Incidental Mutation 'R0240:Slc26a7'
ID 59291
Institutional Source Beutler Lab
Gene Symbol Slc26a7
Ensembl Gene ENSMUSG00000040569
Gene Name solute carrier family 26, member 7
Synonyms
MMRRC Submission 038478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R0240 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 14502430-14621805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 14532651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 408 (V408F)
Ref Sequence ENSEMBL: ENSMUSP00000041789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042221]
AlphaFold Q8R2Z3
Predicted Effect probably damaging
Transcript: ENSMUST00000042221
AA Change: V408F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: V408F

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 0.4908 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (112/112)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,506,920 (GRCm39) L71P probably damaging Het
Adamts2 A T 11: 50,666,201 (GRCm39) D399V probably damaging Het
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Alg11 T A 8: 22,555,468 (GRCm39) V243D possibly damaging Het
Ankrd27 T A 7: 35,318,864 (GRCm39) L585Q probably damaging Het
Armh4 A G 14: 50,005,859 (GRCm39) probably benign Het
Atp7a T A X: 105,153,447 (GRCm39) N1117K probably damaging Het
Bltp3a T A 17: 28,114,844 (GRCm39) probably benign Het
Cacna1b G A 2: 24,528,669 (GRCm39) probably benign Het
Cacna1d T A 14: 29,818,926 (GRCm39) M1210L probably benign Het
Cacna1s T C 1: 136,001,234 (GRCm39) probably benign Het
Chd7 T C 4: 8,852,670 (GRCm39) probably benign Het
Col12a1 A T 9: 79,559,315 (GRCm39) S1858T probably benign Het
Cotl1 C T 8: 120,567,063 (GRCm39) W26* probably null Het
Csmd3 T C 15: 47,492,635 (GRCm39) T3000A probably benign Het
Dcp1a T A 14: 30,206,551 (GRCm39) probably benign Het
Ddhd2 A T 8: 26,229,617 (GRCm39) probably null Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Dnm3 G T 1: 162,181,194 (GRCm39) Q162K probably benign Het
Dpy19l2 G T 9: 24,569,876 (GRCm39) A359D probably damaging Het
Ece1 T A 4: 137,676,746 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,897,873 (GRCm39) K1025R probably damaging Het
Eml2 C A 7: 18,918,797 (GRCm39) Y82* probably null Het
Eml6 A G 11: 29,742,367 (GRCm39) V1057A possibly damaging Het
Eral1 A G 11: 77,966,884 (GRCm39) probably benign Het
Espl1 T C 15: 102,220,976 (GRCm39) S911P probably benign Het
Fbxo8 A G 8: 57,043,296 (GRCm39) probably benign Het
Flrt1 A T 19: 7,074,475 (GRCm39) probably benign Het
Fndc7 A G 3: 108,766,235 (GRCm39) probably benign Het
G3bp1 G A 11: 55,382,854 (GRCm39) G139D probably damaging Het
Gabra6 C T 11: 42,205,774 (GRCm39) V351I probably benign Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Ganab A G 19: 8,890,177 (GRCm39) D702G possibly damaging Het
Hdac10 T C 15: 89,010,085 (GRCm39) E291G possibly damaging Het
Hectd3 T G 4: 116,859,810 (GRCm39) V749G probably damaging Het
Kash5 C T 7: 44,849,675 (GRCm39) A83T probably benign Het
Kcnh1 T A 1: 192,187,648 (GRCm39) I703N probably benign Het
Kcnma1 G A 14: 23,544,647 (GRCm39) T505I probably damaging Het
Kctd11 A G 11: 69,770,640 (GRCm39) C133R probably damaging Het
Lama3 A T 18: 12,672,880 (GRCm39) probably null Het
Lamb3 T C 1: 193,017,335 (GRCm39) L842P probably damaging Het
Ldlr T C 9: 21,649,295 (GRCm39) probably benign Het
Lipk G A 19: 34,024,210 (GRCm39) R336H probably benign Het
Lrrc24 T A 15: 76,607,409 (GRCm39) D58V probably damaging Het
Lrsam1 A G 2: 32,845,197 (GRCm39) L106P probably damaging Het
Milr1 G A 11: 106,645,722 (GRCm39) W88* probably null Het
Mmp10 A G 9: 7,506,544 (GRCm39) D340G probably damaging Het
Mybpc1 T A 10: 88,391,600 (GRCm39) Y285F possibly damaging Het
Ncoa3 A G 2: 165,896,320 (GRCm39) T408A probably benign Het
Nefm T A 14: 68,358,583 (GRCm39) K484* probably null Het
