Incidental Mutation 'R1659:Slc12a7'
ID 186616
Institutional Source Beutler Lab
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Name solute carrier family 12, member 7
Synonyms Kcc4
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73881213-73964873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73938790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 189 (I189N)
Ref Sequence ENSEMBL: ENSMUSP00000017900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]
AlphaFold Q9WVL3
Predicted Effect probably damaging
Transcript: ENSMUST00000017900
AA Change: I189N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: I189N

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A possibly damaging 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
IGL02596:Slc12a7 APN 13 73,933,242 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TGTATCAGGCAGTTCTCATCACGC -3'
(R):5'- ACATGCCTCCTGAGATAGCACAGAC -3'

Sequencing Primer
(F):5'- TACCAGTAGGCAGGCTAGACC -3'
(R):5'- TCAGCCTAGACAGGAGCTTTG -3'
Posted On 2014-05-09