Incidental Mutation 'R5033:Klf4'
ID389341
Institutional Source Beutler Lab
Gene Symbol Klf4
Ensembl Gene ENSMUSG00000003032
Gene NameKruppel-like factor 4 (gut)
SynonymsZie, EZF, Gklf
MMRRC Submission 042624-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5033 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location55527143-55532466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55530301 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 270 (M270K)
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 benign
Transcript: ENSMUST00000107619
AA Change: M270K

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103245
Gene: ENSMUSG00000003032
AA Change: M270K

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,279,414 V149A probably benign Het
1700012B07Rik G T 11: 109,794,154 C172* probably null Het
4931406P16Rik C T 7: 34,245,812 G336S probably benign Het
9930111J21Rik1 G A 11: 48,947,706 R685W probably damaging Het
Arhgap10 A T 8: 77,382,757 L399H probably damaging Het
Arih2 AGCCG AG 9: 108,611,660 probably benign Het
Atp13a2 A G 4: 141,000,821 H575R possibly damaging Het
Bbof1 G A 12: 84,411,270 probably null Het
Catsperg2 A C 7: 29,710,134 Y545D possibly damaging Het
Cdc42bpa T A 1: 180,065,015 I248N probably damaging Het
Cdk11b A T 4: 155,648,825 probably benign Het
Cfap46 C A 7: 139,603,860 L90F probably benign Het
Cndp2 A G 18: 84,670,829 L276P possibly damaging Het
Col3a1 A C 1: 45,346,110 D129A probably damaging Het
Daam1 C A 12: 71,946,520 H354Q unknown Het
Dnah5 T A 15: 28,421,678 F3892Y probably damaging Het
Dnajb3 A G 1: 88,205,023 V219A possibly damaging Het
Drd5 A G 5: 38,320,201 H179R probably damaging Het
Dym A G 18: 75,119,161 N333D possibly damaging Het
Eif2b3 A G 4: 117,052,736 D156G probably damaging Het
Emc1 A G 4: 139,371,696 D830G probably damaging Het
F13a1 A C 13: 36,988,856 I183M probably damaging Het
Fam136b-ps T A 15: 31,276,897 probably benign Het
Fdft1 C A 14: 63,163,404 K93N probably damaging Het
Gcc2 A G 10: 58,278,806 D959G probably damaging Het
Gm14085 T A 2: 122,522,914 probably null Het
Gm853 C T 4: 130,221,615 probably null Het
Gp2 A G 7: 119,454,291 V149A probably damaging Het
Gpc1 G A 1: 92,857,029 G308D probably damaging Het
Hdac9 A T 12: 34,373,907 C587S probably benign Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Iars2 A G 1: 185,317,928 V453A possibly damaging Het
Il1r1 T G 1: 40,293,524 C121W probably damaging Het
Jazf1 A G 6: 52,777,540 Y184H probably damaging Het
Kel A T 6: 41,699,055 Y234N probably damaging Het
Khk G A 5: 30,929,660 G186D probably damaging Het
Kmt2c G A 5: 25,314,708 L2135F probably benign Het
Krtap15 A G 16: 88,829,156 Y37C probably damaging Het
Lars A G 18: 42,214,776 F994S possibly damaging Het
Lrp8 T C 4: 107,834,755 probably null Het
Lrrc2 A T 9: 110,980,919 D341V probably damaging Het
Map4k4 A G 1: 40,007,502 K646R probably damaging Het
Mrps9 T A 1: 42,895,331 probably null Het
Olfr1130 T A 2: 87,607,711 C108S probably damaging Het
Olfr745 T A 14: 50,643,162 Y288N probably damaging Het
Olfr898 C T 9: 38,349,628 H176Y probably damaging Het
Pcnt A T 10: 76,399,945 C1401S possibly damaging Het
Pdgfrb A T 18: 61,077,668 K749M probably damaging Het
Pigo A T 4: 43,019,412 W969R probably null Het
Pigr A T 1: 130,844,699 Y218F probably damaging Het
Pih1d1 A G 7: 45,154,854 probably benign Het
Pik3cg A T 12: 32,199,196 probably null Het
Pik3r6 A T 11: 68,533,468 K300* probably null Het
Pip5k1c A G 10: 81,305,250 D64G probably damaging Het
Piwil2 A T 14: 70,421,593 I161K possibly damaging Het
Pou3f1 A G 4: 124,658,656 E317G probably damaging Het
Prdm8 C T 5: 98,185,212 Q213* probably null Het
Prpf6 T A 2: 181,650,106 C739S possibly damaging Het
Psmc3 T A 2: 91,054,608 S40T probably benign Het
Psmd3 A T 11: 98,682,824 D32V probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rapgef6 A T 11: 54,691,381 H1373L possibly damaging Het
Rnf207 A C 4: 152,313,209 S328A probably benign Het
Ros1 C T 10: 52,128,416 probably null Het
Ryr2 T A 13: 11,587,254 I4581F possibly damaging Het
Sacm1l C T 9: 123,586,399 R480W probably damaging Het
Sec16a A G 2: 26,419,649 V664A probably benign Het
Selenoo T A 15: 89,092,766 M207K probably damaging Het
Sh3tc2 G A 18: 62,014,891 probably null Het
Slco2b1 G T 7: 99,660,049 Q692K probably benign Het
Slfn4 A T 11: 83,186,797 D137V probably damaging Het
Srrm2 G A 17: 23,820,618 A2175T probably damaging Het
Stard9 T A 2: 120,693,399 C692S probably benign Het
Sulf2 T A 2: 166,081,622 D559V probably benign Het
Tbpl2 T C 2: 24,087,158 I283V probably benign Het
Tmem19 A G 10: 115,359,761 F46S probably benign Het
Trp63 T A 16: 25,763,306 Y35N probably damaging Het
Ttn T A 2: 76,886,442 probably benign Het
Ube2z A T 11: 96,050,322 H331Q probably benign Het
Ubr1 C T 2: 120,911,997 probably null Het
Uhrf1bp1 A G 17: 27,886,864 E788G probably damaging Het
Vmn1r235 A T 17: 21,262,288 I292F possibly damaging Het
Vmn2r1 T A 3: 64,105,080 D787E probably damaging Het
Vmn2r3 A G 3: 64,259,799 V637A probably benign Het
Xpnpep1 C A 19: 53,006,175 V341L probably benign Het
Yme1l1 A G 2: 23,194,747 D619G probably damaging Het
Zfp597 G A 16: 3,866,638 P85S probably damaging Het
Zscan20 A G 4: 128,586,128 S857P probably benign Het
Other mutations in Klf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Klf4 APN 4 55530949 missense probably benign 0.14
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
R5113:Klf4 UTSW 4 55530481 missense possibly damaging 0.94
R6569:Klf4 UTSW 4 55530394 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTCGGGACTCAGTGTAG -3'
(R):5'- ACATCAATGACGTGAGCCC -3'

Sequencing Primer
(F):5'- ACTCAGTGTAGGGGTAGTCC -3'
(R):5'- GGAGTTGGACCCAGTATACATTCC -3'
Posted On2016-06-06