Incidental Mutation 'R5802:Klf12'
ID 448802
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 043391-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 100108068-100522115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100260330 bp (GRCm39)
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

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 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: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
R2317:Klf12 UTSW 14 100,179,503 (GRCm39) missense probably benign 0.00
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
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
(F):5'- TACAGCTGTGTAGACAACCG -3'
(R):5'- GGACTCACTGCCTGTAGATC -3'

Sequencing Primer
(F):5'- TGTAGACAACCGGCACTGACTG -3'
(R):5'- GCCTGTAGATCACTTTCAGACAC -3'
Posted On 2016-12-15