Incidental Mutation 'R5802:Klf12'
ID 448802
Institutional Source Beutler Lab
Gene Symbol Klf12
Ensembl Gene ENSMUSG00000072294
Gene Name Kruppel-like factor 12
Synonyms 2700063E05Rik, D530033K05Rik, AP-2rep, B130052C06Rik
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 99870632-100284679 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100022894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]
AlphaFold O35738
Predicted Effect probably benign
Transcript: ENSMUST00000097079
AA Change: V133A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: V133A

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 unknown
Transcript: ENSMUST00000226774
AA Change: V133A
Predicted Effect probably benign
Transcript: ENSMUST00000228216
AA Change: V133A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0576 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,950,964 (GRCm38) D383V probably damaging Het
Abca4 A T 3: 122,054,232 (GRCm38) L67F probably damaging Het
Abcc9 C A 6: 142,656,676 (GRCm38) probably null Het
Atp2a3 T C 11: 72,972,882 (GRCm38) V175A probably damaging Het
B3galt4 T A 17: 33,950,757 (GRCm38) D169V probably damaging Het
Bsn C T 9: 108,113,009 (GRCm38) R1848Q possibly damaging Het
Camkk2 T C 5: 122,734,244 (GRCm38) E90G probably damaging Het
Cdon T A 9: 35,454,420 (GRCm38) I155N probably damaging Het
Cep70 A G 9: 99,296,405 (GRCm38) N519D probably damaging Het
Clgn T C 8: 83,425,614 (GRCm38) S582P probably damaging Het
Cnga3 T C 1: 37,260,925 (GRCm38) F280S probably damaging Het
Dennd4c C T 4: 86,811,453 (GRCm38) T764M probably benign Het
Dis3 A T 14: 99,099,664 (GRCm38) S4T probably damaging Het
Dlgap1 T C 17: 70,766,091 (GRCm38) probably null Het
Dnah17 C T 11: 118,036,446 (GRCm38) V3839I possibly damaging Het
Dnajc1 A G 2: 18,284,739 (GRCm38) Y286H probably benign Het
Dynap T A 18: 70,241,002 (GRCm38) D151V unknown Het
Ednrb A G 14: 103,821,714 (GRCm38) F292S probably damaging Het
Eef1a1 A G 9: 78,479,036 (GRCm38) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm38) F324S probably benign Het
Fbxw11 T A 11: 32,711,790 (GRCm38) S56T probably benign Het
Gm13178 T A 4: 144,703,636 (GRCm38) D261V probably damaging Het
Gm14409 T C 2: 177,265,256 (GRCm38) T150A possibly damaging Het
Gm17535 G C 9: 3,035,758 (GRCm38) V209L probably benign Homo
Gm20767 G A 13: 120,154,913 (GRCm38) S96N possibly damaging Het
Gm5592 C T 7: 41,219,105 (GRCm38) probably benign Het
Gm7030 A G 17: 36,111,287 (GRCm38) probably benign Het
Gpr137 C T 19: 6,942,005 (GRCm38) W51* probably null Het
Hbb-bs T C 7: 103,826,672 (GRCm38) Y146C probably damaging Het
Herc1 G T 9: 66,462,878 (GRCm38) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,665,056 (GRCm38) N309K unknown Het
Hydin A T 8: 110,452,060 (GRCm38) I1096F possibly damaging Het
Lats2 A T 14: 57,694,418 (GRCm38) Y848N probably damaging Het
Loxl3 A G 6: 83,049,289 (GRCm38) T453A possibly damaging Het
Ltn1 T G 16: 87,415,681 (GRCm38) H664P probably benign Het
Lypd6 C T 2: 50,173,601 (GRCm38) T40I probably benign Het
