Incidental Mutation 'R4180:Klf4'
ID 319678
Institutional Source Beutler Lab
Gene Symbol Klf4
Ensembl Gene ENSMUSG00000003032
Gene Name Kruppel-like transcription factor 4 (gut)
Synonyms Gklf, Zie, EZF
MMRRC Submission 041016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4180 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 55527143-55532466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55530884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 26 (G26R)
Ref Sequence ENSEMBL: ENSMUSP00000123687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]
AlphaFold Q60793
Predicted Effect possibly damaging
Transcript: ENSMUST00000107619
AA Change: G76R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: G76R

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
AA Change: G67R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: G67R

DomainStartEndE-ValueType
low complexity region 107 135 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000132746
AA Change: G26R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032
AA Change: G26R

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
Meta Mutation Damage Score 0.1722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,331,590 (GRCm39) S1326P possibly damaging Het
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Mafa T C 15: 75,619,413 (GRCm39) Y120C possibly damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Nub1 T C 5: 24,897,875 (GRCm39) I87T probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trbv4 A C 6: 41,036,646 (GRCm39) D57A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I probably benign 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
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
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'- ATTCTCGGCTGTAGAGGAGC -3'
(R):5'- CCAACAAGTCAATATTAGGGGTGG -3'

Sequencing Primer
(F):5'- TCCACCTGTGTTGCTGGCAG -3'
(R):5'- TGGCAACAGGGTGCTACAATTAAC -3'
Posted On 2015-06-10