Incidental Mutation 'IGL02285:Slc12a7'
ID289977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Namesolute carrier family 12, member 7
SynonymsKcc4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02285
Quality Score
Status
Chromosome13
Chromosomal Location73733094-73816754 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 73795595 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]
Predicted Effect probably benign
Transcript: ENSMUST00000017900
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

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: ENSMUST00000221196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223008
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,350,877 V672A possibly damaging Het
Arhgef28 A T 13: 98,051,028 V253D possibly damaging Het
Atg3 G A 16: 45,178,317 probably benign Het
Camsap1 T C 2: 25,929,802 D1557G probably damaging Het
Cdh7 A G 1: 110,138,191 T732A probably damaging Het
Col4a3bp A G 13: 96,616,482 H348R probably benign Het
Cyp3a13 T A 5: 137,909,967 I207F probably benign Het
Dock1 T G 7: 135,081,920 probably null Het
Drc7 A T 8: 95,071,233 probably benign Het
Drosha C A 15: 12,833,864 P18H unknown Het
Fbxl5 A G 5: 43,765,348 S243P possibly damaging Het
Filip1 A G 9: 79,820,126 C404R probably damaging Het
Gm1840 C T 8: 5,640,373 noncoding transcript Het
Gm5745 G A 9: 73,175,498 noncoding transcript Het
Gm7808 T G 9: 19,928,051 probably benign Het
Hcn3 T C 3: 89,152,812 D175G probably damaging Het
Igkv1-117 A T 6: 68,121,535 M23L probably benign Het
Kif26a A G 12: 112,157,507 D182G probably damaging Het
Lmbr1 A G 5: 29,254,235 probably benign Het
Lypd4 T A 7: 24,865,440 Q91L probably damaging Het
Ncoa5 C T 2: 165,002,840 A37T probably damaging Het
Olfr600 G A 7: 103,346,038 R297* probably null Het
Olfr657 A G 7: 104,635,725 E17G probably benign Het
Olfr829 T A 9: 18,856,990 C122S possibly damaging Het
Ppp1r18 A G 17: 35,867,256 K8E probably damaging Het
Ppp3ca A G 3: 136,928,626 probably benign Het
Ptpn12 T A 5: 21,055,713 Q12L probably benign Het
Rpgrip1l A G 8: 91,232,907 F1122L possibly damaging Het
Rps15 G T 10: 80,293,762 M43I probably benign Het
Rrp15 T C 1: 186,721,395 probably benign Het
Sash1 A T 10: 8,740,334 M588K probably damaging Het
Slc25a13 A G 6: 6,042,643 V587A possibly damaging Het
Sugct T C 13: 17,672,596 D34G possibly damaging Het
Tdpoz2 T A 3: 93,652,291 I125F probably damaging Het
Trim52 T A 14: 106,107,268 L120Q probably damaging Het
Vmn1r85 T C 7: 13,084,784 I144M probably damaging Het
Vmn2r107 T C 17: 20,375,561 F792S probably damaging Het
Vsnl1 A G 12: 11,386,877 F34L probably damaging Het
Other mutations in Slc12a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc12a7 APN 13 73794082 missense possibly damaging 0.77
IGL01086:Slc12a7 APN 13 73814843 missense probably damaging 1.00
IGL01344:Slc12a7 APN 13 73792737 missense probably damaging 1.00
IGL01739:Slc12a7 APN 13 73799614 missense probably benign 0.00
IGL02039:Slc12a7 APN 13 73809094 critical splice donor site probably null
IGL02213:Slc12a7 APN 13 73797703 critical splice donor site probably null
IGL02422:Slc12a7 APN 13 73806161 missense probably benign 0.18
IGL02423:Slc12a7 APN 13 73763763 utr 5 prime probably benign
IGL02596:Slc12a7 APN 13 73785123 missense probably benign 0.01
IGL02794:Slc12a7 APN 13 73809087 missense possibly damaging 0.68
IGL02813:Slc12a7 APN 13 73813676 unclassified probably benign
IGL02868:Slc12a7 APN 13 73806388 missense probably benign
R0828:Slc12a7 UTSW 13 73788652 missense probably benign 0.03
R1440:Slc12a7 UTSW 13 73801008 missense probably damaging 1.00
R1659:Slc12a7 UTSW 13 73790671 missense probably damaging 1.00
R1669:Slc12a7 UTSW 13 73795113 missense probably benign 0.00
R2111:Slc12a7 UTSW 13 73785155 nonsense probably null
R3023:Slc12a7 UTSW 13 73800422 missense probably benign 0.07
R3612:Slc12a7 UTSW 13 73809923 missense probably benign 0.30
R4210:Slc12a7 UTSW 13 73814843 missense probably damaging 1.00
R4353:Slc12a7 UTSW 13 73790734 missense possibly damaging 0.63
R4761:Slc12a7 UTSW 13 73813589 missense probably benign 0.06
R4801:Slc12a7 UTSW 13 73763892 critical splice donor site probably null
R4802:Slc12a7 UTSW 13 73763892 critical splice donor site probably null
R5002:Slc12a7 UTSW 13 73763777 missense possibly damaging 0.66
R5128:Slc12a7 UTSW 13 73805433 missense probably benign 0.03
R5594:Slc12a7 UTSW 13 73785139 missense probably benign
R5760:Slc12a7 UTSW 13 73813622 missense probably damaging 1.00
R5854:Slc12a7 UTSW 13 73793940 missense probably benign 0.03
R6233:Slc12a7 UTSW 13 73805471 missense possibly damaging 0.63
R6693:Slc12a7 UTSW 13 73797537 missense probably benign 0.00
R6782:Slc12a7 UTSW 13 73798969 missense probably damaging 0.99
R7169:Slc12a7 UTSW 13 73784560 missense probably benign 0.30
R7225:Slc12a7 UTSW 13 73763962 intron probably benign
R7458:Slc12a7 UTSW 13 73785069 missense probably damaging 1.00
R7534:Slc12a7 UTSW 13 73764068 intron probably benign
R7565:Slc12a7 UTSW 13 73790772 missense possibly damaging 0.58
R7660:Slc12a7 UTSW 13 73806089 missense probably benign
R7737:Slc12a7 UTSW 13 73788677 missense probably benign 0.01
R7783:Slc12a7 UTSW 13 73805469 missense probably benign 0.44
R7875:Slc12a7 UTSW 13 73788604 missense possibly damaging 0.94
R7958:Slc12a7 UTSW 13 73788604 missense possibly damaging 0.94
R8017:Slc12a7 UTSW 13 73799720 missense probably damaging 1.00
R8019:Slc12a7 UTSW 13 73799720 missense probably damaging 1.00
X0023:Slc12a7 UTSW 13 73788608 missense possibly damaging 0.94
X0028:Slc12a7 UTSW 13 73798541 splice site probably null
X0065:Slc12a7 UTSW 13 73800945 missense probably benign 0.02
Posted On2015-04-16