Incidental Mutation 'R2317:Klf12'
ID 245539
Institutional Source Beutler Lab
Gene Symbol Klf12
Ensembl Gene ENSMUSG00000072294
Gene Name Kruppel-like transcription factor 12
Synonyms AP-2rep, 2700063E05Rik, D530033K05Rik, B130052C06Rik
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R2317 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 100108068-100522115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100179503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 279 (R279Q)
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000228216]
AlphaFold O35738
Predicted Effect probably benign
Transcript: ENSMUST00000097079
AA Change: R279Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: R279Q

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 benign
Transcript: ENSMUST00000228216
AA Change: R279Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Klf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Klf12 APN 14 100,387,193 (GRCm39) missense probably damaging 0.99
IGL01407:Klf12 APN 14 100,347,294 (GRCm39) missense possibly damaging 0.72
IGL01621:Klf12 APN 14 100,260,585 (GRCm39) missense probably damaging 1.00
IGL02746:Klf12 APN 14 100,137,656 (GRCm39) missense probably benign 0.17
IGL02839:Klf12 APN 14 100,137,675 (GRCm39) nonsense probably null
R0034:Klf12 UTSW 14 100,224,865 (GRCm39) critical splice donor site probably null
R0034:Klf12 UTSW 14 100,224,865 (GRCm39) critical splice donor site probably null
R0212:Klf12 UTSW 14 100,260,298 (GRCm39) missense probably benign
R0577:Klf12 UTSW 14 100,260,585 (GRCm39) missense probably damaging 0.99
R1980:Klf12 UTSW 14 100,387,162 (GRCm39) splice site probably null
R2017:Klf12 UTSW 14 100,260,073 (GRCm39) missense possibly damaging 0.87
R2282:Klf12 UTSW 14 100,137,581 (GRCm39) missense probably damaging 0.96
R2901:Klf12 UTSW 14 100,137,582 (GRCm39) missense probably damaging 0.98
R4946:Klf12 UTSW 14 100,260,393 (GRCm39) missense possibly damaging 0.53
R5386:Klf12 UTSW 14 100,137,595 (GRCm39) missense probably damaging 1.00
R5802:Klf12 UTSW 14 100,260,330 (GRCm39) missense probably benign 0.33
R5903:Klf12 UTSW 14 100,260,124 (GRCm39) missense probably damaging 0.99
R6037:Klf12 UTSW 14 100,137,650 (GRCm39) missense probably benign 0.17
R6037:Klf12 UTSW 14 100,137,650 (GRCm39) missense probably benign 0.17
R6753:Klf12 UTSW 14 100,347,212 (GRCm39) nonsense probably null
R8801:Klf12 UTSW 14 100,260,172 (GRCm39) missense probably benign 0.18
R9347:Klf12 UTSW 14 100,260,144 (GRCm39) missense possibly damaging 0.82
R9455:Klf12 UTSW 14 100,347,226 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-30