Incidental Mutation 'IGL02839:Klf12'
ID361777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf12
Ensembl Gene ENSMUSG00000072294
Gene NameKruppel-like factor 12
Synonyms2700063E05Rik, D530033K05Rik, AP-2rep, B130052C06Rik
Accession Numbers

Ncbi RefSeq: NM_010636.3; MGI:1333796

Is this an essential gene? Possibly non essential (E-score: 0.470) question?
Stock #IGL02839
Quality Score
Status
Chromosome14
Chromosomal Location99870632-100284679 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 99900239 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 290 (C290*)
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000228216]
Predicted Effect probably null
Transcript: ENSMUST00000097079
AA Change: C290*
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: C290*

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 noncoding transcript
Transcript: ENSMUST00000226205
Predicted Effect probably null
Transcript: ENSMUST00000228216
AA Change: C290*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228612
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,760,023 probably null Het
Aldh1l1 T C 6: 90,569,875 F387L possibly damaging Het
Aldh5a1 A G 13: 24,911,620 S505P probably damaging Het
Aox1 A G 1: 58,068,784 T642A probably benign Het
Atg16l2 T C 7: 101,293,397 I364V probably damaging Het
Atp2c2 T C 8: 119,749,120 V584A possibly damaging Het
Axl A T 7: 25,766,791 probably null Het
Camta1 T C 4: 151,144,512 Q621R probably damaging Het
Cdca4 A T 12: 112,821,891 D72E probably damaging Het
Col1a2 T A 6: 4,538,748 Y1223N unknown Het
Drc1 T C 5: 30,350,423 M263T probably benign Het
Eef1akmt1 A T 14: 57,549,781 Y213N probably damaging Het
Fat3 C A 9: 15,919,170 D4343Y probably damaging Het
Gm813 A G 16: 58,615,847 Y38H probably damaging Het
Gucy2d T C 7: 98,443,989 V191A possibly damaging Het
Hdac5 A G 11: 102,204,908 L355P probably damaging Het
Hdgfl3 C T 7: 81,900,412 G58D probably damaging Het
Hnrnpul1 A G 7: 25,733,242 probably null Het
Mtmr3 A T 11: 4,487,994 I820N probably benign Het
Myo7a A T 7: 98,091,122 L555Q probably damaging Het
Nrsn1 A G 13: 25,253,544 C134R probably damaging Het
Olfr1094 T A 2: 86,829,368 N205K probably benign Het
Olfr1205 G A 2: 88,831,648 C177Y probably damaging Het
Olfr159 T A 4: 43,770,943 K23* probably null Het
Olfr206 A T 16: 59,345,390 C104S probably benign Het
Olfr59 T A 11: 74,289,370 C241* probably null Het
Olfr681 A C 7: 105,122,356 T300P probably damaging Het
Pik3r6 A G 11: 68,526,412 E60G probably damaging Het
Pkhd1l1 T A 15: 44,529,543 I1758N probably damaging Het
Poc1b A G 10: 99,144,598 probably benign Het
Rnf103 G T 6: 71,509,705 R440L probably benign Het
Siglec1 A G 2: 131,084,932 V237A possibly damaging Het
Skiv2l T C 17: 34,847,798 T165A probably benign Het
Slit3 A G 11: 35,649,047 N762S possibly damaging Het
Trank1 A G 9: 111,364,756 N616S probably damaging Het
Trav14d-3-dv8 C A 14: 53,078,790 Q36K possibly damaging Het
Ttll6 T C 11: 96,158,820 V788A probably damaging Het
Ube4b A T 4: 149,368,399 S357T probably damaging Het
Unc80 A G 1: 66,671,675 H2701R possibly damaging Het
Wdfy3 A G 5: 101,968,920 S85P 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
R0034:Klf12 UTSW 14 99987429 critical splice donor site 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
Posted On2015-12-18