Incidental Mutation 'IGL01295:Klf5'
ID73044
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 #IGL01295
Quality Score
Status
Chromosome14
Chromosomal Location99298691-99315036 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99301721 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 110 (T110I)
Ref Sequence ENSEMBL: ENSMUSP00000154786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005279] [ENSMUST00000226784]
Predicted Effect probably benign
Transcript: ENSMUST00000005279
AA Change: T190I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000005279
Gene: ENSMUSG00000005148
AA Change: T190I

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 probably benign
Transcript: ENSMUST00000226784
AA Change: T110I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,661,936 L691I possibly damaging Het
Ano7 A G 1: 93,380,478 D77G probably benign Het
Apol10b A T 15: 77,585,596 V127E probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Atn1 T C 6: 124,749,276 E80G probably damaging Het
Carmil2 T C 8: 105,695,516 M1139T probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Celf5 G T 10: 81,467,080 probably benign Het
Chd6 G A 2: 160,988,370 probably benign Het
Col12a1 A T 9: 79,643,926 V2136E probably damaging Het
Col4a1 G T 8: 11,236,075 probably benign Het
Dph1 A G 11: 75,180,949 probably benign Het
Dvl2 G T 11: 70,009,584 V735F possibly damaging Het
Eif3b A G 5: 140,441,740 I709V possibly damaging Het
Elp5 C T 11: 69,968,470 probably benign Het
Exd1 A T 2: 119,530,079 probably benign Het
Fbxl4 C A 4: 22,427,348 R530S probably benign Het
Fmo4 A T 1: 162,799,124 D284E probably damaging Het
Fn3krp A G 11: 121,421,554 Y31C probably damaging Het
Galnt14 G T 17: 73,504,919 Q436K probably benign Het
Gm5114 A T 7: 39,407,817 W793R probably damaging Het
Gm9376 T G 14: 118,267,647 S164A possibly damaging Het
Gtf2ird2 G A 5: 134,192,764 D69N probably damaging Het
Hfm1 A C 5: 106,917,606 M69R possibly damaging Het
Ighv9-1 A C 12: 114,093,999 S94A probably damaging Het
Ikzf2 C T 1: 69,577,987 R67H probably benign Het
Ipcef1 A T 10: 6,900,642 F316L probably damaging Het
Kdsr A G 1: 106,755,457 V62A possibly damaging Het
Kif23 A T 9: 61,932,129 C279S possibly damaging Het
Klhl25 T A 7: 75,865,872 H175Q probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Nfatc4 T C 14: 55,832,505 V710A probably benign Het
Olfr1404 A T 1: 173,215,873 Y74F probably damaging Het
Olfr68 C T 7: 103,778,241 V35I probably benign Het
Optn G A 2: 5,033,156 T409I possibly damaging Het
Pabpc2 T A 18: 39,774,029 Y116N probably damaging Het
Pafah1b1 G T 11: 74,683,647 R238S probably damaging Het
Pdzd9 C T 7: 120,668,395 G66R probably damaging Het
Pih1d1 T C 7: 45,159,964 L285P probably damaging Het
Pirb G A 7: 3,717,406 P323S probably damaging Het
Pkd1l1 A G 11: 8,933,685 F396L possibly damaging Het
Pla2g4d G A 2: 120,281,726 T108M probably damaging Het
Plin3 T C 17: 56,279,814 Y411C probably damaging Het
Ppfibp2 T C 7: 107,747,539 probably benign Het
Prrc2c T C 1: 162,682,492 S995G probably damaging Het
Ptf1a T C 2: 19,446,618 I253T probably damaging Het
Ptprb A G 10: 116,362,648 I1684V probably benign Het
Ptprk G A 10: 28,475,178 V556I probably benign Het
Rffl A T 11: 82,818,457 C47S probably damaging Het
Rnf17 C T 14: 56,463,064 Q569* probably null Het
Shprh A G 10: 11,183,868 E1121G probably damaging Het
Slc1a5 A G 7: 16,795,862 D402G probably damaging Het
Slc24a3 G A 2: 145,616,714 probably null Het
Slc2a13 T A 15: 91,350,132 probably null Het
Slc30a8 A T 15: 52,306,559 N61Y possibly damaging Het
Slitrk6 A T 14: 110,751,436 S280T possibly damaging Het
Smad2 G A 18: 76,302,430 A365T probably benign Het
Tcp10b C T 17: 13,080,160 P367S probably damaging Het
Tdp1 A G 12: 99,891,670 N163D probably benign Het
Thbs1 A G 2: 118,118,327 D488G possibly damaging Het
Trappc12 C T 12: 28,746,762 S257N probably damaging Het
Treml1 T C 17: 48,365,599 probably benign Het
Ugt2b36 A G 5: 87,080,885 V234A probably damaging Het
Vmn2r86 T G 10: 130,453,026 H202P probably damaging Het
Vmn2r87 C A 10: 130,472,009 V787F probably damaging Het
Wbp2nl T A 15: 82,306,418 M129K probably damaging Het
Zdhhc15 T C X: 104,544,913 probably null Het
Other mutations in Klf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Klf5 APN 14 99301458 missense possibly damaging 0.67
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
R7643:Klf5 UTSW 14 99313178 missense possibly damaging 0.88
Posted On2013-10-07