Incidental Mutation 'IGL01736:Slc12a4'
ID 105723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc12a4
Ensembl Gene ENSMUSG00000017765
Gene Name solute carrier family 12, member 4
Synonyms K-Cl Co-transporter-1, KCC1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL01736
Quality Score
Status
Chromosome 8
Chromosomal Location 106670222-106692729 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 106672475 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 null
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 null
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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S 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
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
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
Posted On 2014-01-21