Incidental Mutation 'IGL02531:Klf1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klf1
Ensembl Gene ENSMUSG00000054191
Gene NameKruppel-like factor 1 (erythroid)
SynonymsNan, Eklf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02531
Quality Score
Chromosomal Location84901928-84905291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84904808 bp
Amino Acid Change Phenylalanine to Isoleucine at position 334 (F334I)
Ref Sequence ENSEMBL: ENSMUSP00000064366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003910] [ENSMUST00000067060] [ENSMUST00000109744] [ENSMUST00000134569] [ENSMUST00000145292]
Predicted Effect probably benign
Transcript: ENSMUST00000003910
SMART Domains Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812

signal peptide 1 19 N/A INTRINSIC
Pfam:DNase_II 21 349 5.8e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000067060
AA Change: F334I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: F334I

Pfam:EKLF_TAD1 40 66 9e-23 PFAM
Pfam:EKLF_TAD2 78 103 4.9e-16 PFAM
low complexity region 153 180 N/A INTRINSIC
low complexity region 197 212 N/A INTRINSIC
low complexity region 235 246 N/A INTRINSIC
ZnF_C2H2 293 317 2.2e-2 SMART
ZnF_C2H2 323 347 7.49e-5 SMART
ZnF_C2H2 353 375 3.34e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109744
SMART Domains Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812

Pfam:DNase_II 9 328 4.8e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128400
Predicted Effect probably benign
Transcript: ENSMUST00000134569
SMART Domains Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812

signal peptide 1 19 N/A INTRINSIC
Pfam:DNase_II 20 119 6.6e-32 PFAM
Pfam:DNase_II 115 182 4.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145292
SMART Domains Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812

signal peptide 1 19 N/A INTRINSIC
Pfam:DNase_II 20 97 2.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155942
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 hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
PHENOTYPE: Nullizygous mice exhibit fatal anemia due to impaired hemopoiesis in fetal liver. Homozygotes for an ENU-induced allele die at E10-11 with severely impaired hemopoiesis while surviving heterozygotes show hemolytic anemia with reduced RBC counts, hematocrit and hemoglobin, and altered RBC morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Thoc1 A G 18: 9,970,258 T203A probably benign Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Klf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Klf1 APN 8 84901999 missense possibly damaging 0.93
IGL02377:Klf1 APN 8 84904932 missense probably damaging 0.98
IGL03346:Klf1 APN 8 84902932 missense probably benign 0.17
R2137:Klf1 UTSW 8 84903146 missense possibly damaging 0.85
R4907:Klf1 UTSW 8 84903185 nonsense probably null
R5269:Klf1 UTSW 8 84903340 missense probably benign 0.00
R6940:Klf1 UTSW 8 84902095 missense possibly damaging 0.71
R7036:Klf1 UTSW 8 84902750 missense possibly damaging 0.73
R7379:Klf1 UTSW 8 84903217 missense possibly damaging 0.86
R8062:Klf1 UTSW 8 84903299 missense probably benign 0.09
R8951:Klf1 UTSW 8 84903283 missense possibly damaging 0.73
X0067:Klf1 UTSW 8 84902828 missense probably damaging 0.99
Posted On2015-04-16