Incidental Mutation 'IGL02868:Slc12a7'
ID362408
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 #IGL02868
Quality Score
Status
Chromosome13
Chromosomal Location73733094-73816754 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73806388 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 897 (M897K)
Ref Sequence ENSEMBL: ENSMUSP00000017900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900]
Predicted Effect probably benign
Transcript: ENSMUST00000017900
AA Change: M897K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: M897K

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 noncoding transcript
Transcript: ENSMUST00000220686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223454
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap4 A G X: 73,900,402 I224T probably benign Het
Atp12a A G 14: 56,384,182 D758G probably damaging Het
Clca3b C A 3: 144,827,564 G569V probably damaging Het
Dlgap4 G A 2: 156,700,896 R73Q probably damaging Het
Efcc1 C T 6: 87,751,761 probably benign Het
Eno3 T A 11: 70,662,000 V369E probably damaging Het
Espl1 T A 15: 102,313,990 C1022* probably null Het
Gm884 A T 11: 103,615,139 L2001H probably benign Het
Grhl3 T C 4: 135,554,604 D319G probably damaging Het
Huwe1 G A X: 151,908,833 R2538H possibly damaging Het
Ms4a4d T A 19: 11,550,282 I51N probably damaging Het
Mtmr9 T C 14: 63,524,139 N522S probably benign Het
Nfe2l1 A G 11: 96,820,140 I133T probably damaging Het
Ninl A G 2: 150,937,054 Y1296H probably benign Het
Nipal3 A G 4: 135,466,871 S284P probably damaging Het
Olfr1009 A T 2: 85,721,575 T57S probably benign Het
Olfr1286 A T 2: 111,420,493 F153I possibly damaging Het
Pramel5 G T 4: 144,271,352 N440K probably benign Het
Rabep1 T C 11: 70,874,746 V12A probably benign Het
Rbm5 G T 9: 107,749,700 probably benign Het
Ric3 T C 7: 109,054,419 E155G probably damaging Het
Slc39a8 G T 3: 135,856,026 A169S probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Synrg G A 11: 83,987,050 probably benign Het
Tas2r107 T C 6: 131,659,286 T267A probably benign Het
Tead3 G T 17: 28,333,095 Y354* probably null Het
Trim3 T C 7: 105,613,032 K579R possibly damaging Het
Uaca A T 9: 60,863,637 K362M probably damaging Het
Vmn2r94 A G 17: 18,244,054 I658T possibly damaging Het
Vps13b C T 15: 35,884,519 P3113S probably benign Het
Zfp251 A G 15: 76,854,534 S115P probably damaging Het
Zfp683 G A 4: 134,055,866 V214M probably benign 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
IGL02285:Slc12a7 APN 13 73795595 unclassified probably benign
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
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
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 On2015-12-18