Incidental Mutation 'R0577:Klf12'
ID 56274
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 038767-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R0577 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 100108068-100522115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100260585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 48 (Y48F)
Ref Sequence ENSEMBL: ENSMUSP00000153987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]
AlphaFold O35738
Predicted Effect possibly damaging
Transcript: ENSMUST00000097079
AA Change: Y48F

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: Y48F

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 damaging
Transcript: ENSMUST00000226774
AA Change: Y48F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228216
AA Change: Y48F

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1031 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,910 (GRCm39) H336Q probably benign Het
Abcc2 A T 19: 43,807,840 (GRCm39) D827V probably damaging Het
Asph G T 4: 9,604,620 (GRCm39) A139E probably benign Het
Bag3 T C 7: 128,125,611 (GRCm39) M10T probably benign Het
Bod1l T C 5: 41,952,230 (GRCm39) D2894G probably damaging Het
Cdk12 T C 11: 98,094,332 (GRCm39) S47P probably damaging Het
Dchs1 C T 7: 105,413,462 (GRCm39) V1118I possibly damaging Het
Ddi2 A T 4: 141,411,818 (GRCm39) C365S possibly damaging Het
Eef1g A G 19: 8,950,406 (GRCm39) D264G probably benign Het
Fbxw17 T C 13: 50,585,619 (GRCm39) L274P probably benign Het
Gpc6 A G 14: 117,673,420 (GRCm39) T226A probably benign Het
Klhdc4 C T 8: 122,548,090 (GRCm39) A67T probably damaging Het
Macir C T 1: 97,589,551 (GRCm39) probably null Het
Madd C T 2: 90,968,740 (GRCm39) E1596K possibly damaging Het
Mov10l1 A G 15: 88,889,930 (GRCm39) Y533C probably damaging Het
Mtif2 G T 11: 29,490,862 (GRCm39) probably null Het
Mtmr6 G A 14: 60,534,087 (GRCm39) V442I possibly damaging Het
Or4k15b C T 14: 50,272,249 (GRCm39) G204R probably damaging Het
Or5ac23 A T 16: 59,149,061 (GRCm39) D270E probably benign Het
Or9i16 T C 19: 13,865,167 (GRCm39) T136A probably damaging Het
Pdcd11 A G 19: 47,087,271 (GRCm39) N277S probably benign Het
Pias2 A T 18: 77,184,977 (GRCm39) L12F probably damaging Het
Potefam1 G T 2: 111,024,694 (GRCm39) Q57K probably benign Het
Rnf213 G T 11: 119,334,106 (GRCm39) R3105L probably damaging Het
Rps11 A G 7: 44,772,274 (GRCm39) V111A probably benign Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
Thsd7a T C 6: 12,321,047 (GRCm39) T1543A possibly damaging Het
Vmn2r86 C A 10: 130,288,444 (GRCm39) R352S probably benign Het
Zfp141 T C 7: 42,125,938 (GRCm39) N178S probably benign Het
Zfp955a A T 17: 33,461,068 (GRCm39) F355I 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
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
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
(F):5'- ACCACAGGGATTCGATGAACATGAC -3'
(R):5'- TGTGACCTCTTGTATGAACCAGTGC -3'

Sequencing Primer
(F):5'- CTGTTGACGAAGACGATGCTG -3'
(R):5'- GTGCGTCCTTCCAATGAAAAG -3'
Posted On 2013-07-11