Incidental Mutation 'R5903:Klf12'
ID 456467
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 044101-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.461) question?
Stock # R5903 (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 100260124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 202 (S202P)
Ref Sequence ENSEMBL: ENSMUSP00000153901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]
AlphaFold O35738
Predicted Effect probably damaging
Transcript: ENSMUST00000097079
AA Change: S202P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: S202P

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
Predicted Effect probably damaging
Transcript: ENSMUST00000228216
AA Change: S202P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.1641 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.8%
Validation Efficiency 98% (58/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,661 (GRCm39) V150A unknown Het
Abraxas1 T C 5: 100,965,824 (GRCm39) probably null Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atg2b T C 12: 105,605,618 (GRCm39) D1449G possibly damaging Het
Atg7 G A 6: 114,683,254 (GRCm39) W439* probably null Het
Atp6v0a2 T A 5: 124,789,343 (GRCm39) I370N probably damaging Het
B4galt1 T C 4: 40,807,760 (GRCm39) D347G probably damaging Het
Baz2b C T 2: 59,790,233 (GRCm39) C660Y probably damaging Het
Ccdc88c T C 12: 100,896,801 (GRCm39) Y1390C probably damaging Het
Cdcp1 G A 9: 123,002,837 (GRCm39) Q745* probably null Het
Cep97 G A 16: 55,739,889 (GRCm39) S185L probably damaging Het
Clec4d A G 6: 123,244,020 (GRCm39) H43R probably damaging Het
Cntn3 T A 6: 102,219,094 (GRCm39) M509L probably benign Het
Cntrob A C 11: 69,200,201 (GRCm39) S564R possibly damaging Het
Cyp2j8 T A 4: 96,395,514 (GRCm39) N37I possibly damaging Het
Edc4 A G 8: 106,617,219 (GRCm39) T1029A probably benign Het
Fhip2b A T 14: 70,829,121 (GRCm39) V64E probably damaging Het
Fmnl1 G T 11: 103,062,270 (GRCm39) probably null Het
Fzd6 T A 15: 38,870,783 (GRCm39) M1K probably null Het
Gle1 C A 2: 29,830,293 (GRCm39) T283N probably benign Het
Hsd17b14 T C 7: 45,215,386 (GRCm39) V161A probably damaging Het
Hsf2 T C 10: 57,380,819 (GRCm39) S218P probably benign Het
Ipo7 T A 7: 109,650,020 (GRCm39) C736S probably damaging Het
Itpkb G T 1: 180,241,540 (GRCm39) V737L probably damaging Het
Itpr1 T C 6: 108,466,758 (GRCm39) probably benign Het
Kcnh8 G T 17: 53,110,364 (GRCm39) V192L possibly damaging Het
Kctd10 G A 5: 114,518,523 (GRCm39) probably benign Het
Kdm3a C A 6: 71,609,234 (GRCm39) probably benign Het
Kif5a T A 10: 127,066,447 (GRCm39) M990L probably benign Het
Krt81 T G 15: 101,358,083 (GRCm39) Q390P probably damaging Het
Lrig3 T C 10: 125,844,347 (GRCm39) S604P probably damaging Het
Ms4a1 A T 19: 11,235,612 (GRCm39) V48D probably damaging Het
Mta1 C T 12: 113,100,239 (GRCm39) P688L probably damaging Het
Oas1h T C 5: 121,009,040 (GRCm39) V250A probably damaging Het
Or10c1 A T 17: 37,521,912 (GRCm39) Y277* probably null Het
Or52z13 G T 7: 103,247,128 (GRCm39) G202* probably null Het
P2rx3 T C 2: 84,831,071 (GRCm39) E265G possibly damaging Het
Pdzd8 A G 19: 59,333,718 (GRCm39) I101T possibly damaging Het
Psme4 A T 11: 30,791,589 (GRCm39) N1148I probably benign Het
Rnf213 T C 11: 119,312,195 (GRCm39) L874P probably damaging Het
Sart3 T C 5: 113,889,300 (GRCm39) Y508C probably damaging Het
Sez6l2 T C 7: 126,569,305 (GRCm39) probably benign Het
Slc9b1 C T 3: 135,098,655 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,573 (GRCm39) K78E possibly damaging Het
Thsd4 T A 9: 60,301,389 (GRCm39) N302I possibly damaging Het
Trdv5 A T 14: 54,386,242 (GRCm39) H74Q probably benign Het
Tubb4b C T 2: 25,113,993 (GRCm39) R77H probably benign Het
Ugt1a6a C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Unc5a T A 13: 55,147,503 (GRCm39) C438S possibly damaging Het
Zan C A 5: 137,440,396 (GRCm39) C1946F unknown 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
R5802:Klf12 UTSW 14 100,260,330 (GRCm39) missense probably benign 0.33
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'- AAGCAGTGCCCTATTCAATATGG -3'
(R):5'- ATCTCCAGGACCCCTTGTTG -3'

Sequencing Primer
(F):5'- GGCCAATCATATGGTCTACAAGGTTC -3'
(R):5'- AGGACCCCTTGTTGCCTCTG -3'
Posted On 2017-02-15