Nfasc A G 1: 132,529,721 (GRCm39) S814P probably damaging Het
Nlrp4a T C 7: 26,161,941 (GRCm39) V863A probably benign Het
Nos1 C T 5: 118,005,948 (GRCm39) P223S probably benign Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Or13c7 T A 4: 43,854,512 (GRCm39) S68T probably damaging Het
Or4c108 A T 2: 88,803,740 (GRCm39) L165Q probably damaging Het
Or5an6 A T 19: 12,372,327 (GRCm39) E233D probably benign Het
Or8k41 A G 2: 86,313,730 (GRCm39) S119P possibly damaging Het
Osbpl5 T C 7: 143,295,406 (GRCm39) probably null Het
Otog C A 7: 45,913,456 (GRCm39) probably null Het
Pacs1 A T 19: 5,206,402 (GRCm39) I261N possibly damaging Het
Pbx1 G A 1: 168,031,051 (GRCm39) T189I possibly damaging Het
Pcnx1 T C 12: 81,993,792 (GRCm39) I908T possibly damaging Het
Pdxdc1 A T 16: 13,697,309 (GRCm39) W124R probably damaging Het
Phex C A X: 155,969,214 (GRCm39) D587Y probably damaging Het
Plcb3 A T 19: 6,940,363 (GRCm39) D435E probably benign Het
Plce1 A C 19: 38,717,330 (GRCm39) K1373T probably damaging Het
Prkcd G A 14: 30,324,045 (GRCm39) A311V probably damaging Het
Ptpn3 A T 4: 57,232,374 (GRCm39) S421T probably benign Het
Ptprs T C 17: 56,743,087 (GRCm39) probably null Het
Qrich1 A G 9: 108,411,333 (GRCm39) D286G probably damaging Het
Rcc1 C A 4: 132,060,226 (GRCm39) G393V probably damaging Het
Reln T C 5: 22,311,043 (GRCm39) N290S probably benign Het
Rgl1 T C 1: 152,430,175 (GRCm39) probably benign Het
Rhpn1 C T 15: 75,585,971 (GRCm39) T628I probably benign Het
Rilp A G 11: 75,401,747 (GRCm39) R176G probably benign Het
Riok3 C T 18: 12,288,284 (GRCm39) A487V probably benign Het
Rnf224 T C 2: 25,126,219 (GRCm39) T45A probably damaging Het
Rpa1 A G 11: 75,219,513 (GRCm39) V137A probably benign Het
Rps6ka1 C A 4: 133,575,842 (GRCm39) Q693H probably benign Het
Scn2a G T 2: 65,566,118 (GRCm39) V1381F probably benign Het
Scp2 T A 4: 107,955,275 (GRCm39) H112L probably benign Het
Sdk1 T C 5: 141,984,502 (GRCm39) W696R probably damaging Het
Slc28a2 T A 2: 122,285,008 (GRCm39) I332N probably benign Het
Slc37a3 A G 6: 39,314,172 (GRCm39) V480A probably benign Het
Slc45a4 T A 15: 73,453,755 (GRCm39) E674D probably benign Het
Smpd3 T C 8: 106,991,788 (GRCm39) E255G probably damaging Het
Snx29 C T 16: 11,478,417 (GRCm39) R658W probably damaging Het
Sppl2a A T 2: 126,762,256 (GRCm39) M275K probably benign Het
Stac T C 9: 111,464,089 (GRCm39) N59S probably damaging Het
Stk25 A T 1: 93,554,782 (GRCm39) L131Q probably damaging Het
Tep1 C T 14: 51,100,486 (GRCm39) probably benign Het
Thbs1 C A 2: 117,944,874 (GRCm39) N229K probably damaging Het
Tmx2 A T 2: 84,506,186 (GRCm39) H89Q probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tradd T C 8: 105,985,924 (GRCm39) N209S possibly damaging Het
Trappc3l A T 10: 33,974,928 (GRCm39) R119* probably null Het
Trmt1l G A 1: 151,333,205 (GRCm39) probably benign Het
Ublcp1 G T 11: 44,349,104 (GRCm39) Y243* probably null Het
Usp24 C A 4: 106,271,601 (GRCm39) C2158* probably null Het
Usp34 A T 11: 23,383,206 (GRCm39) K2088N probably damaging Het
Vmn1r53 G C 6: 90,200,925 (GRCm39) S133C probably damaging Het
Vmn2r52 A G 7: 9,893,327 (GRCm39) V604A probably damaging Het
Vmn2r93 A G 17: 18,525,061 (GRCm39) K240E probably benign Het
Wdr13 T G X: 7,994,284 (GRCm39) D242A probably damaging Het
Wwp1 C T 4: 19,641,734 (GRCm39) probably null Het
Zan G A 5: 137,396,624 (GRCm39) H4311Y unknown Het
Zc3h12c C A 9: 52,055,383 (GRCm39) R123L possibly damaging Het
Zfp125 A T 12: 20,950,562 (GRCm39) noncoding transcript Het
Zfp318 C T 17: 46,707,739 (GRCm39) P266S 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
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
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'- CTCAAATGGTTAAGCGTATTTCCTGCC -3'
(R):5'- GGGACTTAGCACTAGTACCTGTGCTTC -3'

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