519,388 (GRCm39) splice site probably null
IGL02698:Slc26a7 APN 4 14,593,867 (GRCm39) missense possibly damaging 0.93
IGL03133:Slc26a7 APN 4 14,532,576 (GRCm39) missense possibly damaging 0.49
R0200:Slc26a7 UTSW 4 14,621,317 (GRCm39) missense probably benign 0.04
R0240:Slc26a7 UTSW 4 14,532,651 (GRCm39) missense probably damaging 1.00
R0240:Slc26a7 UTSW 4 14,532,651 (GRCm39) missense probably damaging 1.00
R0608:Slc26a7 UTSW 4 14,621,317 (GRCm39) missense probably benign 0.04
R0833:Slc26a7 UTSW 4 14,593,873 (GRCm39) missense probably damaging 1.00
R1496:Slc26a7 UTSW 4 14,506,489 (GRCm39) missense probably benign 0.01
R1592:Slc26a7 UTSW 4 14,552,470 (GRCm39) missense probably benign 0.09
R1656:Slc26a7 UTSW 4 14,621,221 (GRCm39) missense possibly damaging 0.90
R1758:Slc26a7 UTSW 4 14,548,491 (GRCm39) missense possibly damaging 0.58
R1861:Slc26a7 UTSW 4 14,522,873 (GRCm39) missense probably benign
R2429:Slc26a7 UTSW 4 14,506,399 (GRCm39) splice site probably benign
R2850:Slc26a7 UTSW 4 14,593,806 (GRCm39) splice site probably benign
R3442:Slc26a7 UTSW 4 14,565,511 (GRCm39) missense probably benign 0.11
R4158:Slc26a7 UTSW 4 14,544,197 (GRCm39) missense probably benign 0.38
R4721:Slc26a7 UTSW 4 14,510,261 (GRCm39) splice site probably null
R4727:Slc26a7 UTSW 4 14,590,477 (GRCm39) missense probably damaging 1.00
R4825:Slc26a7 UTSW 4 14,546,309 (GRCm39) missense probably benign 0.18
R4992:Slc26a7 UTSW 4 14,565,508 (GRCm39) missense probably damaging 1.00
R5024:Slc26a7 UTSW 4 14,532,572 (GRCm39) missense possibly damaging 0.91
R5344:Slc26a7 UTSW 4 14,519,402 (GRCm39) missense probably benign 0.00
R5373:Slc26a7 UTSW 4 14,546,447 (GRCm39) missense probably damaging 0.99
R5540:Slc26a7 UTSW 4 14,506,621 (GRCm39) missense probably benign
R6046:Slc26a7 UTSW 4 14,505,471 (GRCm39) missense probably benign 0.24
R6320:Slc26a7 UTSW 4 14,524,498 (GRCm39) missense probably benign 0.01
R6685:Slc26a7 UTSW 4 14,593,820 (GRCm39) missense probably damaging 1.00
R6685:Slc26a7 UTSW 4 14,593,819 (GRCm39) missense probably damaging 1.00
R6880:Slc26a7 UTSW 4 14,516,159 (GRCm39) missense possibly damaging 0.57
R6958:Slc26a7 UTSW 4 14,506,442 (GRCm39) missense probably benign 0.00
R7000:Slc26a7 UTSW 4 14,552,476 (GRCm39) missense probably benign
R7090:Slc26a7 UTSW 4 14,565,460 (GRCm39) nonsense probably null
R7122:Slc26a7 UTSW 4 14,533,639 (GRCm39) missense probably damaging 1.00
R7361:Slc26a7 UTSW 4 14,546,305 (GRCm39) missense probably damaging 1.00
R8035:Slc26a7 UTSW 4 14,621,338 (GRCm39) missense possibly damaging 0.46
R8252:Slc26a7 UTSW 4 14,621,415 (GRCm39) start gained probably benign
R8262:Slc26a7 UTSW 4 14,621,269 (GRCm39) missense probably benign 0.01
R8989:Slc26a7 UTSW 4 14,533,642 (GRCm39) missense probably damaging 1.00
R9013:Slc26a7 UTSW 4 14,506,514 (GRCm39) missense probably damaging 1.00
R9127:Slc26a7 UTSW 4 14,593,873 (GRCm39) missense probably damaging 1.00
R9184:Slc26a7 UTSW 4 14,506,630 (GRCm39) missense possibly damaging 0.48
R9287:Slc26a7 UTSW 4 14,516,165 (GRCm39) missense possibly damaging 0.56
R9377:Slc26a7 UTSW 4 14,516,189 (GRCm39) missense probably benign 0.04
R9563:Slc26a7 UTSW 4 14,519,496 (GRCm39) missense probably benign 0.03
R9565:Slc26a7 UTSW 4 14,519,496 (GRCm39) missense probably benign 0.03
R9609:Slc26a7 UTSW 4 14,532,636 (GRCm39) missense probably damaging 1.00
R9633:Slc26a7 UTSW 4 14,524,540 (GRCm39) missense possibly damaging 0.93
R9762:Slc26a7 UTSW 4 14,546,372 (GRCm39) missense probably damaging 1.00
R9765:Slc26a7 UTSW 4 14,522,862 (GRCm39) missense probably benign 0.00
R9794:Slc26a7 UTSW 4 14,590,416 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CCTGTGGAAAAGTCATTGATGGG -3'
(R):5'- GCGGTGAATAGTAGCTGAGC -3'

Sequencing Primer
(F):5'- AAAAGTCATTGATGGGAAAAATTCG -3'
(R):5'- GTAGCTGAGCATAAACAAGCTTC -3'
Posted On 2015-05-14