Incidental Mutation 'IGL01714:Klf6'
ID104889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf6
Ensembl Gene ENSMUSG00000000078
Gene NameKruppel-like factor 6
SynonymsBCD1, Copeb, FM6, Zf9, Ierepo3, CPBP, FM2, Ierepo1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01714
Quality Score
Status
Chromosome13
Chromosomal Location5861482-5870394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5866659 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000000080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000080] [ENSMUST00000222857]
Predicted Effect probably benign
Transcript: ENSMUST00000000080
AA Change: S268P

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000080
Gene: ENSMUSG00000000078
AA Change: S268P

DomainStartEndE-ValueType
low complexity region 107 129 N/A INTRINSIC
low complexity region 137 155 N/A INTRINSIC
low complexity region 168 187 N/A INTRINSIC
ZnF_C2H2 235 259 1.08e-1 SMART
ZnF_C2H2 265 289 1.13e-4 SMART
ZnF_C2H2 295 317 6.32e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221734
Predicted Effect probably benign
Transcript: ENSMUST00000222857
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, small size, pallor, decreased cellular proliferation and delayed liver development. Mice heterozygous for a null allele exhibit delays in embryonic hematopoeisis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,569 probably null Het
Acvrl1 T A 15: 101,137,370 I259N probably damaging Het
Ahctf1 A G 1: 179,795,877 S59P probably damaging Het
Bcas1 T C 2: 170,384,182 probably benign Het
Ccdc33 T C 9: 58,029,870 N682S possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Cntn1 T A 15: 92,253,989 C436* probably null Het
Cyp2d40 T G 15: 82,761,240 D142A possibly damaging Het
Dnhd1 C T 7: 105,720,942 L4525F probably damaging Het
Drosha A G 15: 12,878,784 Y732C probably damaging Het
Edn1 A G 13: 42,305,014 N101S probably benign Het
Faxc C T 4: 21,936,688 P108S probably damaging Het
Glb1l2 C T 9: 26,768,418 probably null Het
Gm20498 A G 12: 81,510,890 I47T probably damaging Het
Gm4952 G T 19: 12,624,711 R161L probably benign Het
Hipk2 A T 6: 38,819,182 Y51N probably damaging Het
Id4 T G 13: 48,261,790 I98S probably damaging Het
Kmt2c G T 5: 25,313,400 T2427N probably benign Het
Lrp3 T G 7: 35,206,071 probably null Het
Lrrc66 A G 5: 73,629,977 I10T probably benign Het
Mapkap1 T G 2: 34,518,843 V281G probably damaging Het
Ncor1 T A 11: 62,334,584 I1054F possibly damaging Het
Olfr1061 T C 2: 86,413,800 N84S probably benign Het
Ppp1r9b C A 11: 95,005,354 T817N probably damaging Het
Prkd2 T A 7: 16,863,942 I659N probably damaging Het
Radil T C 5: 142,543,397 probably benign Het
Smarcd1 C T 15: 99,712,421 T474I probably damaging Het
Srd5a1 C T 13: 69,611,062 W62* probably null Het
St5 A G 7: 109,570,062 S9P probably damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Ttn T A 2: 76,857,179 probably benign Het
Vmn1r77 A T 7: 12,041,350 I18F probably benign Het
Xrcc5 A T 1: 72,329,984 K332N probably damaging Het
Other mutations in Klf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Klf6 APN 13 5861681 missense probably benign 0.02
IGL02606:Klf6 APN 13 5866735 missense probably damaging 1.00
H8786:Klf6 UTSW 13 5861791 missense probably damaging 0.98
R0689:Klf6 UTSW 13 5865116 missense probably damaging 1.00
R1174:Klf6 UTSW 13 5861712 missense probably benign 0.06
R1175:Klf6 UTSW 13 5861712 missense probably benign 0.06
R4706:Klf6 UTSW 13 5861640 start codon destroyed probably null 0.66
R4949:Klf6 UTSW 13 5864948 missense probably benign 0.01
Posted On2014-01-21