Incidental Mutation 'IGL02596:Slc12a7'
ID 299870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Name solute carrier family 12, member 7
Synonyms Kcc4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02596
Quality Score
Status
Chromosome 13
Chromosomal Location 73881213-73964873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73933242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 100 (V100E)
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: V100E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V100E

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,868,904 (GRCm39) Q11H possibly damaging Het
Armcx5 T A X: 134,647,268 (GRCm39) I448K probably damaging Het
Atp4b T A 8: 13,443,471 (GRCm39) Y69F possibly damaging Het
Ccdc7b T A 8: 129,798,959 (GRCm39) V12E probably benign Het
Cdc5l C A 17: 45,735,530 (GRCm39) probably benign Het
Clptm1l C T 13: 73,761,785 (GRCm39) R330C probably benign Het
Cpq C T 15: 33,213,160 (GRCm39) R60W probably damaging Het
Cpvl T C 6: 53,908,995 (GRCm39) Y256C probably damaging Het
Cryzl2 A T 1: 157,292,539 (GRCm39) D107V probably damaging Het
Cyp2e1 G A 7: 140,350,031 (GRCm39) V239M probably damaging Het
Cyp2j7 T A 4: 96,103,659 (GRCm39) D292V possibly damaging Het
Dcaf1 A G 9: 106,740,220 (GRCm39) Y1202C probably damaging Het
Dnah3 T C 7: 119,538,137 (GRCm39) N3616S probably benign Het
Enam A G 5: 88,650,885 (GRCm39) D723G probably benign Het
Eps8l1 G A 7: 4,473,871 (GRCm39) R226H probably damaging Het
Erich2 A G 2: 70,343,147 (GRCm39) probably benign Het
Esyt3 A C 9: 99,210,068 (GRCm39) L271V probably benign Het
Fer1l4 T C 2: 155,881,052 (GRCm39) N838S probably benign Het
Gad1 T C 2: 70,425,028 (GRCm39) Y441H probably damaging Het
Gja1 G T 10: 56,264,348 (GRCm39) V236F possibly damaging Het
Gpr156 T C 16: 37,799,086 (GRCm39) I100T probably benign Het
Hace1 A G 10: 45,576,736 (GRCm39) T803A possibly damaging Het
Jagn1 G A 6: 113,424,562 (GRCm39) V145I probably benign Het
Kdm4b C A 17: 56,706,706 (GRCm39) T899K probably benign Het
Klk1b8 G A 7: 43,602,187 (GRCm39) V40M probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mast1 G T 8: 85,644,400 (GRCm39) A843E probably benign Het
Mbd1 T A 18: 74,409,868 (GRCm39) probably benign Het
Mdga1 A G 17: 30,051,379 (GRCm39) probably benign Het
Mlh3 A G 12: 85,287,732 (GRCm39) probably null Het
Or10ag53 C A 2: 87,082,473 (GRCm39) T64K probably damaging Het
Or5b109 A T 19: 13,211,763 (GRCm39) I50F probably damaging Het
Pwp1 A G 10: 85,707,882 (GRCm39) probably null Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,723,083 (GRCm39) H699L probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tgfb1i1 T A 7: 127,848,068 (GRCm39) M1K probably null Het
Tubgcp6 T A 15: 88,985,117 (GRCm39) E1657V probably damaging Het
Zfp770 A G 2: 114,026,308 (GRCm39) V587A probably benign Het
Zxdc A G 6: 90,350,691 (GRCm39) probably null Het
Other mutations in Slc12a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc12a7 APN 13 73,942,201 (GRCm39) missense possibly damaging 0.77
IGL01086:Slc12a7 APN 13 73,962,962 (GRCm39) missense probably damaging 1.00
IGL01344:Slc12a7 APN 13 73,940,856 (GRCm39) missense probably damaging 1.00
IGL01739:Slc12a7 APN 13 73,947,733 (GRCm39) missense probably benign 0.00
IGL02039:Slc12a7 APN 13 73,957,213 (GRCm39) critical splice donor site probably null
IGL02213:Slc12a7 APN 13 73,945,822 (GRCm39) critical splice donor site probably null
IGL02285:Slc12a7 APN 13 73,943,714 (GRCm39) unclassified probably benign
IGL02422:Slc12a7 APN 13 73,954,280 (GRCm39) missense probably benign 0.18
