Incidental Mutation 'IGL01407:Klf12'
ID79830
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: 0.429) question?
Stock #IGL01407
Quality Score
Status
Chromosome14
Chromosomal Location99870632-100284679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100109858 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 12 (N12K)
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097079
AA Change: N12K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: N12K

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 benign
Transcript: ENSMUST00000226774
AA Change: N12K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228216
AA Change: N12K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,245,944 D1140V probably damaging Het
Ak1 G T 2: 32,633,495 probably benign Het
Ano1 A T 7: 144,637,111 L411H probably benign Het
Atad2 A T 15: 58,104,525 N569K probably benign Het
Bst2 C A 8: 71,537,186 R81L probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Chrna5 C T 9: 55,004,399 T57M possibly damaging Het
Cp A T 3: 19,977,205 D602V possibly damaging Het
Drd2 T C 9: 49,400,815 I156T probably damaging Het
Elp4 G A 2: 105,792,308 R349W probably damaging Het
Eml6 G A 11: 29,755,021 R1508* probably null Het
Etl4 T C 2: 20,743,856 L335S probably damaging Het
Fat3 A T 9: 16,378,023 I68K probably benign Het
Fyco1 G T 9: 123,828,879 A744D probably damaging Het
Gm22165 G T 3: 64,105,465 probably benign Het
Gse1 T C 8: 120,553,587 M1T probably null Het
Hs3st5 A T 10: 36,833,408 H313L probably damaging Het
Hsd17b3 T C 13: 64,062,905 Y212C probably damaging Het
Hyal5 G T 6: 24,876,407 S93I probably benign Het
Itgb1 T C 8: 128,722,834 V578A probably benign Het
Krt40 C T 11: 99,541,219 C222Y probably damaging Het
Lrrn2 T C 1: 132,937,227 L10P probably damaging Het
Lrsam1 T C 2: 32,947,903 Y213C probably damaging Het
Mitf C A 6: 98,017,931 T277K possibly damaging Het
Ncan C T 8: 70,101,957 R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 E578G probably benign Het
Patj A G 4: 98,413,050 T191A possibly damaging Het
Pign A G 1: 105,589,302 V533A probably benign Het
Smad5 G A 13: 56,735,817 V339I probably benign Het
Spem2 T A 11: 69,817,239 Y300F possibly damaging Het
Trank1 T G 9: 111,364,722 S605A probably damaging Het
Treml4 T A 17: 48,264,849 D93E possibly damaging Het
Tsc22d2 T A 3: 58,416,503 V272E probably damaging Het
Vmn2r19 T A 6: 123,329,867 F445I possibly damaging Het
Zfp712 T A 13: 67,042,166 Q99L possibly damaging Het
Zfp719 A T 7: 43,584,187 K10I probably benign Het
Other mutations in Klf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Klf12 APN 14 100149757 missense probably damaging 0.99
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
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 On2013-11-05