Incidental Mutation 'R8386:Slc12a4'
ID 647164
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 067752-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R8386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106670222-106692729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106678250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 314 (N314K)
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: N314K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: N314K

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: N312K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: N312K

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 probably benign
Transcript: ENSMUST00000132231
SMART Domains Protein: ENSMUSP00000121018
Gene: ENSMUSG00000017765

DomainStartEndE-ValueType
low complexity region 66 86 N/A INTRINSIC
Pfam:AA_permease 94 171 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,021,518 (GRCm39) A1064D probably damaging Het
Adgb A G 10: 10,226,048 (GRCm39) I1390T probably damaging Het
Aktip G A 8: 91,857,674 (GRCm39) R13C probably benign Het
Arnt2 T A 7: 83,996,747 (GRCm39) I71F probably damaging Het
Casr T A 16: 36,335,950 (GRCm39) I120F probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cntnap1 A T 11: 101,073,029 (GRCm39) R544S probably damaging Het
Cse1l T C 2: 166,761,604 (GRCm39) S53P probably benign Het
Cyfip1 T C 7: 55,527,488 (GRCm39) S207P probably damaging Het
Fam120b G A 17: 15,643,246 (GRCm39) S675N probably benign Het
Fcna C T 2: 25,516,027 (GRCm39) W163* probably null Het
Gast A G 11: 100,227,691 (GRCm39) D91G probably damaging Het
Igkv6-14 T C 6: 70,411,966 (GRCm39) Y106C probably damaging Het
Lin28b A G 10: 45,345,140 (GRCm39) V62A probably damaging Het
Malrd1 T A 2: 15,701,655 (GRCm39) S757T unknown Het
Ms4a15 A T 19: 10,970,546 (GRCm39) C3S unknown Het
Muc5ac G A 7: 141,361,371 (GRCm39) V1561I possibly damaging Het
Ndufb11b C T 15: 81,864,830 (GRCm39) L24F probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or5p70 TTTCTTCTTCT TTTCTTCT 7: 107,994,555 (GRCm39) probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Ppp1r3c T C 19: 36,711,338 (GRCm39) D144G probably damaging Het
Setd1b T A 5: 123,282,319 (GRCm39) V149D unknown Het
Shcbp1 A C 8: 4,817,951 (GRCm39) W115G probably damaging Het
Shroom1 A T 11: 53,357,230 (GRCm39) K631M probably damaging Het
Sipa1l2 A T 8: 126,218,832 (GRCm39) S168R probably damaging Het
Syngap1 T A 17: 27,179,465 (GRCm39) M755K possibly damaging Het
Tnik A G 3: 28,317,823 (GRCm39) D11G unknown Het
Trim80 A G 11: 115,335,900 (GRCm39) D274G probably damaging Het
Ush2a A G 1: 188,460,403 (GRCm39) T2555A possibly damaging Het
Vps13a A T 19: 16,678,483 (GRCm39) probably null Het
Wnt7a C T 6: 91,343,270 (GRCm39) G204D probably damaging Het
Zfp420 A T 7: 29,575,043 (GRCm39) Y421F probably benign Het
Zfp882 A G 8: 72,667,962 (GRCm39) H263R probably benign 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
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
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'- GTATGCCAGGAATCTCTGTCAC -3'
(R):5'- CGTGAACAAGTTTGCCTCGC -3'

Sequencing Primer
(F):5'- CCAGGAATCTCTGTCACATTGTTGAG -3'
(R):5'- GGAGGCATCAAGTCCATTTTTGACC -3'
Posted On 2020-09-02