Incidental Mutation 'R0033:Slc12a4'
ID 64553
Institutional Source Beutler Lab
Gene Symbol Slc12a4
Ensembl Gene ENSMUSG00000017765
Gene Name solute carrier family 12, member 4
Synonyms K-Cl Co-transporter-1, KCC1
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R0033 (G1)
Quality Score 103
Status Validated
Chromosome 8
Chromosomal Location 106670222-106692729 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 106674111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034370] [ENSMUST00000038896] [ENSMUST00000116429]
AlphaFold Q9JIS8
Predicted Effect probably benign
Transcript: ENSMUST00000034370
SMART Domains Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
Pfam:AA_permease 125 318 5.8e-28 PFAM
Pfam:AA_permease 409 698 1.2e-40 PFAM
Pfam:SLC12 710 833 7.1e-18 PFAM
Pfam:SLC12 829 1087 4.8e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038896
SMART Domains Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:LCAT 81 414 1.7e-111 PFAM
low complexity region 425 437 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116429
SMART Domains Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 95 115 N/A INTRINSIC
Pfam:AA_permease 123 309 7.7e-29 PFAM
Pfam:AA_permease_2 390 654 2.9e-17 PFAM
Pfam:AA_permease 404 696 4.4e-39 PFAM
Pfam:KCl_Cotrans_1 953 982 9.2e-21 PFAM
low complexity region 1065 1080 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183884
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a constitutively active mutation display microcytosis and hypochromic anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Klc4 A T 17: 46,946,359 (GRCm39) C489S probably damaging Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly damaging Het
Other mutations in Slc12a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Slc12a4 APN 8 106,670,721 (GRCm39) missense probably damaging 1.00
IGL01637:Slc12a4 APN 8 106,687,339 (GRCm39) missense possibly damaging 0.72
IGL01736:Slc12a4 APN 8 106,672,475 (GRCm39) critical splice donor site probably null
IGL01804:Slc12a4 APN 8 106,671,033 (GRCm39) missense probably damaging 1.00
IGL02000:Slc12a4 APN 8 106,671,864 (GRCm39) missense probably damaging 1.00
IGL02526:Slc12a4 APN 8 106,676,438 (GRCm39) missense possibly damaging 0.90
IGL03371:Slc12a4 APN 8 106,677,137 (GRCm39) missense probably null 0.99
IGL03385:Slc12a4 APN 8 106,677,496 (GRCm39) unclassified probably benign
ablution UTSW 8 106,671,855 (GRCm39) missense probably damaging 1.00
custom UTSW 8 106,677,468 (GRCm39) missense probably benign 0.00
Custom2 UTSW 8 106,671,876 (GRCm39) critical splice acceptor site probably null
custom3 UTSW 8 106,676,371 (GRCm39) missense probably damaging 1.00
PIT4810001:Slc12a4 UTSW 8 106,678,228 (GRCm39) missense probably benign 0.00
R0200:Slc12a4 UTSW 8 106,678,249 (GRCm39) missense probably benign 0.09
R0201:Slc12a4 UTSW 8 106,671,982 (GRCm39) missense possibly damaging 0.79
R0270:Slc12a4 UTSW 8 106,672,021 (GRCm39) missense probably benign 0.10
R0389:Slc12a4 UTSW 8 106,678,599 (GRCm39) missense probably benign 0.00
R0432:Slc12a4 UTSW 8 106,686,120 (GRCm39) missense probably damaging 1.00
R0751:Slc12a4 UTSW 8 106,678,532 (GRCm39) missense probably damaging 1.00
R1717:Slc12a4 UTSW 8 106,674,203 (GRCm39) splice site probably null
