Incidental Mutation 'R0833:Slc26a7'
ID 77619
Institutional Source Beutler Lab
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Name solute carrier family 26, member 7
Synonyms
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 14502430-14621805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14593873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 81 (Y81N)
Ref Sequence ENSEMBL: ENSMUSP00000116157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042221] [ENSMUST00000143105] [ENSMUST00000149633]
AlphaFold Q8R2Z3
Predicted Effect probably damaging
Transcript: ENSMUST00000042221
AA Change: Y81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: Y81N

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 damaging
Transcript: ENSMUST00000143105
AA Change: Y81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122870
Gene: ENSMUSG00000040569
AA Change: Y81N

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 32 99 7.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149633
AA Change: Y81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116157
Gene: ENSMUSG00000040569
AA Change: Y81N

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 32 115 9.9e-28 PFAM
transmembrane domain 145 167 N/A INTRINSIC
Meta Mutation Damage Score 0.8732 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tgm3 C T 2: 129,868,602 (GRCm39) probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) 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
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'- TCATAGGGCATAGATAAGCACCCCTC -3'
(R):5'- AGTGGGTGAGCAATTTCCTCCCAG -3'

Sequencing Primer
(F):5'- ACCCCTCACATCCCTCAGTG -3'
(R):5'- GCACATCAATAACTGTTGTTTTGGG -3'
Posted On 2013-10-16