Incidental Mutation 'IGL00819:Klf7'
ID 11648
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 # IGL00819
Quality Score
Status
Chromosome 1
Chromosomal Location 64068606-64161441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64081476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 284 (D284G)
Ref Sequence ENSEMBL: ENSMUSP00000109720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086]
AlphaFold Q99JB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000055001
AA Change: D284G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: D284G

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 possibly damaging
Transcript: ENSMUST00000114086
AA Change: D284G

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: D284G

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 noncoding transcript
Transcript: ENSMUST00000184798
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,590,350 (GRCm39) probably null Het
Apaf1 G T 10: 90,833,202 (GRCm39) probably null Het
Ash1l T A 3: 88,915,043 (GRCm39) V1891E possibly damaging Het
Atm A G 9: 53,429,831 (GRCm39) S402P probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccdc150 T A 1: 54,302,732 (GRCm39) N117K probably damaging Het
Ccl7 A G 11: 81,937,401 (GRCm39) N45S probably benign Het
Dnah2 A T 11: 69,364,176 (GRCm39) probably null Het
Efcab6 A G 15: 83,902,843 (GRCm39) I169T probably benign Het
Exo1 T C 1: 175,723,803 (GRCm39) V383A probably benign Het
Fbxl2 A G 9: 113,813,047 (GRCm39) probably benign Het
Fryl A T 5: 73,305,451 (GRCm39) V106D possibly damaging Het
Fsip1 C A 2: 118,080,393 (GRCm39) R121L possibly damaging Het
Igsf9 T C 1: 172,324,203 (GRCm39) S789P probably benign Het
Mbtd1 A G 11: 93,822,637 (GRCm39) probably null Het
Mef2c A T 13: 83,773,499 (GRCm39) D125V probably damaging Het
Nectin4 T C 1: 171,212,254 (GRCm39) L284S probably damaging Het
Numa1 G T 7: 101,641,917 (GRCm39) G122W possibly damaging Het
Pcbd1 A C 10: 60,927,919 (GRCm39) E27A probably benign Het
Pclo A G 5: 14,908,860 (GRCm39) N5056S unknown Het
Pelp1 G A 11: 70,285,444 (GRCm39) P808L unknown Het
Ppp1r12a T C 10: 108,076,682 (GRCm39) S304P probably damaging Het
Ppp1r7 T A 1: 93,273,978 (GRCm39) D51E probably benign Het
Rassf6 T C 5: 90,751,930 (GRCm39) K308E probably benign Het
Rel A T 11: 23,693,029 (GRCm39) F335I probably benign Het
Scnn1g A G 7: 121,339,660 (GRCm39) E153G probably benign Het
Slc2a5 T C 4: 150,210,113 (GRCm39) Y33H probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Tpra1 T A 6: 88,886,318 (GRCm39) Y65* probably null Het
Trip12 C T 1: 84,731,993 (GRCm39) G994S probably damaging Het
Trnt1 T A 6: 106,753,183 (GRCm39) Y195* probably null Het
Ttn A G 2: 76,573,394 (GRCm39) I17506T probably damaging Het
Ubr4 C T 4: 139,203,593 (GRCm39) T4761I possibly damaging Het
Vmn1r204 T A 13: 22,741,117 (GRCm39) Y249* probably null Het
Zfp212 C T 6: 47,908,256 (GRCm39) P412S probably damaging Het
Zhx1 A G 15: 57,918,090 (GRCm39) V52A probably benign Het
Zpbp2 A T 11: 98,448,418 (GRCm39) H245L probably damaging Het
Other mutations in Klf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Klf7 APN 1 64,160,051 (GRCm39) splice site probably benign
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 2012-12-06