Incidental Mutation 'IGL03004:Klf8'
ID407470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf8
Ensembl Gene ENSMUSG00000041649
Gene NameKruppel-like factor 8
SynonymsBKLF3, A830097P10Rik, ZNF74
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03004
Quality Score
Status
ChromosomeX
Chromosomal Location153237466-153396132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 153382720 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 95 (L95P)
Ref Sequence ENSEMBL: ENSMUSP00000108193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039545] [ENSMUST00000112574]
Predicted Effect probably damaging
Transcript: ENSMUST00000039545
AA Change: L95P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044317
Gene: ENSMUSG00000041649
AA Change: L95P

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: L95P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108193
Gene: ENSMUSG00000041649
AA Change: L95P

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
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 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,965,677 probably benign Het
Atrx A T X: 105,832,509 C78* probably null Het
Birc6 T A 17: 74,612,185 N1999K probably benign Het
Cdc42bpg G A 19: 6,311,383 R313Q probably benign Het
Clip3 A G 7: 30,292,364 Y55C probably damaging Het
Ddit4l A G 3: 137,626,205 N111D probably benign Het
Eprs T G 1: 185,381,833 M326R probably damaging Het
F8 C T X: 75,212,052 G2045D probably damaging Het
Fstl5 A G 3: 76,648,431 probably benign Het
Gm10577 T C 4: 101,020,329 probably benign Het
Heatr6 T C 11: 83,757,379 S133P probably benign Het
Itpr3 T G 17: 27,097,978 F736V possibly damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Map3k12 A G 15: 102,504,196 V247A possibly damaging Het
Obscn A G 11: 59,028,587 Y6211H probably damaging Het
Olfr348 A G 2: 36,787,182 Y219C probably damaging Het
Pip4k2b A G 11: 97,724,474 Y187H probably damaging Het
Rabggta A G 14: 55,719,230 probably benign Het
Ranbp3 T A 17: 56,707,207 V246E probably damaging Het
Rtf1 C A 2: 119,701,273 probably benign Het
Sema3b G A 9: 107,602,915 P208L possibly damaging Het
Smpd1 A G 7: 105,556,674 D416G possibly damaging Het
Spam1 T C 6: 24,796,914 V288A probably damaging Het
Stac A C 9: 111,602,540 S248A probably benign Het
Tmem178b C A 6: 40,245,581 R77S probably damaging Het
Vegfd T C X: 164,402,108 L352P probably benign Het
Vmn1r176 A T 7: 23,835,277 N150K probably damaging Het
Vmn1r230 T C 17: 20,847,510 probably benign Het
Vsig10 A G 5: 117,325,075 Y122C probably damaging Het
Xpo5 T A 17: 46,207,840 V121E probably damaging Het
Zrsr2 T C X: 163,939,401 Q285R probably benign Het
Other mutations in Klf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1463:Klf8 UTSW X 153384681 nonsense probably null
R2869:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2869:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2871:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2871:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2872:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2872:Klf8 UTSW X 153382682 missense probably damaging 1.00
R2874:Klf8 UTSW X 153382682 missense probably damaging 1.00
Posted On2016-08-02