Incidental Mutation 'R5613:Klf7'
ID 438060
Institutional Source Beutler Lab
Gene Symbol Klf7
Ensembl Gene ENSMUSG00000025959
Gene Name Kruppel-like transcription factor 7 (ubiquitous)
Synonyms 9830124P08Rik
MMRRC Submission 043274-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5613 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 64068606-64161441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64081555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 258 (R258C)
Ref Sequence ENSEMBL: ENSMUSP00000109720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055001] [ENSMUST00000114086]
AlphaFold Q99JB0
Predicted Effect probably damaging
Transcript: ENSMUST00000055001
AA Change: R258C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054674
Gene: ENSMUSG00000025959
AA Change: R258C

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 damaging
Transcript: ENSMUST00000114086
AA Change: R258C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109720
Gene: ENSMUSG00000025959
AA Change: R258C

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
Meta Mutation Damage Score 0.7732 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,465,346 (GRCm39) probably benign Het
Adamts16 A C 13: 70,878,253 (GRCm39) S1171A probably benign Het
Agtr1b T C 3: 20,370,424 (GRCm39) T61A probably damaging Het
Ankrd35 A G 3: 96,590,334 (GRCm39) D257G possibly damaging Het
Arhgef5 A G 6: 43,250,997 (GRCm39) T583A probably benign Het
Camk2g T C 14: 20,787,559 (GRCm39) N423S probably damaging Het
Cand1 A T 10: 119,051,228 (GRCm39) H293Q possibly damaging Het
Chd4 A C 6: 125,097,509 (GRCm39) E1359D probably damaging Het
Creb3 T C 4: 43,566,196 (GRCm39) C264R probably benign Het
Cul9 T C 17: 46,814,770 (GRCm39) D2171G probably damaging Het
Cyp7a1 A T 4: 6,272,799 (GRCm39) L138Q probably damaging Het
Dclk1 A G 3: 55,424,360 (GRCm39) T380A probably benign Het
Dnm2 T A 9: 21,383,963 (GRCm39) I248N probably damaging Het
Dtx4 A T 19: 12,462,767 (GRCm39) S337R probably damaging Het
Dus3l T C 17: 57,074,882 (GRCm39) S335P possibly damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Eral1 G A 11: 77,965,230 (GRCm39) probably benign Het
Eya1 G T 1: 14,373,153 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,167,601 (GRCm39) Y52F probably benign Het
Fcgbpl1 A T 7: 27,842,303 (GRCm39) probably benign Het
Gm5600 A G 7: 113,307,293 (GRCm39) noncoding transcript Het
Gm5901 A G 7: 105,026,532 (GRCm39) Y100C probably damaging Het
Haus3 A G 5: 34,325,173 (GRCm39) L162P probably damaging Het
Hivep2 T C 10: 14,015,239 (GRCm39) I1802T probably damaging Het
Mapt A G 11: 104,193,216 (GRCm39) N66D possibly damaging Het
Mypop G A 7: 18,725,901 (GRCm39) probably benign Het
Nefm T A 14: 68,358,583 (GRCm39) K484* probably null Het
Nup153 A C 13: 46,840,747 (GRCm39) S954A possibly damaging Het
Or13c7 G A 4: 43,854,528 (GRCm39) C73Y probably damaging Het
Or4a78 T C 2: 89,497,388 (GRCm39) N281D probably damaging Het
Pkn1 C T 8: 84,404,390 (GRCm39) A543T probably benign Het
Ppp1r11 C A 17: 37,262,380 (GRCm39) G7W probably damaging Het
Prss52 A T 14: 64,346,951 (GRCm39) N42Y possibly damaging Het
Ptger2 T G 14: 45,226,960 (GRCm39) V180G possibly damaging Het
Rep15 G T 6: 146,934,352 (GRCm39) V64F possibly damaging Het
Rfpl4b T A 10: 38,697,373 (GRCm39) Q76L probably benign Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc16a12 T C 19: 34,652,358 (GRCm39) M263V probably benign Het
Spdye4c A T 2: 128,434,889 (GRCm39) Q95L possibly damaging Het
Srfbp1 G A 18: 52,616,717 (GRCm39) D81N probably damaging Het
Sspo G A 6: 48,431,978 (GRCm39) V731M possibly damaging Het
Susd6 G T 12: 80,915,308 (GRCm39) G98C probably damaging Het
Tlr4 T A 4: 66,759,122 (GRCm39) S638R possibly damaging Het
Tnfsf13 G T 11: 69,574,821 (GRCm39) probably null Het
Tnfsf18 A G 1: 161,331,297 (GRCm39) N149S possibly damaging Het
Tor1aip1 T C 1: 155,909,499 (GRCm39) K176E probably damaging Het
Trav10 A T 14: 53,743,483 (GRCm39) H28L probably benign Het
Trim30a T A 7: 104,079,389 (GRCm39) K155N probably damaging Het
Trpm1 A G 7: 63,858,159 (GRCm39) D333G probably damaging Het
Tssk1 T C 16: 17,712,364 (GRCm39) S50P probably benign Het
Ttll9 CAAA CAA 2: 152,815,521 (GRCm39) probably null Het
Ttn A T 2: 76,739,996 (GRCm39) probably benign Het
Vmn2r115 A T 17: 23,564,307 (GRCm39) I160L probably benign Het
Wdr95 A T 5: 149,507,935 (GRCm39) D396V probably damaging Het
Zbtb47 T A 9: 121,596,585 (GRCm39) I647N probably damaging Het
Zfp799 T C 17: 33,038,964 (GRCm39) Y433C 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
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
Predicted Primers PCR Primer
(F):5'- ACAGGCCTGCTTGCTACTAG -3'
(R):5'- ATGGCTCAGAGGTTTGAAGG -3'

Sequencing Primer
(F):5'- GCTTGCTACTAGACCCAGATC -3'
(R):5'- ACACACAGCACCAGGGGG -3'
Posted On 2016-10-26