Incidental Mutation 'R0846:Klf4'
ID 77362
Institutional Source Beutler Lab
Gene Symbol Klf4
Ensembl Gene ENSMUSG00000003032
Gene Name Kruppel-like transcription factor 4 (gut)
Synonyms Gklf, Zie, EZF
MMRRC Submission 039025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0846 (G1)
Quality Score 192
Status Not validated
Chromosome 4
Chromosomal Location 55527143-55532466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55530191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 307 (H307Y)
Ref Sequence ENSEMBL: ENSMUSP00000103245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]
AlphaFold Q60793
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: H307Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: H307Y

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
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.2%
  • 20x: 90.2%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,071 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,627,861 (GRCm39) R3667* probably null Het
Adh5 T G 3: 138,156,835 (GRCm39) C174G probably damaging Het
Cap1 A C 4: 122,756,692 (GRCm39) probably null Het
Caps2 G A 10: 112,051,490 (GRCm39) R587H probably damaging Het
Ccn1 T A 3: 145,353,525 (GRCm39) M346L possibly damaging Het
Cdo1 A G 18: 46,848,812 (GRCm39) V142A probably damaging Het
Chuk T C 19: 44,079,467 (GRCm39) T345A probably damaging Het
Cobll1 T C 2: 64,932,409 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cop1 T C 1: 159,147,386 (GRCm39) Y571H probably benign Het
Cstpp1 T A 2: 91,214,182 (GRCm39) T58S probably damaging Het
Dcc A G 18: 71,959,283 (GRCm39) V163A probably benign Het
Dnah11 G T 12: 117,897,585 (GRCm39) N3548K probably damaging Het
Ehhadh G T 16: 21,592,247 (GRCm39) S152* probably null Het
Fitm2 T C 2: 163,311,734 (GRCm39) T160A probably benign Het
Fos C T 12: 85,522,457 (GRCm39) T162I probably damaging Het
Fsd2 T C 7: 81,190,145 (GRCm39) I546V probably benign Het
Gal3st2c T C 1: 93,934,669 (GRCm39) V19A possibly damaging Het
Gorasp2 T A 2: 70,521,298 (GRCm39) S443T probably benign Het
Ldc1 A C 4: 130,115,417 (GRCm39) S44A probably benign Het
Mark3 A G 12: 111,593,658 (GRCm39) D230G possibly damaging Het
Mnat1 T G 12: 73,170,706 (GRCm39) probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otogl T G 10: 107,608,157 (GRCm39) T2073P probably benign Het
Pdxdc1 A C 16: 13,672,257 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,358,993 (GRCm39) S401P probably damaging Het
Polr1a T C 6: 71,901,627 (GRCm39) Y262H probably damaging Het
Pramel19 A T 4: 101,798,447 (GRCm39) K139N probably benign Het
Scamp4 T C 10: 80,450,537 (GRCm39) F205L probably benign Het
Scn1a C T 2: 66,155,099 (GRCm39) S620N probably benign Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Slc17a8 T C 10: 89,442,596 (GRCm39) D79G possibly damaging Het
Sync A G 4: 129,187,897 (GRCm39) S310G probably benign Het
Tbc1d9b A C 11: 50,062,148 (GRCm39) I1219L probably benign Het
Vmn1r47 T A 6: 89,999,657 (GRCm39) M263K probably benign Het
Zfp773 A T 7: 7,135,691 (GRCm39) C302S probably 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
IGL03185:Klf4 APN 4 55,530,911 (GRCm39) missense possibly damaging 0.65
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
Predicted Primers PCR Primer
(F):5'- ACTGCATCTGGTCTGGCAGGAAAG -3'
(R):5'- TGGCGGACATCAATGACGTGAG -3'

Sequencing Primer
(F):5'- TCTGGCAGGAAAGGAGGGTAG -3'
(R):5'- CGGAGTTGGACCCAGTATACATTC -3'
Posted On 2013-10-16