Incidental Mutation 'R6693:Slc12a7'
ID 528182
Institutional Source Beutler Lab
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Name solute carrier family 12, member 7
Synonyms Kcc4
MMRRC Submission 044811-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6693 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73733094-73816754 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73797537 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 489 (A489S)
Ref Sequence ENSEMBL: ENSMUSP00000017900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]
AlphaFold Q9WVL3
Predicted Effect probably benign
Transcript: ENSMUST00000017900
AA Change: A489S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: A489S

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 99 113 N/A INTRINSIC
Pfam:AA_permease 123 308 1e-22 PFAM
low complexity region 390 407 N/A INTRINSIC
Pfam:AA_permease 410 696 1.5e-40 PFAM
Pfam:SLC12 708 834 4.6e-18 PFAM
Pfam:SLC12 818 1083 2.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220522
Predicted Effect probably benign
Transcript: ENSMUST00000220535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223008
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (37/37)
MGI Phenotype PHENOTYPE: Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,069,154 (GRCm38) V1368A probably benign Het
Aak1 C T 6: 86,965,515 (GRCm38) S680L unknown Het
Adam25 A T 8: 40,754,531 (GRCm38) N278I probably damaging Het
Adamtsl1 C A 4: 86,342,886 (GRCm38) H1111Q probably benign Het
Adgrg7 T A 16: 56,770,224 (GRCm38) N195Y probably damaging Het
Arhgap23 A G 11: 97,466,517 (GRCm38) N436S probably damaging Het
Cfap65 T C 1: 74,917,286 (GRCm38) I1045V probably benign Het
Chrm3 T C 13: 9,877,422 (GRCm38) N526S probably benign Het
Cpeb2 A T 5: 43,285,912 (GRCm38) D982V probably damaging Het
Fbxw27 T C 9: 109,788,044 (GRCm38) I130V probably benign Het
Glb1l T C 1: 75,209,101 (GRCm38) D61G probably damaging Het
Herc1 G A 9: 66,478,976 (GRCm38) C3737Y probably damaging Het
Kcnt2 A T 1: 140,351,227 (GRCm38) M39L probably benign Het
Kif17 C A 4: 138,286,480 (GRCm38) Q236K probably benign Het
Klhl25 T C 7: 75,866,813 (GRCm38) V184A possibly damaging Het
Lmf1 A T 17: 25,645,278 (GRCm38) M287L probably benign Het
Macf1 T C 4: 123,473,808 (GRCm38) T822A possibly damaging Het
Mmp13 A T 9: 7,280,245 (GRCm38) T392S probably benign Het
Myo6 T A 9: 80,245,731 (GRCm38) N215K probably damaging Het
Nedd1 T C 10: 92,698,337 (GRCm38) K317R possibly damaging Het
Or8g17 C T 9: 39,018,801 (GRCm38) A247T probably damaging Het
Or9m1 A G 2: 87,903,308 (GRCm38) Y123H probably damaging Het
Pax9 T A 12: 56,709,731 (GRCm38) S285T probably benign Het
Pcdhb15 A T 18: 37,474,341 (GRCm38) T209S probably benign Het
Pdpk1 A T 17: 24,111,126 (GRCm38) probably null Het
Rbak T C 5: 143,174,111 (GRCm38) K396E probably damaging Het
Rps6ka5 A G 12: 100,573,829 (GRCm38) V545A probably benign Het
Scg2 G T 1: 79,436,020 (GRCm38) Q329K probably benign Het
Shroom3 G A 5: 92,940,758 (GRCm38) A456T possibly damaging Het
Slc16a4 T C 3: 107,303,064 (GRCm38) I350T probably damaging Het
Slc25a45 T C 19: 5,880,134 (GRCm38) V44A possibly damaging Het
Sucla2 T A 14: 73,568,667 (GRCm38) L102* probably null Het
Tgif1 T A 17: 70,850,890 (GRCm38) probably benign Het
Tmem8b A G 4: 43,669,837 (GRCm38) E111G probably benign Het
Zfp971 G T 2: 178,033,431 (GRCm38) K274N probably benign Het
Other mutations in Slc12a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc12a7 APN 13 73,794,082 (GRCm38) missense possibly damaging 0.77
IGL01086:Slc12a7 APN 13 73,814,843 (GRCm38) missense probably damaging 1.00
IGL01344:Slc12a7 APN 13 73,792,737 (GRCm38) missense probably damaging 1.00
IGL01739:Slc12a7 APN 13 73,799,614 (GRCm38) missense probably benign 0.00
IGL02039:Slc12a7 APN 13 73,809,094 (GRCm38) critical splice donor site probably null
