Incidental Mutation 'IGL03185:Klf4'
ID 412452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf4
Ensembl Gene ENSMUSG00000003032
Gene Name Kruppel-like transcription factor 4 (gut)
Synonyms Gklf, Zie, EZF
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03185
Quality Score
Status
Chromosome 4
Chromosomal Location 55527143-55532466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55530911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000116514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]
AlphaFold Q60793
Predicted Effect probably benign
Transcript: ENSMUST00000107619
AA Change: T67A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: T67A

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 possibly damaging
Transcript: ENSMUST00000129250
AA Change: T58A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: T58A

DomainStartEndE-ValueType
low complexity region 107 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132746
AA Change: T17A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032
AA Change: T17A

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,255,212 (GRCm39) D77G probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Babam2 T C 5: 31,859,376 (GRCm39) I27T possibly damaging Het
Ccdc150 A G 1: 54,339,482 (GRCm39) E442G probably damaging Het
Ccdc92 A G 5: 124,913,014 (GRCm39) Y172H probably damaging Het
Chl1 T A 6: 103,642,824 (GRCm39) D187E probably damaging Het
Col6a4 A T 9: 105,896,653 (GRCm39) F1721I probably damaging Het
Corin C T 5: 72,490,124 (GRCm39) G542D probably damaging Het
Dennd1c C T 17: 57,373,803 (GRCm39) D587N probably benign Het
Dnah10 A G 5: 124,894,707 (GRCm39) Y3424C probably damaging Het
Echdc1 T A 10: 29,207,836 (GRCm39) F127I possibly damaging Het
F13b T A 1: 139,444,124 (GRCm39) V486E probably benign Het
Fkbp15 C T 4: 62,250,423 (GRCm39) probably null Het
Glt8d2 T A 10: 82,498,110 (GRCm39) I100F probably damaging Het
Gmip C T 8: 70,262,433 (GRCm39) P10L probably benign Het
Grm7 T C 6: 110,623,183 (GRCm39) S119P possibly damaging Het
Mink1 T C 11: 70,494,686 (GRCm39) I289T probably damaging Het
Mptx2 A T 1: 173,102,356 (GRCm39) V111D possibly damaging Het
Muc5b A T 7: 141,416,559 (GRCm39) E3168D possibly damaging Het
Mylk3 C A 8: 86,053,833 (GRCm39) V695F probably damaging Het
Or11j4 C A 14: 50,630,855 (GRCm39) T214K probably damaging Het
Or7g21 T A 9: 19,033,034 (GRCm39) V258E probably damaging Het
Pcare A T 17: 72,056,332 (GRCm39) I1115K probably damaging Het
Pira13 A G 7: 3,826,229 (GRCm39) Y255H probably damaging Het
Poglut2 G A 1: 44,156,359 (GRCm39) S76L probably benign Het
Pprc1 C A 19: 46,058,186 (GRCm39) probably benign Het
Prkaa2 C T 4: 104,896,918 (GRCm39) probably null Het
Prss50 A G 9: 110,687,279 (GRCm39) Y74C probably benign Het
Rnf145 T C 11: 44,422,157 (GRCm39) L80P probably damaging Het
Serpinb3b T C 1: 107,084,662 (GRCm39) I120V probably benign Het
Sgca T C 11: 94,861,610 (GRCm39) M212V probably benign Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc30a9 A G 5: 67,490,406 (GRCm39) R226G probably benign Het
Slc5a11 A G 7: 122,864,412 (GRCm39) D336G possibly damaging Het
Slfn8 T C 11: 82,908,333 (GRCm39) H70R probably benign Het
Stoml2 T C 4: 43,029,065 (GRCm39) N269S probably benign Het
Synrg A G 11: 83,872,305 (GRCm39) E142G probably damaging Het
Thbs2 G A 17: 14,901,672 (GRCm39) Q436* probably null Het
Tyk2 T C 9: 21,020,680 (GRCm39) N917S probably damaging Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp446 G T 7: 12,712,925 (GRCm39) V88F probably null Het
Zp3 A G 5: 136,011,575 (GRCm39) N131S possibly damaging Het
Other mutations in Klf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Klf4 APN 4 55,530,949 (GRCm39) missense probably benign 0.14
IGL02602:Klf4 APN 4 55,530,595 (GRCm39) missense probably damaging 0.99
IGL03088:Klf4 APN 4 55,530,811 (GRCm39) missense probably damaging 1.00
IGL03088:Klf4 APN 4 55,530,758 (GRCm39) missense possibly damaging 0.52
R0846:Klf4 UTSW 4 55,530,191 (GRCm39) missense probably damaging 0.99
R1815:Klf4 UTSW 4 55,530,977 (GRCm39) missense probably benign 0.24
R1816:Klf4 UTSW 4 55,530,977 (GRCm39) missense probably benign 0.24
R4180:Klf4 UTSW 4 55,530,884 (GRCm39) missense possibly damaging 0.96
R4625:Klf4 UTSW 4 55,530,370 (GRCm39) missense probably benign 0.39
R4993:Klf4 UTSW 4 55,530,640 (GRCm39) missense probably damaging 1.00
R5021:Klf4 UTSW 4 55,530,970 (GRCm39) missense probably damaging 1.00
R5033:Klf4 UTSW 4 55,530,301 (GRCm39) missense probably benign 0.23
R5113:Klf4 UTSW 4 55,530,481 (GRCm39) missense possibly damaging 0.94
R6569:Klf4 UTSW 4 55,530,394 (GRCm39) missense probably damaging 1.00
R7941:Klf4 UTSW 4 55,531,755 (GRCm39) intron probably benign
Posted On 2016-08-02