Incidental Mutation 'R0034:Klf12'
ID15272
Institutional Source Beutler Lab
Gene Symbol Klf12
Ensembl Gene ENSMUSG00000072294
Gene NameKruppel-like factor 12
Synonyms2700063E05Rik, D530033K05Rik, AP-2rep, B130052C06Rik
MMRRC Submission 038328-MU
Accession Numbers

Ncbi RefSeq: NM_010636.3; MGI:1333796

Is this an essential gene? Possibly non essential (E-score: 0.403) question?
Stock #R0034 (G1)
Quality Score
Status Validated
Chromosome14
Chromosomal Location99870632-100284679 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 99987429 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000228216]
Predicted Effect probably null
Transcript: ENSMUST00000097079
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294

DomainStartEndE-ValueType
low complexity region 89 145 N/A INTRINSIC
low complexity region 183 200 N/A INTRINSIC
ZnF_C2H2 317 341 9.58e-3 SMART
ZnF_C2H2 347 371 8.6e-5 SMART
ZnF_C2H2 377 399 9.58e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000228216
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 64.3%
  • 10x: 35.1%
  • 20x: 16.8%
Validation Efficiency 87% (59/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(49) : Targeted(1) Gene trapped(48)

Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,736,572 H664R probably damaging Het
Asns G A 6: 7,676,299 P419L probably damaging Het
Cep152 C T 2: 125,583,893 A851T probably benign Het
Chrna7 T G 7: 63,148,606 K109N possibly damaging Het
Farp1 A G 14: 121,255,429 H481R probably benign Het
Kif9 G A 9: 110,519,611 C738Y probably benign Het
Ltbp1 T A 17: 75,047,568 probably benign Het
Map2k4 A G 11: 65,719,611 probably benign Het
Nat8f5 C A 6: 85,817,886 A31S probably benign Het
Plb1 G T 5: 32,273,113 G138V probably benign Het
Plcz1 A T 6: 140,020,448 probably benign Het
Poln A C 5: 34,115,418 V398G possibly damaging Het
Ppp2r2c A G 5: 36,927,539 I115V probably benign Het
Rapgef1 C A 2: 29,724,768 probably benign Het
Rbm43 A T 2: 51,925,710 D166E probably benign Het
Sgk3 T C 1: 9,885,677 V301A probably damaging Het
Trap1 A T 16: 4,069,030 probably benign Het
Trim14 A G 4: 46,523,627 L137P probably damaging Het
Tsku T C 7: 98,352,663 T154A possibly damaging Het
Usp50 T C 2: 126,777,975 E139G possibly damaging Het
Zfp949 A T 9: 88,567,640 probably benign Het
Zscan20 T C 4: 128,585,662 N1012S probably damaging Het
Other mutations in Klf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Klf12 APN 14 100149757 missense probably damaging 0.99
IGL01407:Klf12 APN 14 100109858 missense possibly damaging 0.72
IGL01621:Klf12 APN 14 100023149 missense probably damaging 1.00
IGL02746:Klf12 APN 14 99900220 missense probably benign 0.17
IGL02839:Klf12 APN 14 99900239 nonsense probably null
R0034:Klf12 UTSW 14 99987429 critical splice donor site probably null
R0212:Klf12 UTSW 14 100022862 missense probably benign
R0577:Klf12 UTSW 14 100023149 missense probably damaging 0.99
R1980:Klf12 UTSW 14 100149726 splice site probably null
R2017:Klf12 UTSW 14 100022637 missense possibly damaging 0.87
R2282:Klf12 UTSW 14 99900145 missense probably damaging 0.96
R2317:Klf12 UTSW 14 99942067 missense probably benign 0.00
R2901:Klf12 UTSW 14 99900146 missense probably damaging 0.98
R4946:Klf12 UTSW 14 100022957 missense possibly damaging 0.53
R5386:Klf12 UTSW 14 99900159 missense probably damaging 1.00
R5802:Klf12 UTSW 14 100022894 missense probably benign 0.33
R5903:Klf12 UTSW 14 100022688 missense probably damaging 0.99
R6037:Klf12 UTSW 14 99900214 missense probably benign 0.17
R6037:Klf12 UTSW 14 99900214 missense probably benign 0.17
R6753:Klf12 UTSW 14 100109776 nonsense probably null
Protein Function and Prediction

Klf12 encodes AP2 repressor (AP-2REP), which shares structural homology with transcription factors of the Wt-1/EGR-1 family (1) and is a Krüppel-like zinc finger protein (2). AP-2REP represses the transcription of the AP-2α gene (1;2). KLF12 increases UT-A1 but not ENaC promoter activity and is proposed to be involved in the post-birth maturation of the kidney collecting ducts (3).

Expression/Localization

Klf12 expression is highest in the adult kidney and low levels are detected in the liver and lung; no other tissues expressed transcripts (1). Expression is initially observed in the kidney at about 15 days after birth (3).  AP-2REP is expressed in the collecting ducts of the kidney (3).  

References
Posted On2012-12-17
Science WriterAnne Murray