Incidental Mutation 'R0608:Slc26a7'
ID 54388
Institutional Source Beutler Lab
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Name solute carrier family 26, member 7
Synonyms
MMRRC Submission 038797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0608 (G1)
Quality Score 169
Status Not validated
Chromosome 4
Chromosomal Location 14502430-14621805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14621317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 23 (D23G)
Ref Sequence ENSEMBL: ENSMUSP00000116157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023917] [ENSMUST00000042221] [ENSMUST00000143105] [ENSMUST00000149633]
AlphaFold Q8R2Z3
Predicted Effect probably benign
Transcript: ENSMUST00000023917
SMART Domains Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151

DomainStartEndE-ValueType
LRR 36 58 4.57e0 SMART
LRR 59 81 2.82e0 SMART
LRR 82 105 7.55e-1 SMART
LRR 106 128 7.79e0 SMART
LRR 129 151 1.99e0 SMART
LRR 152 174 5.72e0 SMART
LRR 175 197 3.86e0 SMART
LRR 198 220 8.24e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042221
AA Change: D23G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: D23G

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
Predicted Effect probably benign
Transcript: ENSMUST00000143105
AA Change: D23G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122870
Gene: ENSMUSG00000040569
AA Change: D23G

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 32 99 7.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149633
AA Change: D23G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116157
Gene: ENSMUSG00000040569
AA Change: D23G

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 32 115 9.9e-28 PFAM
transmembrane domain 145 167 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ampd3 C A 7: 110,394,997 (GRCm39) D315E probably damaging Het
Ampd3 T A 7: 110,394,998 (GRCm39) F316I probably damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atxn2l A G 7: 126,100,588 (GRCm39) probably null Het
Bckdhb T G 9: 83,835,789 (GRCm39) F98V probably damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Ccdc28a G A 10: 18,100,699 (GRCm39) R90C probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cep128 T G 12: 90,966,309 (GRCm39) probably benign Het
Cep72 A T 13: 74,186,423 (GRCm39) H249Q probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Col11a1 T C 3: 114,012,364 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah17 G T 11: 117,981,575 (GRCm39) Y1716* probably null Het
Dnm1 T C 2: 32,225,836 (GRCm39) E383G possibly damaging Het
Dst C A 1: 34,329,437 (GRCm39) probably null Het
Edil3 T C 13: 89,332,968 (GRCm39) S375P probably damaging Het
Eme1 A G 11: 94,540,908 (GRCm39) C277R probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Fbxl6 C T 15: 76,420,953 (GRCm39) V341M probably benign Het
Fgf14 A G 14: 124,914,015 (GRCm39) S39P probably damaging Het
Fmo4 C T 1: 162,631,220 (GRCm39) R249H possibly damaging Het
Gle1 T A 2: 29,830,240 (GRCm39) D265E probably benign Het
Gml2 T C 15: 74,693,235 (GRCm39) probably null Het
Golgb1 G T 16: 36,736,692 (GRCm39) E1980* probably null Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Heca T C 10: 17,791,039 (GRCm39) D339G possibly damaging Het
Hepacam2 T C 6: 3,483,479 (GRCm39) T101A possibly damaging Het
Ift88 T C 14: 57,733,678 (GRCm39) V707A probably benign Het
Kdm3a C T 6: 71,597,030 (GRCm39) G252D probably benign Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Kntc1 A T 5: 123,924,137 (GRCm39) N1008Y probably damaging Het
Lrp2 G T 2: 69,316,587 (GRCm39) N2131K probably benign Het
Magi3 C G 3: 103,924,873 (GRCm39) G1092A probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mrps26 G T 2: 130,405,778 (GRCm39) R27L possibly damaging Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Naif1 T C 2: 32,344,908 (GRCm39) M204T probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Neb A T 2: 52,216,769 (GRCm39) D135E probably benign Het
Nlrp6 C T 7: 140,503,399 (GRCm39) Q502* probably null Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Obi1 T C 14: 104,716,963 (GRCm39) Y470C probably damaging Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Pnpla8 C T 12: 44,330,246 (GRCm39) P48L probably benign Het
Rab44 T A 17: 29,366,317 (GRCm39) probably null Het
Ranbp2 T C 10: 58,329,720 (GRCm39) I3031T probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Serpinh1 A G 7: 98,998,601 (GRCm39) C10R unknown Het
Sh2d4a A G 8: 68,799,346 (GRCm39) Y405C possibly damaging Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spire1 T C 18: 67,661,945 (GRCm39) R163G probably damaging Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Susd2 C T 10: 75,474,069 (GRCm39) A509T probably benign Het
Sycp2 A G 2: 178,024,197 (GRCm39) F396L probably damaging Het
Syne2 T C 12: 76,010,587 (GRCm39) L2499P probably damaging Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tab2 C T 10: 7,795,883 (GRCm39) V126I probably damaging Het
Tecpr1 T C 5: 144,148,317 (GRCm39) T363A probably damaging Het
Terb2 A G 2: 122,016,816 (GRCm39) D16G probably benign Het
Tm2d2 A G 8: 25,510,552 (GRCm39) E137G probably benign Het
Trim30d T A 7: 104,121,692 (GRCm39) H201L probably damaging Het
Tspan3 A G 9: 56,054,669 (GRCm39) probably null Het
Ttn A T 2: 76,617,667 (GRCm39) L16268Q probably damaging Het
Ttn A T 2: 76,626,529 (GRCm39) probably null Het
Ubap2 T A 4: 41,218,319 (GRCm39) T263S probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zeb2 A T 2: 44,886,138 (GRCm39) M973K possibly damaging Het
Zfp229 A G 17: 21,965,615 (GRCm39) E615G probably damaging Het
Zfp655 T A 5: 145,180,867 (GRCm39) S242T possibly damaging Het
Zfp788 T A 7: 41,297,705 (GRCm39) F62I possibly damaging Het
Zmynd8 A G 2: 165,629,078 (GRCm39) probably null 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
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
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'- AGAAGCAAAGTGACATCCACTCTGC -3'
(R):5'- AGGGAGCTGTAACTATCTCACCACC -3'

Sequencing Primer
(F):5'- TGCAGAAGACTGTAAACCCAAATG -3'
(R):5'- GAAGTTGACTACTACAGGAGGG -3'
Posted On 2013-07-11