Incidental Mutation 'IGL01684:Klf7'
ID 103909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf7
Ensembl Gene ENSMUSG00000025959
Gene Name Kruppel-like transcription factor 7 (ubiquitous)
Synonyms 9830124P08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01684
Quality Score
Status
Chromosome 1
Chromosomal Location 64068606-64161441 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 64160051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086] [ENSMUST00000135075]
AlphaFold Q99JB0
Predicted Effect probably benign
Transcript: ENSMUST00000055001
SMART Domains Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
low complexity region 162 194 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
ZnF_C2H2 218 242 3.83e-2 SMART
ZnF_C2H2 248 272 4.94e-5 SMART
ZnF_C2H2 278 300 6.78e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114086
SMART Domains Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
low complexity region 162 194 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
ZnF_C2H2 218 242 3.83e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135075
Coding Region Coverage
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 member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,904,821 (GRCm39) V21F probably damaging Het
Aox1 G A 1: 58,116,740 (GRCm39) probably null Het
BC024139 A G 15: 76,008,885 (GRCm39) L283P probably damaging Het
Cacna1h C T 17: 25,607,690 (GRCm39) G876S probably damaging Het
Ccdc66 T C 14: 27,222,206 (GRCm39) E179G possibly damaging Het
Ckap5 T G 2: 91,385,699 (GRCm39) D182E probably benign Het
Clk1 A G 1: 58,456,424 (GRCm39) probably null Het
Dhx34 G A 7: 15,937,204 (GRCm39) T831M probably damaging Het
Enox1 T C 14: 77,816,533 (GRCm39) I171T possibly damaging Het
Fscn2 G A 11: 120,258,131 (GRCm39) R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 (GRCm39) S460L probably benign Het
Gramd1a A G 7: 30,838,330 (GRCm39) S308P possibly damaging Het
Guca1a T C 17: 47,706,068 (GRCm39) D137G probably null Het
Heatr5a G A 12: 52,002,294 (GRCm39) T214I probably benign Het
Macf1 A G 4: 123,359,723 (GRCm39) S1854P probably damaging Het
Mau2 A T 8: 70,481,895 (GRCm39) probably benign Het
Mdn1 A G 4: 32,726,857 (GRCm39) I2639V probably benign Het
Mylk A G 16: 34,792,310 (GRCm39) M1544V possibly damaging Het
Ogdh G T 11: 6,292,546 (GRCm39) V420L probably damaging Het
Or13a21 T C 7: 139,998,828 (GRCm39) N286S probably damaging Het
Or5b105 A G 19: 13,080,353 (GRCm39) F105S possibly damaging Het
Pcm1 A G 8: 41,710,960 (GRCm39) T77A probably benign Het
Piezo2 T A 18: 63,216,241 (GRCm39) I947F probably damaging Het
Prrc2c A T 1: 162,534,031 (GRCm39) probably benign Het
Ptch2 A G 4: 116,961,984 (GRCm39) E107G probably damaging Het
Rmdn3 T C 2: 118,978,055 (GRCm39) E182G probably damaging Het
Rpl23a-ps3 C T 14: 33,892,745 (GRCm39) noncoding transcript Het
Sorl1 T C 9: 41,892,007 (GRCm39) D1881G probably damaging Het
Tbc1d19 A G 5: 54,014,221 (GRCm39) N283S probably benign Het
Tcf20 A G 15: 82,741,361 (GRCm39) F30S probably damaging Het
Tiparp A T 3: 65,460,754 (GRCm39) K581I probably damaging Het
Tle3 T C 9: 61,310,728 (GRCm39) probably benign Het
Ubr3 C A 2: 69,846,502 (GRCm39) Y1608* probably null Het
Vmn1r59 T C 7: 5,457,299 (GRCm39) T154A probably benign Het
Vta1 A G 10: 14,559,875 (GRCm39) I115T probably damaging Het
Wwtr1 C A 3: 57,483,210 (GRCm39) R31L probably damaging Het
Zfp385b T C 2: 77,550,019 (GRCm39) D22G possibly damaging Het
Zfp516 A G 18: 82,975,326 (GRCm39) E508G probably damaging Het
Zfp735 T A 11: 73,581,191 (GRCm39) V76E possibly damaging Het
Other mutations in Klf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Klf7 APN 1 64,081,476 (GRCm39) missense possibly damaging 0.65
IGL01844:Klf7 APN 1 64,117,933 (GRCm39) missense probably benign 0.02
IGL03181:Klf7 APN 1 64,074,885 (GRCm39) missense possibly damaging 0.88
Esurientes UTSW 1 64,118,372 (GRCm39) missense possibly damaging 0.78
C9142:Klf7 UTSW 1 64,118,316 (GRCm39) missense possibly damaging 0.47
R1736:Klf7 UTSW 1 64,118,372 (GRCm39) missense possibly damaging 0.78
R1737:Klf7 UTSW 1 64,118,372 (GRCm39) missense possibly damaging 0.78
R1744:Klf7 UTSW 1 64,118,372 (GRCm39) missense possibly damaging 0.78
R2048:Klf7 UTSW 1 64,117,913 (GRCm39) missense possibly damaging 0.65
R2891:Klf7 UTSW 1 64,081,521 (GRCm39) missense probably damaging 1.00
R5055:Klf7 UTSW 1 64,118,439 (GRCm39) missense probably benign 0.08
R5613:Klf7 UTSW 1 64,081,555 (GRCm39) missense probably damaging 0.98
R5782:Klf7 UTSW 1 64,081,570 (GRCm39) missense possibly damaging 0.81
R7369:Klf7 UTSW 1 64,160,300 (GRCm39) critical splice acceptor site probably null
R7470:Klf7 UTSW 1 64,081,472 (GRCm39) critical splice donor site probably null
R8501:Klf7 UTSW 1 64,118,322 (GRCm39) missense probably benign
Posted On 2014-01-21