Incidental Mutation 'R6552:Klf5'
ID 521738
Institutional Source Beutler Lab
Gene Symbol Klf5
Ensembl Gene ENSMUSG00000005148
Gene Name Kruppel-like transcription factor 5
Synonyms IKLF, Bteb2, 4930520J07Rik, CKLF
MMRRC Submission 044677-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 99536127-99550848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99539078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 84 (S84P)
Ref Sequence ENSEMBL: ENSMUSP00000154786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005279] [ENSMUST00000226784]
AlphaFold Q9Z0Z7
Predicted Effect probably benign
Transcript: ENSMUST00000005279
AA Change: S164P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005279
Gene: ENSMUSG00000005148
AA Change: S164P

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: S84P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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
Ang5 A T 14: 44,200,254 (GRCm39) H106L probably benign Het
Arsk A G 13: 76,220,315 (GRCm39) Y260H probably damaging Het
Atxn2l C T 7: 126,092,993 (GRCm39) V833M possibly damaging Het
Bpifa6 G A 2: 153,829,078 (GRCm39) D202N probably damaging Het
Ccdc103 A G 11: 102,774,970 (GRCm39) S190G probably benign Het
Col6a6 C T 9: 105,576,112 (GRCm39) V2083I probably damaging Het
Creb5 A G 6: 53,662,369 (GRCm39) D222G probably damaging Het
Cyp7a1 C T 4: 6,272,361 (GRCm39) W284* probably null Het
Dnmt3a T C 12: 3,957,623 (GRCm39) V868A probably damaging Het
Efr3a A G 15: 65,729,339 (GRCm39) D680G possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l4a A G 18: 34,012,032 (GRCm39) Y163H probably damaging Het
Gabra1 A T 11: 42,037,926 (GRCm39) S231T probably damaging Het
Golga4 T A 9: 118,343,299 (GRCm39) F42I probably damaging Het
Greb1l G A 18: 10,541,814 (GRCm39) S1187N probably benign Het
Haspin A G 11: 73,028,390 (GRCm39) V233A probably benign Het
Il34 T A 8: 111,469,059 (GRCm39) K187I probably benign Het
Kcnn2 A G 18: 45,693,165 (GRCm39) H247R probably benign Het
Lama5 G T 2: 179,822,947 (GRCm39) P2773Q probably damaging Het
Lcat T C 8: 106,666,311 (GRCm39) M404V possibly damaging Het
Lrp6 A T 6: 134,431,692 (GRCm39) S1473T probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mn1 T C 5: 111,568,753 (GRCm39) S908P possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2ag13 TGAAGCC T 7: 106,313,850 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,429,046 (GRCm39) M340L probably benign Het
Pex1 G A 5: 3,673,953 (GRCm39) E748K probably damaging Het
Qrich1 T C 9: 108,411,504 (GRCm39) V343A possibly damaging Het
Rho A G 6: 115,908,709 (GRCm39) probably null Het
Sdhaf4 C A 1: 24,044,687 (GRCm39) probably benign Het
Sec24d A G 3: 123,084,201 (GRCm39) I127V probably benign Het
Siae T C 9: 37,557,696 (GRCm39) V501A possibly damaging Het
Skint3 T C 4: 112,147,482 (GRCm39) Y402H possibly damaging Het
Skint6 A C 4: 112,924,687 (GRCm39) V515G possibly damaging Het
Slc23a1 C A 18: 35,755,391 (GRCm39) G475C probably damaging Het
Smad9 A G 3: 54,690,167 (GRCm39) Y129C probably damaging Het
Snw1 A G 12: 87,506,189 (GRCm39) probably null Het
Spice1 A G 16: 44,199,396 (GRCm39) D616G possibly damaging Het
Stam2 T C 2: 52,598,239 (GRCm39) probably null Het
Sumo3 G T 10: 77,442,091 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,015 (GRCm39) N204K possibly damaging Het
Tmem200a T C 10: 25,869,381 (GRCm39) N296S probably damaging Het
Ttbk1 G T 17: 46,789,888 (GRCm39) T125N probably benign Het
Ubr2 G T 17: 47,277,194 (GRCm39) probably null Het
Vmn1r80 C T 7: 11,927,684 (GRCm39) L265F probably damaging Het
Vwa8 A T 14: 79,435,662 (GRCm39) T1791S possibly damaging Het
Other mutations in Klf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Klf5 APN 14 99,539,157 (GRCm39) missense probably benign 0.01
IGL02380:Klf5 APN 14 99,538,894 (GRCm39) missense possibly damaging 0.67
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
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
Predicted Primers PCR Primer
(F):5'- ATAGACGAGACAGTGCCTCAGTG -3'
(R):5'- ACTGGGCATGTCTAGATCCG -3'

Sequencing Primer
(F):5'- ACAGTGCCTCAGTGGTAGAC -3'
(R):5'- GCATGTCTAGATCCGGTGTATTCAAC -3'
Posted On 2018-06-06