Nbeal1 A T 1: 60,272,221 (GRCm38) T1817S probably benign Het
Nub1 A C 5: 24,702,441 (GRCm38) Y350S possibly damaging Het
Pbp2 A G 6: 135,309,876 (GRCm38) Y158H possibly damaging Het
Ptpru C T 4: 131,788,377 (GRCm38) E827K possibly damaging Het
Rap1a A G 3: 105,745,936 (GRCm38) Y32H probably damaging Het
Raph1 T C 1: 60,488,673 (GRCm38) N1143S possibly damaging Het
Rbl1 T C 2: 157,161,433 (GRCm38) T859A probably benign Het
Rom1 A G 19: 8,928,824 (GRCm38) L117P probably damaging Het
Senp6 T C 9: 80,118,644 (GRCm38) probably benign Het
Sirpb1c T C 3: 15,832,076 (GRCm38) M379V probably benign Het
Slc6a4 C T 11: 77,019,236 (GRCm38) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm38) R141L probably damaging Het
Stk10 C T 11: 32,596,748 (GRCm38) P335L probably benign Het
Tecpr1 A T 5: 144,206,546 (GRCm38) N670K probably benign Het
Tgds T C 14: 118,132,707 (GRCm38) E8G probably benign Het
Tmem129 A G 5: 33,657,716 (GRCm38) S38P probably damaging Het
Trappc9 T C 15: 72,685,339 (GRCm38) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm38) probably benign Het
Wapl A G 14: 34,692,320 (GRCm38) T380A probably damaging Het
Xylt1 A T 7: 117,656,691 (GRCm38) T829S probably benign Het
Zc3h6 C T 2: 129,015,559 (GRCm38) P666L possibly damaging Het
Zfp703 C T 8: 26,979,205 (GRCm38) P299L probably damaging Het
Other mutations in Klf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Klf12 APN 14 100,149,757 (GRCm38) missense probably damaging 0.99
IGL01407:Klf12 APN 14 100,109,858 (GRCm38) missense possibly damaging 0.72
IGL01621:Klf12 APN 14 100,023,149 (GRCm38) missense probably damaging 1.00
IGL02746:Klf12 APN 14 99,900,220 (GRCm38) missense probably benign 0.17
IGL02839:Klf12 APN 14 99,900,239 (GRCm38) nonsense probably null
R0034:Klf12 UTSW 14 99,987,429 (GRCm38) critical splice donor site probably null
R0034:Klf12 UTSW 14 99,987,429 (GRCm38) critical splice donor site probably null
R0212:Klf12 UTSW 14 100,022,862 (GRCm38) missense probably benign
R0577:Klf12 UTSW 14 100,023,149 (GRCm38) missense probably damaging 0.99
R1980:Klf12 UTSW 14 100,149,726 (GRCm38) splice site probably null
R2017:Klf12 UTSW 14 100,022,637 (GRCm38) missense possibly damaging 0.87
R2282:Klf12 UTSW 14 99,900,145 (GRCm38) missense probably damaging 0.96
R2317:Klf12 UTSW 14 99,942,067 (GRCm38) missense probably benign 0.00
R2901:Klf12 UTSW 14 99,900,146 (GRCm38) missense probably damaging 0.98
R4946:Klf12 UTSW 14 100,022,957 (GRCm38) missense possibly damaging 0.53
R5386:Klf12 UTSW 14 99,900,159 (GRCm38) missense probably damaging 1.00
R5903:Klf12 UTSW 14 100,022,688 (GRCm38) missense probably damaging 0.99
R6037:Klf12 UTSW 14 99,900,214 (GRCm38) missense probably benign 0.17
R6037:Klf12 UTSW 14 99,900,214 (GRCm38) missense probably benign 0.17
R6753:Klf12 UTSW 14 100,109,776 (GRCm38) nonsense probably null
R8801:Klf12 UTSW 14 100,022,736 (GRCm38) missense probably benign 0.18
R9347:Klf12 UTSW 14 100,022,708 (GRCm38) missense possibly damaging 0.82
R9455:Klf12 UTSW 14 100,109,790 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-12-15