Incidental Mutation 'IGL02602:Klf4'
ID300132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf4
Ensembl Gene ENSMUSG00000003032
Gene NameKruppel-like factor 4 (gut)
SynonymsZie, EZF, Gklf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02602
Quality Score
Status
Chromosome4
Chromosomal Location55527143-55532466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 55530595 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 172 (R172L)
Ref Sequence ENSEMBL: ENSMUSP00000103245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]
PDB Structure
CRYSTAL STRUCTURE OF THE ZINC FINGER DOMAIN OF KLF4 BOUND TO ITS TARGET DNA [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ZINC FINGER DOMAIN OF KLF4 BOUND TO ITS TARGET DNA [X-RAY DIFFRACTION]
Structure of Klf4 zinc finger DNA binding domain in complex with methylated DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000107619
AA Change: R172L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: R172L

DomainStartEndE-ValueType
low complexity region 116 144 N/A INTRINSIC
low complexity region 211 221 N/A INTRINSIC
low complexity region 235 252 N/A INTRINSIC
low complexity region 335 357 N/A INTRINSIC
ZnF_C2H2 400 424 1.82e-3 SMART
ZnF_C2H2 430 454 4.3e-5 SMART
ZnF_C2H2 460 482 8.47e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129250
SMART Domains Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032

DomainStartEndE-ValueType
low complexity region 107 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132746
SMART Domains Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth due to a skin defect that results in loss of fluids. Mutants also show a dramatic decrease in the number of goblet cells of the colon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 A G 11: 94,570,465 probably benign Het
Arhgap20 A T 9: 51,825,843 I148F probably damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cdk13 A G 13: 17,727,160 F997L probably damaging Het
Cep162 G A 9: 87,246,153 H170Y probably benign Het
Clasp1 T C 1: 118,471,785 F220L probably damaging Het
Clock C A 5: 76,254,426 G129V probably null Het
Clock C T 5: 76,254,427 G129R probably damaging Het
Cybrd1 T C 2: 71,118,148 L10P probably damaging Het
Cyp7a1 A G 4: 6,272,871 I114T possibly damaging Het
Epha7 T A 4: 28,871,877 V402D possibly damaging Het
Fam228a G A 12: 4,732,808 T95I probably benign Het
Gm7589 C T 9: 59,146,158 noncoding transcript Het
Macf1 A G 4: 123,355,163 S7190P probably damaging Het
Mga A G 2: 119,931,884 T1119A possibly damaging Het
Nmur2 T A 11: 56,027,063 T367S probably benign Het
Ogfr A G 2: 180,595,437 D605G possibly damaging Het
Olfr1314 A G 2: 112,092,561 F47L probably benign Het
Pcdhb1 A T 18: 37,266,796 N600I probably damaging Het
Pkhd1l1 T C 15: 44,557,931 S3032P probably damaging Het
Ppp2r5e A G 12: 75,493,439 L144P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Ryr2 T C 13: 11,554,511 probably benign Het
Scarb2 A G 5: 92,448,556 Y410H probably benign Het
Slc12a1 A G 2: 125,154,242 Y105C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stt3b A T 9: 115,276,778 S210T probably damaging Het
Sulf2 T C 2: 166,081,300 H635R probably benign Het
Tmem167 C A 13: 90,104,380 R52S probably damaging Het
Tsga13 G A 6: 30,902,277 T167I possibly damaging Het
Txk T C 5: 72,707,720 R271G possibly damaging Het
Vmn1r191 T C 13: 22,179,465 K40E probably damaging Het
Vmn1r69 T A 7: 10,579,974 N277Y probably benign Het
Other mutations in Klf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Klf4 APN 4 55530949 missense probably benign 0.14
IGL03088:Klf4 APN 4 55530758 missense possibly damaging 0.52
IGL03088:Klf4 APN 4 55530811 missense probably damaging 1.00
IGL03185:Klf4 APN 4 55530911 missense possibly damaging 0.65
R0846:Klf4 UTSW 4 55530191 missense probably damaging 0.99
R1815:Klf4 UTSW 4 55530977 missense probably benign 0.24
R1816:Klf4 UTSW 4 55530977 missense probably benign 0.24
R4180:Klf4 UTSW 4 55530884 missense possibly damaging 0.96
R4625:Klf4 UTSW 4 55530370 missense probably benign 0.39
R4993:Klf4 UTSW 4 55530640 missense probably damaging 1.00
R5021:Klf4 UTSW 4 55530970 missense probably damaging 1.00
R5033:Klf4 UTSW 4 55530301 missense probably benign 0.23
R5113:Klf4 UTSW 4 55530481 missense possibly damaging 0.94
R6569:Klf4 UTSW 4 55530394 missense probably damaging 1.00
R7941:Klf4 UTSW 4 55531755 intron probably benign
Posted On2015-04-16