Incidental Mutation 'R7225:Slc12a7'
ID 574658
Institutional Source Beutler Lab
Gene Symbol Slc12a7
Ensembl Gene ENSMUSG00000017756
Gene Name solute carrier family 12, member 7
Synonyms Kcc4
MMRRC Submission 045297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73881213-73964873 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 73912081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]
AlphaFold Q9WVL3
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 unknown
Transcript: ENSMUST00000220535
AA Change: T66A
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Actn4 A T 7: 28,598,124 (GRCm39) V492D probably damaging Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Mertk T G 2: 128,643,482 (GRCm39) N960K possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Shank2 T A 7: 143,838,762 (GRCm39) N19K probably benign Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Tshz3 A G 7: 36,469,082 (GRCm39) N357S probably damaging Het
Txk C T 5: 72,858,057 (GRCm39) D418N probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D probably benign 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
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
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'- CATGCCCACGAACTTTACG -3'
(R):5'- CCAACAGGGAGATATGCAGC -3'

Sequencing Primer
(F):5'- CACGAACTTTACGGTGGTGC -3'
(R):5'- GCGCCTCAAGCAAGGAG -3'
Posted On 2019-09-27