IGL02423:Slc12a7 APN 13 73,911,882 (GRCm39) utr 5 prime probably benign
IGL02794:Slc12a7 APN 13 73,957,206 (GRCm39) missense possibly damaging 0.68
IGL02813:Slc12a7 APN 13 73,961,795 (GRCm39) unclassified probably benign
IGL02868:Slc12a7 APN 13 73,954,507 (GRCm39) missense probably benign
R0828:Slc12a7 UTSW 13 73,936,771 (GRCm39) missense probably benign 0.03
R1440:Slc12a7 UTSW 13 73,949,127 (GRCm39) missense probably damaging 1.00
R1659:Slc12a7 UTSW 13 73,938,790 (GRCm39) missense probably damaging 1.00
R1669:Slc12a7 UTSW 13 73,943,232 (GRCm39) missense probably benign 0.00
R2111:Slc12a7 UTSW 13 73,933,274 (GRCm39) nonsense probably null
R3023:Slc12a7 UTSW 13 73,948,541 (GRCm39) missense probably benign 0.07
R3612:Slc12a7 UTSW 13 73,958,042 (GRCm39) missense probably benign 0.30
R4210:Slc12a7 UTSW 13 73,962,962 (GRCm39) missense probably damaging 1.00
R4353:Slc12a7 UTSW 13 73,938,853 (GRCm39) missense possibly damaging 0.63
R4761:Slc12a7 UTSW 13 73,961,708 (GRCm39) missense probably benign 0.06
R4801:Slc12a7 UTSW 13 73,912,011 (GRCm39) critical splice donor site probably null
R4802:Slc12a7 UTSW 13 73,912,011 (GRCm39) critical splice donor site probably null
R5002:Slc12a7 UTSW 13 73,911,896 (GRCm39) missense possibly damaging 0.66
R5128:Slc12a7 UTSW 13 73,953,552 (GRCm39) missense probably benign 0.03
R5594:Slc12a7 UTSW 13 73,933,258 (GRCm39) missense probably benign
R5760:Slc12a7 UTSW 13 73,961,741 (GRCm39) missense probably damaging 1.00
R5854:Slc12a7 UTSW 13 73,942,059 (GRCm39) missense probably benign 0.03
R6233:Slc12a7 UTSW 13 73,953,590 (GRCm39) missense possibly damaging 0.63
R6693:Slc12a7 UTSW 13 73,945,656 (GRCm39) missense probably benign 0.00
R6782:Slc12a7 UTSW 13 73,947,088 (GRCm39) missense probably damaging 0.99
R7169:Slc12a7 UTSW 13 73,932,679 (GRCm39) missense probably benign 0.30
R7225:Slc12a7 UTSW 13 73,912,081 (GRCm39) intron probably benign
R7458:Slc12a7 UTSW 13 73,933,188 (GRCm39) missense probably damaging 1.00
R7534:Slc12a7 UTSW 13 73,912,187 (GRCm39) intron probably benign
R7565:Slc12a7 UTSW 13 73,938,891 (GRCm39) missense possibly damaging 0.58
R7660:Slc12a7 UTSW 13 73,954,208 (GRCm39) missense probably benign
R7737:Slc12a7 UTSW 13 73,936,796 (GRCm39) missense probably benign 0.01
R7783:Slc12a7 UTSW 13 73,953,588 (GRCm39) missense probably benign 0.44
R7875:Slc12a7 UTSW 13 73,936,723 (GRCm39) missense possibly damaging 0.94
R8017:Slc12a7 UTSW 13 73,947,839 (GRCm39) missense probably damaging 1.00
R8019:Slc12a7 UTSW 13 73,947,839 (GRCm39) missense probably damaging 1.00
R8281:Slc12a7 UTSW 13 73,938,796 (GRCm39) missense probably damaging 1.00
R8342:Slc12a7 UTSW 13 73,933,281 (GRCm39) missense probably benign
R8747:Slc12a7 UTSW 13 73,933,241 (GRCm39) missense probably benign 0.30
R8920:Slc12a7 UTSW 13 73,946,568 (GRCm39) missense probably damaging 1.00
R9069:Slc12a7 UTSW 13 73,954,089 (GRCm39) intron probably benign
R9292:Slc12a7 UTSW 13 73,932,707 (GRCm39) missense possibly damaging 0.46
R9381:Slc12a7 UTSW 13 73,949,063 (GRCm39) missense probably benign 0.00
R9400:Slc12a7 UTSW 13 73,932,689 (GRCm39) missense probably benign 0.00
R9521:Slc12a7 UTSW 13 73,947,087 (GRCm39) missense probably benign 0.38
R9687:Slc12a7 UTSW 13 73,938,796 (GRCm39) missense probably damaging 1.00
X0023:Slc12a7 UTSW 13 73,936,727 (GRCm39) missense possibly damaging 0.94
X0028:Slc12a7 UTSW 13 73,946,660 (GRCm39) splice site probably null
X0065:Slc12a7 UTSW 13 73,949,064 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16