Incidental Mutation 'IGL01928:Klf4'
ID180359
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 #IGL01928
Quality Score
Status
Chromosome4
Chromosomal Location55527143-55532466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55530949 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 45 (L45P)
Ref Sequence ENSEMBL: ENSMUSP00000116514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107619] [ENSMUST00000129250] [ENSMUST00000132746]
Predicted Effect probably benign
Transcript: ENSMUST00000107619
AA Change: L54P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: L54P

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: L45P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116514
Gene: ENSMUSG00000003032
AA Change: L45P

DomainStartEndE-ValueType
low complexity region 107 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132746
AA Change: L4P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000123687
Gene: ENSMUSG00000003032
AA Change: L4P

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfm4 G A 14: 80,011,952 V170I possibly damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T probably damaging Het
Other mutations in Klf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Klf4 APN 4 55530595 missense probably damaging 0.99
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
Posted On2014-05-07