Incidental Mutation 'R6560:Klf9'
ID 522046
Institutional Source Beutler Lab
Gene Symbol Klf9
Ensembl Gene ENSMUSG00000033863
Gene Name Kruppel-like transcription factor 9
Synonyms 2310051E17Rik, BTEB-1, Klf9, Bteb1
MMRRC Submission 044684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 23118590-23145493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23119314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 66 (S66G)
Ref Sequence ENSEMBL: ENSMUSP00000045639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036884]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036884
AA Change: S66G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045639
Gene: ENSMUSG00000033863
AA Change: S66G

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 102 113 N/A INTRINSIC
ZnF_C2H2 143 167 1.04e-3 SMART
ZnF_C2H2 173 197 7.37e-4 SMART
ZnF_C2H2 203 225 3.16e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display only mild neurological defects evident by impaired performance in rotarod and contextual fear-conditioning tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,843,230 (GRCm39) L1235Q probably damaging Het
Acin1 T C 14: 54,916,290 (GRCm39) T174A probably benign Het
Adamtsl1 G A 4: 86,255,130 (GRCm39) R733H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arsk A T 13: 76,223,105 (GRCm39) I164N probably benign Het
Bbs5 T A 2: 69,487,300 (GRCm39) N194K probably damaging Het
Bicra T C 7: 15,723,119 (GRCm39) T133A possibly damaging Het
Card6 G A 15: 5,128,367 (GRCm39) P1010S probably damaging Het
Ccdc18 T A 5: 108,339,790 (GRCm39) N778K probably benign Het
Cept1 T C 3: 106,412,594 (GRCm39) I240V possibly damaging Het
Crip3 A G 17: 46,741,962 (GRCm39) R150G probably damaging Het
Cyp2c50 A G 19: 40,085,299 (GRCm39) T320A probably benign Het
Dio2 G C 12: 90,696,607 (GRCm39) S127* probably null Het
Dnai3 T C 3: 145,801,161 (GRCm39) E99G possibly damaging Het
Dscam T C 16: 96,626,935 (GRCm39) S325G probably benign Het
Exosc4 A G 15: 76,211,813 (GRCm39) I41V probably benign Het
Glb1l3 C T 9: 26,739,720 (GRCm39) probably null Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm3072 T A 14: 41,345,510 (GRCm39) D89V unknown Het
Gosr2 T C 11: 103,577,508 (GRCm39) H79R probably damaging Het
Has2 T A 15: 56,531,660 (GRCm39) T352S probably damaging Het
Insig1 T A 5: 28,276,531 (GRCm39) C32* probably null Het
Mfn1 T C 3: 32,623,665 (GRCm39) I263T probably damaging Het
Myl2 G A 5: 122,240,834 (GRCm39) G38R probably null Het
Negr1 A G 3: 157,018,494 (GRCm39) T332A probably benign Het
Neo1 A G 9: 58,787,884 (GRCm39) S1417P possibly damaging Het
Or52ab4 T C 7: 102,987,945 (GRCm39) F228S probably benign Het
Or7e168 G A 9: 19,720,412 (GRCm39) S266N probably benign Het
Pcgf3 C A 5: 108,621,768 (GRCm39) H35Q probably damaging Het
Plppr5 A G 3: 117,465,639 (GRCm39) I297V probably benign Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Prx A T 7: 27,214,746 (GRCm39) Q85H probably damaging Het
Tex14 T G 11: 87,388,688 (GRCm39) M305R possibly damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Zfp619 G A 7: 39,186,954 (GRCm39) E995K probably damaging Het
Zfp90 A G 8: 107,142,379 (GRCm39) R4G probably damaging Het
Other mutations in Klf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02878:Klf9 APN 19 23,119,633 (GRCm39) splice site probably benign
R0399:Klf9 UTSW 19 23,119,446 (GRCm39) missense probably damaging 0.96
R0528:Klf9 UTSW 19 23,119,498 (GRCm39) missense probably benign 0.00
R1883:Klf9 UTSW 19 23,142,101 (GRCm39) missense probably damaging 1.00
R2113:Klf9 UTSW 19 23,142,052 (GRCm39) missense probably damaging 1.00
R5642:Klf9 UTSW 19 23,119,246 (GRCm39) missense probably benign
R6352:Klf9 UTSW 19 23,119,138 (GRCm39) missense probably benign 0.06
R6618:Klf9 UTSW 19 23,142,235 (GRCm39) missense probably benign 0.11
X0067:Klf9 UTSW 19 23,142,128 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACATGGACTTCGTGGCTGC -3'
(R):5'- CTTTCCCACAGCCACTGTAG -3'

Sequencing Primer
(F):5'- TTCGTGGCTGCCCAGTGTC -3'
(R):5'- AGGCGTGTTTCCCCTTCGAAG -3'
Posted On 2018-06-06