Incidental Mutation 'R4158:Slc26a7'
ID 315617
Institutional Source Beutler Lab
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Name solute carrier family 26, member 7
Synonyms
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4158 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly 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
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging 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
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging 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
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign 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
R4160: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'- TGCGGTGAATAGTAGCTGAGC -3'

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