Incidental Mutation 'IGL02380:Klf5'
ID291337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf5
Ensembl Gene ENSMUSG00000005148
Gene NameKruppel-like factor 5
SynonymsIKLF, Bteb2, 4930520J07Rik, CKLF
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02380
Quality Score
Status
Chromosome14
Chromosomal Location99298691-99315036 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99301458 bp
ZygosityHeterozygous
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]
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: 40,994,544 P546T possibly damaging Het
Abca13 T C 11: 9,291,599 I1154T possibly damaging Het
Abca8a A G 11: 110,078,815 probably benign Het
Acsm5 A T 7: 119,537,286 Q360L probably benign Het
Adamtsl5 T C 10: 80,341,778 E350G probably benign Het
Adgrl2 A T 3: 148,828,489 L1017* probably null Het
Aqr T C 2: 114,109,936 D1243G probably damaging Het
Arhgef17 G T 7: 100,929,443 P766Q possibly damaging Het
Bclaf1 T C 10: 20,325,367 V413A possibly damaging Het
Bcr A G 10: 75,175,299 D14G probably benign Het
Cadps2 C T 6: 23,287,732 V1190I probably benign Het
Cdh9 A G 15: 16,856,000 I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 probably null Het
Cnbd1 T A 4: 18,887,749 probably null Het
Col4a3 T C 1: 82,672,788 probably benign Het
Coro1a T A 7: 126,703,116 K20* probably null Het
Crb2 T A 2: 37,783,435 D114E probably damaging Het
Dnah6 C A 6: 73,076,640 K2870N probably benign Het
Fam196a A T 7: 134,899,144 probably null Het
Fpr3 A G 17: 17,970,992 H175R probably benign Het
Gk5 T G 9: 96,150,480 S248A possibly damaging Het
Grm4 T A 17: 27,434,661 I772F probably damaging Het
Gstt4 A G 10: 75,817,239 I163T possibly damaging Het
Hr A G 14: 70,557,761 R278G probably damaging Het
Igfbp5 T A 1: 72,863,949 R156* probably null Het
Ighv1-4 G A 12: 114,487,133 probably benign Het
Kcna2 A C 3: 107,104,958 Q285P probably benign Het
Ldb1 A T 19: 46,034,490 M252K possibly damaging Het
Lrrc66 T C 5: 73,629,666 I114V possibly damaging Het
Map1b A T 13: 99,431,143 I1690N unknown Het
Myo1a A G 10: 127,714,485 T565A probably benign Het
Nt5c T C 11: 115,491,301 D84G possibly damaging Het
Pde1b A G 15: 103,519,990 N51S possibly damaging Het
Pikfyve T A 1: 65,256,021 L1437Q probably damaging Het
Pld5 C T 1: 176,140,044 V82I probably damaging Het
Psmb6 T A 11: 70,525,911 N42K probably benign Het
Slco3a1 G A 7: 74,554,490 S34F probably damaging Het
Slfn9 A G 11: 82,981,220 Y897H probably benign Het
Spag6l T C 16: 16,763,169 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem215 A T 4: 40,474,534 I204F probably benign Het
Txnl1 A G 18: 63,674,043 probably null Het
Ube2q2 T A 9: 55,163,012 D79E probably benign Het
Ugt2a3 T C 5: 87,336,799 D122G probably benign Het
Vmn2r73 A T 7: 85,858,175 I643K probably benign Het
Xkrx T A X: 134,150,639 H421L probably benign Het
Other mutations in Klf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Klf5 APN 14 99301721 missense probably benign 0.01
Bernie UTSW 14 99302230 missense probably damaging 1.00
I0000:Klf5 UTSW 14 99303475 missense probably damaging 1.00
R0133:Klf5 UTSW 14 99301882 missense probably benign
R1672:Klf5 UTSW 14 99301550 missense probably damaging 0.98
R1914:Klf5 UTSW 14 99301921 missense probably benign 0.01
R2193:Klf5 UTSW 14 99298970 unclassified probably benign
R3892:Klf5 UTSW 14 99299073 missense probably benign 0.00
R4446:Klf5 UTSW 14 99302230 missense probably damaging 1.00
R5437:Klf5 UTSW 14 99301459 nonsense probably null
R5707:Klf5 UTSW 14 99301508 missense probably benign
R6475:Klf5 UTSW 14 99301381 missense probably benign 0.00
R6552:Klf5 UTSW 14 99301642 missense probably benign
R6982:Klf5 UTSW 14 99313235 missense probably damaging 1.00
R7250:Klf5 UTSW 14 99299019 missense probably benign 0.00
Posted On2015-04-16