Incidental Mutation 'R4949:Klf6'
Institutional Source Beutler Lab
Gene Symbol Klf6
Ensembl Gene ENSMUSG00000000078
Gene NameKruppel-like factor 6
SynonymsBCD1, Copeb, FM6, Zf9, Ierepo3, CPBP, FM2, Ierepo1
MMRRC Submission 042546-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4949 (G1)
Quality Score225
Status Not validated
Chromosomal Location5861482-5870394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5864948 bp
Amino Acid Change Serine to Cysteine at position 129 (S129C)
Ref Sequence ENSEMBL: ENSMUSP00000000080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000080] [ENSMUST00000222857]
Predicted Effect probably benign
Transcript: ENSMUST00000000080
AA Change: S129C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000000080
Gene: ENSMUSG00000000078
AA Change: S129C

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,109,706 S258R probably damaging Het
Acox3 T C 5: 35,612,106 V692A probably benign Het
Bcl2l13 G T 6: 120,887,230 G382W probably damaging Het
Cdhr5 T A 7: 141,272,644 N353I probably damaging Het
Chil4 A G 3: 106,206,092 S170P possibly damaging Het
Clp1 A C 2: 84,723,742 M361R possibly damaging Het
Cylc2 A G 4: 51,229,804 K382R unknown Het
Dsg2 T A 18: 20,590,184 D422E probably damaging Het
Dync1h1 C A 12: 110,658,126 T3700N probably damaging Het
Gm14295 A C 2: 176,809,676 T320P probably damaging Het
Ido2 T G 8: 24,533,954 probably null Het
Ift140 T A 17: 25,094,665 S1357T probably benign Het
Insr T G 8: 3,185,059 E145A probably benign Het
Itpripl1 A G 2: 127,141,407 M265T probably benign Het
Kcnb1 G T 2: 167,105,601 N442K probably damaging Het
Kifc5b C A 17: 26,925,514 R536S probably damaging Het
Lpin2 C G 17: 71,231,339 P327A probably damaging Het
Lsm1 T C 8: 25,802,037 V114A probably benign Het
Map7d1 C T 4: 126,235,053 W218* probably null Het
N4bp2 T A 5: 65,821,799 probably null Het
Rheb A T 5: 24,803,731 I163K possibly damaging Het
Rph3a T C 5: 120,963,834 D113G probably damaging Het
Scn8a A G 15: 101,029,782 N1381D probably damaging Het
Sdsl T A 5: 120,459,805 N208Y possibly damaging Het
Serpinb9e A G 13: 33,251,608 N8S possibly damaging Het
Sox18 G A 2: 181,671,224 Q100* probably null Het
Taar8b C T 10: 24,091,927 C123Y probably damaging Het
Tas2r124 A G 6: 132,754,895 I56V possibly damaging Het
Tes C A 6: 17,100,360 H331N probably benign Het
Tmbim1 T G 1: 74,295,365 D12A probably damaging Het
Tmprss4 T C 9: 45,175,543 I307V possibly damaging Het
Ttll1 A T 15: 83,502,173 M77K probably null Het
Ttpal G A 2: 163,613,751 R220Q probably damaging Het
Vmn1r230 T A 17: 20,847,363 H271Q probably benign Het
Vmn2r32 A G 7: 7,464,084 I815T probably benign Het
Other mutations in Klf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Klf6 APN 13 5861681 missense probably benign 0.02
IGL01714:Klf6 APN 13 5866659 missense probably benign 0.25
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
Z1177:Klf6 UTSW 13 5864882 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-04-27