R1792:Slc12a4 UTSW 8 106,678,475 (GRCm39) missense possibly damaging 0.91
R1940:Slc12a4 UTSW 8 106,672,669 (GRCm39) missense probably benign 0.29
R3115:Slc12a4 UTSW 8 106,686,091 (GRCm39) missense probably damaging 1.00
R4898:Slc12a4 UTSW 8 106,671,241 (GRCm39) missense probably damaging 1.00
R5182:Slc12a4 UTSW 8 106,671,238 (GRCm39) missense probably damaging 1.00
R5220:Slc12a4 UTSW 8 106,680,484 (GRCm39) missense probably damaging 1.00
R5283:Slc12a4 UTSW 8 106,677,326 (GRCm39) critical splice donor site probably null
R5367:Slc12a4 UTSW 8 106,678,266 (GRCm39) missense probably damaging 0.99
R5610:Slc12a4 UTSW 8 106,676,845 (GRCm39) missense possibly damaging 0.87
R5921:Slc12a4 UTSW 8 106,671,876 (GRCm39) critical splice acceptor site probably null
R6060:Slc12a4 UTSW 8 106,672,338 (GRCm39) missense probably damaging 1.00
R6182:Slc12a4 UTSW 8 106,674,531 (GRCm39) missense probably damaging 1.00
R6722:Slc12a4 UTSW 8 106,670,882 (GRCm39) splice site probably null
R6800:Slc12a4 UTSW 8 106,676,371 (GRCm39) missense probably damaging 1.00
R6956:Slc12a4 UTSW 8 106,680,484 (GRCm39) missense probably damaging 1.00
R7032:Slc12a4 UTSW 8 106,675,865 (GRCm39) missense probably damaging 1.00
R7092:Slc12a4 UTSW 8 106,671,855 (GRCm39) missense probably damaging 1.00
R7229:Slc12a4 UTSW 8 106,673,369 (GRCm39) missense probably benign 0.05
R7243:Slc12a4 UTSW 8 106,680,552 (GRCm39) missense probably damaging 1.00
R7323:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7325:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7327:Slc12a4 UTSW 8 106,682,347 (GRCm39) missense probably damaging 1.00
R7426:Slc12a4 UTSW 8 106,677,468 (GRCm39) missense probably benign 0.00
R7569:Slc12a4 UTSW 8 106,672,479 (GRCm39) missense probably damaging 1.00
R7710:Slc12a4 UTSW 8 106,672,203 (GRCm39) missense possibly damaging 0.95
R7968:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7970:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7971:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7972:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R7973:Slc12a4 UTSW 8 106,678,237 (GRCm39) missense possibly damaging 0.94
R8221:Slc12a4 UTSW 8 106,678,601 (GRCm39) missense probably benign 0.00
R8386:Slc12a4 UTSW 8 106,678,250 (GRCm39) missense probably damaging 1.00
R8393:Slc12a4 UTSW 8 106,678,451 (GRCm39) missense probably damaging 0.99
R8751:Slc12a4 UTSW 8 106,676,285 (GRCm39) critical splice donor site probably null
R8786:Slc12a4 UTSW 8 106,680,549 (GRCm39) missense probably damaging 1.00
R8792:Slc12a4 UTSW 8 106,673,390 (GRCm39) missense probably damaging 1.00
R8941:Slc12a4 UTSW 8 106,673,322 (GRCm39) critical splice donor site probably null
R8965:Slc12a4 UTSW 8 106,671,982 (GRCm39) missense possibly damaging 0.79
R9100:Slc12a4 UTSW 8 106,675,774 (GRCm39) missense probably benign 0.30
R9113:Slc12a4 UTSW 8 106,670,984 (GRCm39) missense probably benign 0.09
X0019:Slc12a4 UTSW 8 106,670,984 (GRCm39) missense probably damaging 0.98
Z1177:Slc12a4 UTSW 8 106,673,364 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TGGATGTCACCACAAGCCACTG -3'
(R):5'- GAATGGAGACCTGACCTGCTTCAC -3'

Sequencing Primer
(F):5'- ACTGAGCCCCTGGTTCAC -3'
(R):5'- AGACTATGACCTGGACTCCTG -3'
Posted On 2013-08-06