Incidental Mutation 'R7325:Slc12a4'
ID 568824
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 045419-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R7325 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106670222-106692729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106682347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 121 (G121S)
Ref Sequence ENSEMBL: ENSMUSP00000034370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034370] [ENSMUST00000116429]
AlphaFold Q9JIS8
Predicted Effect probably damaging
Transcript: ENSMUST00000034370
AA Change: G121S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: G121S

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 damaging
Transcript: ENSMUST00000116429
AA Change: G119S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: G119S

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
SMART Domains Protein: ENSMUSP00000121018
Gene: ENSMUSG00000017765
AA Change: G89S

DomainStartEndE-ValueType
low complexity region 66 86 N/A INTRINSIC
Pfam:AA_permease 94 171 1.3e-19 PFAM
Meta Mutation Damage Score 0.8531 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,571,711 (GRCm39) Q402L probably benign Het
Afap1l1 T C 18: 61,869,917 (GRCm39) T638A probably benign Het
Agtr1a A C 13: 30,565,890 (GRCm39) K318N possibly damaging Het
Anks1b A G 10: 90,777,294 (GRCm39) T1095A probably damaging Het
Ap3d1 A T 10: 80,559,637 (GRCm39) I207N probably damaging Het
Arhgef11 T C 3: 87,620,599 (GRCm39) L484P possibly damaging Het
Astn2 C T 4: 65,460,906 (GRCm39) S1076N probably benign Het
Baat C A 4: 49,490,213 (GRCm39) L290F probably benign Het
Boll T C 1: 55,343,757 (GRCm39) Y222C probably damaging Het
Bphl A T 13: 34,234,324 (GRCm39) I147F possibly damaging Het
Cadps2 T G 6: 23,409,934 (GRCm39) D766A unknown Het
Cd300lb T A 11: 114,815,858 (GRCm39) K210M probably damaging Het
Cdan1 T C 2: 120,555,185 (GRCm39) Q797R probably benign Het
Celsr1 T A 15: 85,917,209 (GRCm39) S255C probably damaging Het
Cfap91 T A 16: 38,141,963 (GRCm39) probably null Het
Cip2a T A 16: 48,826,184 (GRCm39) M417K probably benign Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Dennd5b T A 6: 148,922,068 (GRCm39) K815N probably benign Het
Exd1 A G 2: 119,350,620 (GRCm39) V547A probably benign Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fip1l1 A G 5: 74,697,460 (GRCm39) probably null Het
Flg2 T A 3: 93,110,679 (GRCm39) N902K unknown Het
Fyttd1 T A 16: 32,704,618 (GRCm39) N76K probably benign Het
Gins1 T A 2: 150,758,086 (GRCm39) D57E probably benign Het
Gm5565 G C 5: 146,095,171 (GRCm39) probably null Het
Gpsm2 T C 3: 108,610,244 (GRCm39) Y72C probably damaging Het
Hace1 C A 10: 45,465,603 (GRCm39) S53* probably null Het
Insig2 A G 1: 121,234,666 (GRCm39) V188A possibly damaging Het
Ism1 T C 2: 139,598,963 (GRCm39) V312A probably damaging Het
Jmy A T 13: 93,609,251 (GRCm39) Y353N probably damaging Het
Maz A C 7: 126,624,725 (GRCm39) V265G probably benign Het
Mtmr14 T A 6: 113,246,509 (GRCm39) I426N probably damaging Het
Or1e34 C T 11: 73,779,101 (GRCm39) M32I probably benign Het
Or5b113 A G 19: 13,342,001 (GRCm39) E3G probably benign Het
Or8k22 A G 2: 86,163,344 (GRCm39) S119P possibly damaging Het
Pcdhac2 T A 18: 37,278,413 (GRCm39) N464K probably damaging Het
Pcdhb7 T A 18: 37,476,440 (GRCm39) H525Q probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Podn C T 4: 107,874,899 (GRCm39) probably null Het
Prim1 A G 10: 127,858,788 (GRCm39) D232G probably null Het
Prrt1 T A 17: 34,851,161 (GRCm39) M283K possibly damaging Het
Rgs9 A T 11: 109,167,407 (GRCm39) I65N probably damaging Het
Scgb2b26 C A 7: 33,643,782 (GRCm39) V53L probably benign Het
Shank2 C A 7: 143,965,422 (GRCm39) P1010Q probably benign Het
Slc17a6 G T 7: 51,294,766 (GRCm39) A158S probably damaging Het
Slc9a9 C T 9: 94,594,951 (GRCm39) H154Y probably benign Het
Slco1a8 T C 6: 141,934,951 (GRCm39) K379E probably damaging Het
Slco2a1 T A 9: 102,962,948 (GRCm39) probably null Het
Snapc3 T C 4: 83,353,507 (GRCm39) I182T probably benign Het
Taok2 A G 7: 126,470,260 (GRCm39) V856A probably benign Het
Tep1 T A 14: 51,103,495 (GRCm39) N265I probably damaging Het
Tespa1 A T 10: 130,197,910 (GRCm39) N311Y probably damaging Het
Tpmt G A 13: 47,194,960 (GRCm39) Q14* probably null Het
Trim33 T C 3: 103,228,952 (GRCm39) F353L possibly damaging Het
Upp1 T C 11: 9,084,743 (GRCm39) V154A probably damaging Het
Usp34 T C 11: 23,369,052 (GRCm39) I1747T Het
Vmn1r47 T C 6: 89,999,254 (GRCm39) S129P probably benign Het
Vmn2r93 A G 17: 18,524,249 (GRCm39) Y81C probably benign Het
Ybx2 A T 11: 69,831,181 (GRCm39) T259S probably benign Het
Zfp536 T C 7: 37,179,285 (GRCm39) T1107A probably benign Het
Zfp583 C T 7: 6,319,585 (GRCm39) A476T probably 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
R0033:Slc12a4 UTSW 8 106,674,111 (GRCm39) splice site probably benign
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
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'- CTCATGGAGATGGCTGTCAG -3'
(R):5'- CTATGGGAGAGATAGCCTAGCATC -3'

Sequencing Primer
(F):5'- TCTGTAGAGCCACCTGCC -3'
(R):5'- GCATCTGCTCCTACCTTCTGTG -3'
Posted On 2019-09-13