Incidental Mutation 'IGL02380:Klf5'
ID 291337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf5
Ensembl Gene ENSMUSG00000005148
Gene Name Kruppel-like transcription factor 5
Synonyms IKLF, Bteb2, 4930520J07Rik, CKLF
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02380
Quality Score
Status
Chromosome 14
Chromosomal Location 99536127-99550848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99538894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 102 (R102S)
Ref Sequence ENSEMBL: ENSMUSP00000005279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005279] [ENSMUST00000226784]
AlphaFold Q9Z0Z7
Predicted Effect possibly damaging
Transcript: ENSMUST00000005279
AA Change: R102S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005279
Gene: ENSMUSG00000005148
AA Change: R102S

DomainStartEndE-ValueType
low complexity region 53 65 N/A INTRINSIC
low complexity region 166 173 N/A INTRINSIC
low complexity region 290 301 N/A INTRINSIC
ZnF_C2H2 362 386 3.83e-2 SMART
ZnF_C2H2 392 416 2.47e-5 SMART
ZnF_C2H2 422 444 1.2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000226784
AA Change: R22S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
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 factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice die during gestation, while heterozygotes exhibit abnormal cardiovascular remodeling after external stress. Mice homozygous for a floxed allele activated in the prostate exhibit increased cell proliferation and hyperplasia in the prostate without neoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Hr A G 14: 70,795,201 (GRCm39) R278G probably damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Ighv1-4 G A 12: 114,450,753 (GRCm39) probably benign Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Nt5c T C 11: 115,382,127 (GRCm39) D84G possibly damaging Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slco3a1 G A 7: 74,204,238 (GRCm39) S34F probably damaging Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Xkrx T A X: 133,051,388 (GRCm39) H421L probably benign Het
Other mutations in Klf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Klf5 APN 14 99,539,157 (GRCm39) missense probably benign 0.01
Bernie UTSW 14 99,539,666 (GRCm39) missense probably damaging 1.00
I0000:Klf5 UTSW 14 99,540,911 (GRCm39) missense probably damaging 1.00
R0133:Klf5 UTSW 14 99,539,318 (GRCm39) missense probably benign
R1672:Klf5 UTSW 14 99,538,986 (GRCm39) missense probably damaging 0.98
R1914:Klf5 UTSW 14 99,539,357 (GRCm39) missense probably benign 0.01
R2193:Klf5 UTSW 14 99,536,406 (GRCm39) unclassified probably benign
R3892:Klf5 UTSW 14 99,536,509 (GRCm39) missense probably benign 0.00
R4446:Klf5 UTSW 14 99,539,666 (GRCm39) missense probably damaging 1.00
R5437:Klf5 UTSW 14 99,538,895 (GRCm39) nonsense probably null
R5707:Klf5 UTSW 14 99,538,944 (GRCm39) missense probably benign
R6475:Klf5 UTSW 14 99,538,817 (GRCm39) missense probably benign 0.00
R6552:Klf5 UTSW 14 99,539,078 (GRCm39) missense probably benign
R6982:Klf5 UTSW 14 99,550,671 (GRCm39) missense probably damaging 1.00
R7250:Klf5 UTSW 14 99,536,455 (GRCm39) missense probably benign 0.00
R7643:Klf5 UTSW 14 99,550,614 (GRCm39) missense possibly damaging 0.88
R7938:Klf5 UTSW 14 99,536,444 (GRCm39) missense probably damaging 0.98
R8272:Klf5 UTSW 14 99,539,540 (GRCm39) missense possibly damaging 0.67
R8396:Klf5 UTSW 14 99,539,670 (GRCm39) missense possibly damaging 0.95
R8898:Klf5 UTSW 14 99,538,922 (GRCm39) missense probably damaging 0.99
R9015:Klf5 UTSW 14 99,540,919 (GRCm39) makesense probably null
R9251:Klf5 UTSW 14 99,538,824 (GRCm39) missense possibly damaging 0.95
R9560:Klf5 UTSW 14 99,539,034 (GRCm39) missense probably benign 0.06
R9717:Klf5 UTSW 14 99,539,189 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16