Incidental Mutation 'IGL00952:Klf6'
ID 28878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf6
Ensembl Gene ENSMUSG00000000078
Gene Name Kruppel-like transcription factor 6
Synonyms FM6, Ierepo1, Copeb, FM2, CPBP, BCD1, Ierepo3, Zf9
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00952
Quality Score
Status
Chromosome 13
Chromosomal Location 5911488-5920392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5911680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 15 (T15A)
Ref Sequence ENSEMBL: ENSMUSP00000152088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000080] [ENSMUST00000222857]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000080
AA Change: T15A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000080
Gene: ENSMUSG00000000078
AA Change: T15A

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: ENSMUST00000186819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221734
Predicted Effect probably benign
Transcript: ENSMUST00000222857
AA Change: T15A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223142
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Klf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Klf6 APN 13 5,916,658 (GRCm39) missense probably benign 0.25
IGL02606:Klf6 APN 13 5,916,734 (GRCm39) missense probably damaging 1.00
H8786:Klf6 UTSW 13 5,911,790 (GRCm39) missense probably damaging 0.98
R0689:Klf6 UTSW 13 5,915,115 (GRCm39) missense probably damaging 1.00
R1174:Klf6 UTSW 13 5,911,711 (GRCm39) missense probably benign 0.06
R1175:Klf6 UTSW 13 5,911,711 (GRCm39) missense probably benign 0.06
R4706:Klf6 UTSW 13 5,911,639 (GRCm39) start codon destroyed probably null 0.66
R4949:Klf6 UTSW 13 5,914,947 (GRCm39) missense probably benign 0.01
R7982:Klf6 UTSW 13 5,911,822 (GRCm39) missense probably damaging 0.99
R8781:Klf6 UTSW 13 5,915,071 (GRCm39) missense probably benign 0.00
R9021:Klf6 UTSW 13 5,915,160 (GRCm39) missense probably benign 0.02
R9072:Klf6 UTSW 13 5,917,233 (GRCm39) missense probably benign 0.28
Z1177:Klf6 UTSW 13 5,914,881 (GRCm39) nonsense probably null
Posted On 2013-04-17