Incidental Mutation 'R5854:Slc12a7'
ID 454835
Institutional Source Beutler Lab
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Name solute carrier family 12, member 7
Synonyms Kcc4
MMRRC Submission 043228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5854 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73881213-73964873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73942059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 312 (N312D)
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: N312D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: N312D

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atg4c G A 4: 99,116,796 (GRCm39) V313I probably benign Het
Ccdc18 A G 5: 108,354,594 (GRCm39) E1111G possibly damaging Het
Chuk T C 19: 44,070,396 (GRCm39) H573R probably benign Het
Cst13 A G 2: 148,670,094 (GRCm39) N88S probably benign Het
Dalrd3 T C 9: 108,447,276 (GRCm39) probably null Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dsp A G 13: 38,351,477 (GRCm39) probably null Het
Fbxo41 A G 6: 85,452,076 (GRCm39) L810P probably damaging Het
Fcrlb T C 1: 170,735,530 (GRCm39) Y248C probably damaging Het
Gmcl1 A G 6: 86,691,241 (GRCm39) silent Het
Gtf3c3 C A 1: 54,458,596 (GRCm39) A442S probably benign Het
Hdac4 T C 1: 91,887,143 (GRCm39) S799G probably damaging Het
Hnrnpa2b1 C G 6: 51,443,589 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,495,508 (GRCm39) E177G probably damaging Het
Knl1 A G 2: 118,900,884 (GRCm39) I862V probably benign Het
Lonp2 T A 8: 87,399,699 (GRCm39) probably null Het
Map3k19 G T 1: 127,758,092 (GRCm39) P363T probably damaging Het
Morn3 A G 5: 123,179,178 (GRCm39) Y91H probably damaging Het
Myom2 A G 8: 15,158,478 (GRCm39) D810G probably benign Het
Nans A G 4: 46,500,180 (GRCm39) Y188C probably damaging Het
Ndufs1 A T 1: 63,186,548 (GRCm39) D1E probably benign Het
Nelfb T C 2: 25,100,005 (GRCm39) N204S probably damaging Het
Noxo1 T C 17: 24,917,516 (GRCm39) S31P probably damaging Het
Or13a20 A G 7: 140,232,491 (GRCm39) M200V probably benign Het
Or5af1 T A 11: 58,722,382 (GRCm39) M134K probably damaging Het
Or8b50 T C 9: 38,517,959 (GRCm39) L66S probably damaging Het
Pkd1l2 T G 8: 117,792,485 (GRCm39) T436P possibly damaging Het
Pkhd1l1 A G 15: 44,445,186 (GRCm39) D3686G probably damaging Het
Ppp2r5b A G 19: 6,280,974 (GRCm39) L285S probably damaging Het
Pzp A T 6: 128,483,832 (GRCm39) V522D probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rpe65 A G 3: 159,321,313 (GRCm39) D375G probably benign Het
Sacs C T 14: 61,448,996 (GRCm39) L3681F probably damaging Het
Sft2d1 C T 17: 8,539,485 (GRCm39) T96I probably damaging Het
Spaca6 A T 17: 18,051,509 (GRCm39) K82* probably null Het
Stk32c A G 7: 138,768,195 (GRCm39) probably benign Het
Tet2 T A 3: 133,193,646 (GRCm39) N263Y probably damaging Het
Uxs1 T C 1: 43,819,233 (GRCm39) N190S probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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
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'- ACCTTCCAGAGTAAGTTGCCC -3'
(R):5'- GGATGCCCTGTATCTCAGTAAC -3'

Sequencing Primer
(F):5'- AGATCAGTCTTCAAGCTGCTGGAC -3'
(R):5'- CTCAGTAACGTTGTTCTGTGCAAAG -3'
Posted On 2017-02-10