Incidental Mutation 'R8501:Klf7'
ID 655305
Institutional Source Beutler Lab
Gene Symbol Klf7
Ensembl Gene ENSMUSG00000025959
Gene Name Kruppel-like transcription factor 7 (ubiquitous)
Synonyms 9830124P08Rik
MMRRC Submission 067838-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8501 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 64068606-64161441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64118322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 92 (S92G)
Ref Sequence ENSEMBL: ENSMUSP00000109720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086] [ENSMUST00000135075]
AlphaFold Q99JB0
Predicted Effect probably benign
Transcript: ENSMUST00000055001
AA Change: S92G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: S92G

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
AA Change: S92G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: S92G

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
AA Change: S92G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,844,724 (GRCm39) V98M probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Atg2a T C 19: 6,304,420 (GRCm39) S1146P probably damaging Het
Atg3 C A 16: 45,003,294 (GRCm39) D207E probably damaging Het
Atp8b3 A G 10: 80,355,980 (GRCm39) V1244A probably benign Het
Cacna1i T C 15: 80,266,247 (GRCm39) probably null Het
Ccdc171 G T 4: 83,581,895 (GRCm39) E675* probably null Het
Cep68 A T 11: 20,189,132 (GRCm39) S627T unknown Het
Chrnd T C 1: 87,120,338 (GRCm39) W165R probably damaging Het
Col6a2 G T 10: 76,439,391 (GRCm39) A791D probably damaging Het
Dlg2 C A 7: 92,024,930 (GRCm39) S598R probably damaging Het
Elfn2 G T 15: 78,558,500 (GRCm39) Q16K probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Grm8 A T 6: 27,618,540 (GRCm39) M434K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf2 G C 7: 142,207,779 (GRCm39) P106R probably damaging Het
Mme T A 3: 63,234,156 (GRCm39) M73K probably damaging Het
Musk G C 4: 58,367,502 (GRCm39) K588N probably damaging Het
Naa30 C A 14: 49,410,353 (GRCm39) H94N possibly damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nfya A G 17: 48,706,017 (GRCm39) L52P unknown Het
Or14j5 A G 17: 38,161,756 (GRCm39) Y91C probably damaging Het
Or1j17 A G 2: 36,578,809 (GRCm39) N265S probably benign Het
Or51b6 T A 7: 103,555,818 (GRCm39) H54Q Het
Otogl A T 10: 107,626,421 (GRCm39) M1481K probably benign Het
P4ha3 A G 7: 99,962,562 (GRCm39) D440G probably damaging Het
Pcdhb13 A T 18: 37,577,493 (GRCm39) T624S probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Piezo2 A G 18: 63,178,611 (GRCm39) Y1769H probably damaging Het
Plekha6 T A 1: 133,215,575 (GRCm39) V913E probably benign Het
Rapgefl1 A G 11: 98,733,053 (GRCm39) E211G possibly damaging Het
Rcc2 T C 4: 140,443,237 (GRCm39) L305P probably damaging Het
Rgs3 G T 4: 62,521,193 (GRCm39) V47F possibly damaging Het
Scly A G 1: 91,246,798 (GRCm39) S370G probably damaging Het
Setmar T A 6: 108,052,822 (GRCm39) D105E probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Sp140 A T 1: 85,569,461 (GRCm39) N357I probably damaging Het
Trim30c G C 7: 104,036,677 (GRCm39) T227R probably benign Het
Unc79 G A 12: 103,058,897 (GRCm39) V1014I probably damaging Het
Vmn1r151 A T 7: 22,199,034 (GRCm39) F24I probably damaging Het
Vmn2r78 T C 7: 86,570,094 (GRCm39) V204A probably damaging Het
Vps13a T C 19: 16,659,484 (GRCm39) D1681G probably benign Het
Vwa2 T C 19: 56,897,414 (GRCm39) V573A probably benign Het
Wfdc2 A G 2: 164,405,279 (GRCm39) D44G probably damaging Het
Zfp40 T A 17: 23,397,272 (GRCm39) N75I probably damaging Het
Other mutations in Klf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Klf7 APN 1 64,081,476 (GRCm39) missense possibly damaging 0.65
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
Predicted Primers PCR Primer
(F):5'- TTGGCCACCAGTTTCAACG -3'
(R):5'- GCCTTGAGTTGGAACGCTAC -3'

Sequencing Primer
(F):5'- ACCAGTTTCAACGTCACTGTG -3'
(R):5'- TTGAGTTGGAACGCTACCTCCAG -3'
Posted On 2020-10-20