Incidental Mutation 'IGL01621:Klf12'
ID92601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf12
Ensembl Gene ENSMUSG00000072294
Gene NameKruppel-like factor 12
Synonyms2700063E05Rik, D530033K05Rik, AP-2rep, B130052C06Rik
Accession Numbers

Ncbi RefSeq: NM_010636.3; MGI:1333796

Is this an essential gene? Possibly non essential (E-score: 0.495) question?
Stock #IGL01621
Quality Score
Status
Chromosome14
Chromosomal Location99870632-100284679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100023149 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 48 (Y48C)
Ref Sequence ENSEMBL: ENSMUSP00000153987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097079] [ENSMUST00000226774] [ENSMUST00000228216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097079
AA Change: Y48C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094844
Gene: ENSMUSG00000072294
AA Change: Y48C

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: Y48C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228216
AA Change: Y48C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Klf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Klf12 APN 14 100149757 missense probably damaging 0.99
IGL01407:Klf12 APN 14 100109858 missense possibly damaging 0.72
IGL02746:Klf12 APN 14 99900220 missense probably benign 0.17
IGL02839:Klf12 APN 14 99900239 nonsense probably null
R0034:Klf12 UTSW 14 99987429 critical splice donor site probably null
R0034:Klf12 UTSW 14 99987429 critical splice donor site probably null
R0212:Klf12 UTSW 14 100022862 missense probably benign
R0577:Klf12 UTSW 14 100023149 missense probably damaging 0.99
R1980:Klf12 UTSW 14 100149726 splice site probably null
R2017:Klf12 UTSW 14 100022637 missense possibly damaging 0.87
R2282:Klf12 UTSW 14 99900145 missense probably damaging 0.96
R2317:Klf12 UTSW 14 99942067 missense probably benign 0.00
R2901:Klf12 UTSW 14 99900146 missense probably damaging 0.98
R4946:Klf12 UTSW 14 100022957 missense possibly damaging 0.53
R5386:Klf12 UTSW 14 99900159 missense probably damaging 1.00
R5802:Klf12 UTSW 14 100022894 missense probably benign 0.33
R5903:Klf12 UTSW 14 100022688 missense probably damaging 0.99
R6037:Klf12 UTSW 14 99900214 missense probably benign 0.17
R6037:Klf12 UTSW 14 99900214 missense probably benign 0.17
R6753:Klf12 UTSW 14 100109776 nonsense probably null
Posted On2013-12-09