Incidental Mutation 'R2869:Klf8'
ID 253498
Institutional Source Beutler Lab
Gene Symbol Klf8
Ensembl Gene ENSMUSG00000041649
Gene Name Kruppel-like transcription factor 8
Synonyms BKLF3, A830097P10Rik, ZNF74
MMRRC Submission 040457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2869 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 152020462-152179128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152165678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 82 (E82D)
Ref Sequence ENSEMBL: ENSMUSP00000108193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039545] [ENSMUST00000112574]
AlphaFold Q8BLM0
Predicted Effect probably damaging
Transcript: ENSMUST00000039545
AA Change: E82D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044317
Gene: ENSMUSG00000041649
AA Change: E82D

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
ZnF_C2H2 270 294 1.26e-2 SMART
ZnF_C2H2 300 324 9.22e-5 SMART
ZnF_C2H2 330 352 5.5e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112574
AA Change: E82D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108193
Gene: ENSMUSG00000041649
AA Change: E82D

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
ZnF_C2H2 270 294 1.26e-2 SMART
ZnF_C2H2 300 324 9.22e-5 SMART
ZnF_C2H2 330 352 5.5e-3 SMART
Meta Mutation Damage Score 0.0904 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.4%
  • 10x: 93.9%
  • 20x: 77.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: A subset of male chimeras hemizygous for a gene trapped allele exhibit embryonic growth retardation. Mice heterozygous and homozygous for a gene trap allele exhibit premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ccl27a C T 4: 41,769,640 (GRCm39) R73Q probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Ch25h T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Ggt6 A T 11: 72,328,187 (GRCm39) N229I probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gsdme A T 6: 50,185,157 (GRCm39) C432* probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kcnb1 A G 2: 166,947,855 (GRCm39) L331P probably damaging Het
Krt13 A G 11: 100,008,475 (GRCm39) S421P unknown Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lzts2 C A 19: 45,012,534 (GRCm39) S321* probably null Het
Meikin T C 11: 54,264,333 (GRCm39) V103A possibly damaging Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbn T A 4: 15,963,810 (GRCm39) D70E probably damaging Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nwd2 A T 5: 63,957,671 (GRCm39) I334L probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or4k2 T C 14: 50,423,811 (GRCm39) T288A probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Serinc2 A G 4: 130,159,005 (GRCm39) S29P probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tprg1 T C 16: 25,231,590 (GRCm39) W189R probably damaging Het
Trim32 A G 4: 65,532,694 (GRCm39) D417G probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Other mutations in Klf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03004:Klf8 APN X 152,165,716 (GRCm39) missense probably damaging 1.00
R1463:Klf8 UTSW X 152,167,677 (GRCm39) nonsense probably null
R2869:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
R2871:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
R2871:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
R2872:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
R2872:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
R2874:Klf8 UTSW X 152,165,678 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTTTAGGTCACTGGCCC -3'
(R):5'- ACATGTAAAATCGGCTGGCC -3'

Sequencing Primer
(F):5'- CCTGTTCCGACCAGAGATCC -3'
(R):5'- AGGCCAGGATAGAGCCC -3'
Posted On 2014-12-04