IGL02213:Slc12a7 APN 13 73,797,703 (GRCm38) critical splice donor site probably null
IGL02285:Slc12a7 APN 13 73,795,595 (GRCm38) unclassified probably benign
IGL02422:Slc12a7 APN 13 73,806,161 (GRCm38) missense probably benign 0.18
IGL02423:Slc12a7 APN 13 73,763,763 (GRCm38) utr 5 prime probably benign
IGL02596:Slc12a7 APN 13 73,785,123 (GRCm38) missense probably benign 0.01
IGL02794:Slc12a7 APN 13 73,809,087 (GRCm38) missense possibly damaging 0.68
IGL02813:Slc12a7 APN 13 73,813,676 (GRCm38) unclassified probably benign
IGL02868:Slc12a7 APN 13 73,806,388 (GRCm38) missense probably benign
R0828:Slc12a7 UTSW 13 73,788,652 (GRCm38) missense probably benign 0.03
R1440:Slc12a7 UTSW 13 73,801,008 (GRCm38) missense probably damaging 1.00
R1659:Slc12a7 UTSW 13 73,790,671 (GRCm38) missense probably damaging 1.00
R1669:Slc12a7 UTSW 13 73,795,113 (GRCm38) missense probably benign 0.00
R2111:Slc12a7 UTSW 13 73,785,155 (GRCm38) nonsense probably null
R3023:Slc12a7 UTSW 13 73,800,422 (GRCm38) missense probably benign 0.07
R3612:Slc12a7 UTSW 13 73,809,923 (GRCm38) missense probably benign 0.30
R4210:Slc12a7 UTSW 13 73,814,843 (GRCm38) missense probably damaging 1.00
R4353:Slc12a7 UTSW 13 73,790,734 (GRCm38) missense possibly damaging 0.63
R4761:Slc12a7 UTSW 13 73,813,589 (GRCm38) missense probably benign 0.06
R4801:Slc12a7 UTSW 13 73,763,892 (GRCm38) critical splice donor site probably null
R4802:Slc12a7 UTSW 13 73,763,892 (GRCm38) critical splice donor site probably null
R5002:Slc12a7 UTSW 13 73,763,777 (GRCm38) missense possibly damaging 0.66
R5128:Slc12a7 UTSW 13 73,805,433 (GRCm38) missense probably benign 0.03
R5594:Slc12a7 UTSW 13 73,785,139 (GRCm38) missense probably benign
R5760:Slc12a7 UTSW 13 73,813,622 (GRCm38) missense probably damaging 1.00
R5854:Slc12a7 UTSW 13 73,793,940 (GRCm38) missense probably benign 0.03
R6233:Slc12a7 UTSW 13 73,805,471 (GRCm38) missense possibly damaging 0.63
R6782:Slc12a7 UTSW 13 73,798,969 (GRCm38) missense probably damaging 0.99
R7169:Slc12a7 UTSW 13 73,784,560 (GRCm38) missense probably benign 0.30
R7225:Slc12a7 UTSW 13 73,763,962 (GRCm38) intron probably benign
R7458:Slc12a7 UTSW 13 73,785,069 (GRCm38) missense probably damaging 1.00
R7534:Slc12a7 UTSW 13 73,764,068 (GRCm38) intron probably benign
R7565:Slc12a7 UTSW 13 73,790,772 (GRCm38) missense possibly damaging 0.58
R7660:Slc12a7 UTSW 13 73,806,089 (GRCm38) missense probably benign
R7737:Slc12a7 UTSW 13 73,788,677 (GRCm38) missense probably benign 0.01
R7783:Slc12a7 UTSW 13 73,805,469 (GRCm38) missense probably benign 0.44
R7875:Slc12a7 UTSW 13 73,788,604 (GRCm38) missense possibly damaging 0.94
R8017:Slc12a7 UTSW 13 73,799,720 (GRCm38) missense probably damaging 1.00
R8019:Slc12a7 UTSW 13 73,799,720 (GRCm38) missense probably damaging 1.00
R8281:Slc12a7 UTSW 13 73,790,677 (GRCm38) missense probably damaging 1.00
R8342:Slc12a7 UTSW 13 73,785,162 (GRCm38) missense probably benign
R8747:Slc12a7 UTSW 13 73,785,122 (GRCm38) missense probably benign 0.30
R8920:Slc12a7 UTSW 13 73,798,449 (GRCm38) missense probably damaging 1.00
R9069:Slc12a7 UTSW 13 73,805,970 (GRCm38) intron probably benign
R9292:Slc12a7 UTSW 13 73,784,588 (GRCm38) missense possibly damaging 0.46
R9381:Slc12a7 UTSW 13 73,800,944 (GRCm38) missense probably benign 0.00
R9400:Slc12a7 UTSW 13 73,784,570 (GRCm38) missense probably benign 0.00
R9521:Slc12a7 UTSW 13 73,798,968 (GRCm38) missense probably benign 0.38
R9687:Slc12a7 UTSW 13 73,790,677 (GRCm38) missense probably damaging 1.00
X0023:Slc12a7 UTSW 13 73,788,608 (GRCm38) missense possibly damaging 0.94
X0028:Slc12a7 UTSW 13 73,798,541 (GRCm38) splice site probably null
X0065:Slc12a7 UTSW 13 73,800,945 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGAACAGTTTCAAGCCACCTAAG -3'
(R):5'- TTCATCTGCTGCACCTTGAG -3'

Sequencing Primer
(F):5'- AGCCACCTAAGCCCTTTCTGAG -3'
(R):5'- TGAGTGAAGGACTCACCT -3'
Posted On 2018-07-24