Incidental Mutation 'IGL03133:Slc26a7'
ID410403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Namesolute carrier family 26, member 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL03133
Quality Score
Status
Chromosome4
Chromosomal Location14502430-14621805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14532576 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 433 (V433M)
Ref Sequence ENSEMBL: ENSMUSP00000041789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042221]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042221
AA Change: V433M

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: V433M

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
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,896 probably benign Het
Ano5 C T 7: 51,576,512 R505* probably null Het
Asphd1 A G 7: 126,948,280 C284R possibly damaging Het
Cep192 T A 18: 67,810,105 W158R probably benign Het
Ces2h T A 8: 105,016,779 D188E probably damaging Het
Dab1 G A 4: 104,727,580 V306I probably benign Het
Dcc A G 18: 71,262,955 probably benign Het
Dennd6b T A 15: 89,188,523 probably null Het
Dmwd T A 7: 19,076,637 V123D probably damaging Het
Eno1 A G 4: 150,245,344 probably benign Het
Fat2 G A 11: 55,286,043 T1542I probably benign Het
Fcrl1 T C 3: 87,389,392 S274P probably benign Het
Gmpr T C 13: 45,517,018 V72A probably benign Het
Kank2 T C 9: 21,795,641 E27G probably null Het
Mtor G T 4: 148,484,319 A1099S probably benign Het
Ofcc1 T C 13: 40,072,768 I763V probably benign Het
Olfr1023 G T 2: 85,887,134 E111D probably damaging Het
Olfr1065 A G 2: 86,445,658 I108T probably damaging Het
Olfr487 G T 7: 108,212,387 S47R possibly damaging Het
Olfr870 T A 9: 20,170,713 N286I probably damaging Het
Piwil1 C A 5: 128,742,029 H201N probably benign Het
Spata31d1c T C 13: 65,034,985 Y114H probably benign Het
Stx7 A T 10: 24,185,038 N221I probably damaging Het
Tbc1d31 A T 15: 57,942,459 probably benign Het
Ubxn7 T G 16: 32,381,781 L393R probably damaging Het
Vit A T 17: 78,566,071 M59L probably benign Het
Vmn1r5 T A 6: 56,985,615 C92S probably benign Het
Other mutations in Slc26a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Slc26a7 APN 4 14548403 splice site probably benign
IGL00943:Slc26a7 APN 4 14506477 missense probably benign 0.01
IGL01878:Slc26a7 APN 4 14519388 splice site probably null
IGL02698:Slc26a7 APN 4 14593867 missense possibly damaging 0.93
R0200:Slc26a7 UTSW 4 14621317 missense probably benign 0.04
R0240:Slc26a7 UTSW 4 14532651 missense probably damaging 1.00
R0240:Slc26a7 UTSW 4 14532651 missense probably damaging 1.00
R0608:Slc26a7 UTSW 4 14621317 missense probably benign 0.04
R0833:Slc26a7 UTSW 4 14593873 missense probably damaging 1.00
R1496:Slc26a7 UTSW 4 14506489 missense probably benign 0.01
R1592:Slc26a7 UTSW 4 14552470 missense probably benign 0.09
R1656:Slc26a7 UTSW 4 14621221 missense possibly damaging 0.90
R1758:Slc26a7 UTSW 4 14548491 missense possibly damaging 0.58
R1861:Slc26a7 UTSW 4 14522873 missense probably benign
R2429:Slc26a7 UTSW 4 14506399 splice site probably benign
R2850:Slc26a7 UTSW 4 14593806 splice site probably benign
R3442:Slc26a7 UTSW 4 14565511 missense probably benign 0.11
R4158:Slc26a7 UTSW 4 14544197 missense probably benign 0.38
R4160:Slc26a7 UTSW 4 14544197 missense probably benign 0.38
R4721:Slc26a7 UTSW 4 14510261 splice site probably null
R4727:Slc26a7 UTSW 4 14590477 missense probably damaging 1.00
R4825:Slc26a7 UTSW 4 14546309 missense probably benign 0.18
R4992:Slc26a7 UTSW 4 14565508 missense probably damaging 1.00
R5024:Slc26a7 UTSW 4 14532572 missense possibly damaging 0.91
R5344:Slc26a7 UTSW 4 14519402 missense probably benign 0.00
R5373:Slc26a7 UTSW 4 14546447 missense probably damaging 0.99
R5540:Slc26a7 UTSW 4 14506621 missense probably benign
R6046:Slc26a7 UTSW 4 14505471 missense probably benign 0.24
R6320:Slc26a7 UTSW 4 14524498 missense probably benign 0.01
R6685:Slc26a7 UTSW 4 14593819 missense probably damaging 1.00
R6685:Slc26a7 UTSW 4 14593820 missense probably damaging 1.00
R6880:Slc26a7 UTSW 4 14516159 missense possibly damaging 0.57
R6958:Slc26a7 UTSW 4 14506442 missense probably benign 0.00
R7000:Slc26a7 UTSW 4 14552476 missense probably benign
R7090:Slc26a7 UTSW 4 14565460 nonsense probably null
R7122:Slc26a7 UTSW 4 14533639 missense probably damaging 1.00
R7361:Slc26a7 UTSW 4 14546305 missense probably damaging 1.00
R8035:Slc26a7 UTSW 4 14621338 missense possibly damaging 0.46
R8252:Slc26a7 UTSW 4 14621415 start gained probably benign
R8262:Slc26a7 UTSW 4 14621269 missense probably benign 0.01
Posted On2016-08-02