Incidental Mutation 'R6940:Klf1'
ID 540504
Institutional Source Beutler Lab
Gene Symbol Klf1
Ensembl Gene ENSMUSG00000054191
Gene Name Kruppel-like transcription factor 1 (erythroid)
Synonyms Eklf, Nan
MMRRC Submission 045054-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6940 (G1)
Quality Score 222.009
Status Validated
Chromosome 8
Chromosomal Location 85628611-85631920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85628724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
Ref Sequence ENSEMBL: ENSMUSP00000064366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067060]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000067060
AA Change: T41A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: T41A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C A 9: 54,516,381 (GRCm39) A667S probably benign Het
Ank2 G A 3: 126,735,621 (GRCm39) probably benign Het
Arhgef28 A G 13: 98,102,038 (GRCm39) L812P possibly damaging Het
Armc5 C T 7: 127,839,470 (GRCm39) R263* probably null Het
Cadps2 A T 6: 23,302,491 (GRCm39) V740E probably damaging Het
Cckbr T C 7: 105,084,103 (GRCm39) V279A probably benign Het
Cd101 T C 3: 100,911,018 (GRCm39) D880G probably damaging Het
Cep350 A T 1: 155,804,297 (GRCm39) S929T probably benign Het
Chaf1b G A 16: 93,702,853 (GRCm39) R556H probably benign Het
Csn1s1 A T 5: 87,822,882 (GRCm39) Q69L possibly damaging Het
Dennd1b T C 1: 138,981,155 (GRCm39) probably null Het
Dnah11 T C 12: 118,162,503 (GRCm39) D22G probably benign Het
Dnah7a T C 1: 53,670,836 (GRCm39) H472R probably benign Het
Dnah7b G A 1: 46,158,428 (GRCm39) R337H probably benign Het
Eif2ak3 T C 6: 70,869,386 (GRCm39) V691A possibly damaging Het
Ern2 T C 7: 121,785,369 (GRCm39) R3G probably benign Het
Fat3 T C 9: 15,828,096 (GRCm39) probably null Het
Fnbp4 T C 2: 90,575,858 (GRCm39) F20L unknown Het
Gtf2b C A 3: 142,484,016 (GRCm39) D63E probably damaging Het
Hydin A G 8: 111,217,243 (GRCm39) Y1377C probably damaging Het
Lce3d G A 3: 92,865,541 (GRCm39) S52N unknown Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrfip1 T A 1: 91,050,135 (GRCm39) probably null Het
Ltbp4 A C 7: 27,008,369 (GRCm39) V1313G probably damaging Het
Morc1 C A 16: 48,300,208 (GRCm39) S235* probably null Het
Mr1 T G 1: 155,005,014 (GRCm39) *342S probably null Het
Muc21 C A 17: 35,934,118 (GRCm39) probably benign Het
Nol4l T A 2: 153,253,684 (GRCm39) S630C probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm39) P80L probably benign Het
Or51a43 A G 7: 103,717,620 (GRCm39) I206T possibly damaging Het
Otof A G 5: 30,528,987 (GRCm39) V1807A probably damaging Het
Pde5a T A 3: 122,572,681 (GRCm39) V354E possibly damaging Het
Pmfbp1 A T 8: 110,251,823 (GRCm39) E355D probably damaging Het
Ppp2r2c A G 5: 37,084,875 (GRCm39) D112G probably damaging Het
Prkacb A T 3: 146,457,254 (GRCm39) I37N probably damaging Het
Prox2 T C 12: 85,141,348 (GRCm39) D285G probably benign Het
Ranbp3l A G 15: 9,041,792 (GRCm39) S61G probably benign Het
Rnf214 T A 9: 45,802,196 (GRCm39) T289S probably damaging Het
Rnf217 G T 10: 31,381,973 (GRCm39) probably null Het
Sc5d A T 9: 42,166,723 (GRCm39) M272K probably benign Het
Slco6c1 T C 1: 97,000,626 (GRCm39) T542A possibly damaging Het
Sord T A 2: 122,094,536 (GRCm39) I308N probably damaging Het
Syvn1 A T 19: 6,101,214 (GRCm39) probably benign Het
Tas2r134 A G 2: 51,518,148 (GRCm39) H209R probably benign Het
Trak1 T C 9: 121,272,784 (GRCm39) V214A possibly damaging Het
Trpm5 C A 7: 142,638,547 (GRCm39) E322* probably null Het
Ttf2 T C 3: 100,876,831 (GRCm39) T17A probably damaging Het
Vmn2r53 T C 7: 12,316,343 (GRCm39) E492G probably benign Het
Xndc1 T C 7: 101,727,094 (GRCm39) V161A probably benign Het
Other mutations in Klf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Klf1 APN 8 85,628,628 (GRCm39) missense possibly damaging 0.93
IGL02377:Klf1 APN 8 85,631,561 (GRCm39) missense probably damaging 0.98
IGL02531:Klf1 APN 8 85,631,437 (GRCm39) missense probably damaging 0.97
IGL03346:Klf1 APN 8 85,629,561 (GRCm39) missense probably benign 0.17
R2137:Klf1 UTSW 8 85,629,775 (GRCm39) missense possibly damaging 0.85
R4907:Klf1 UTSW 8 85,629,814 (GRCm39) nonsense probably null
R5269:Klf1 UTSW 8 85,629,969 (GRCm39) missense probably benign 0.00
R7036:Klf1 UTSW 8 85,629,379 (GRCm39) missense possibly damaging 0.73
R7379:Klf1 UTSW 8 85,629,846 (GRCm39) missense possibly damaging 0.86
R8062:Klf1 UTSW 8 85,629,928 (GRCm39) missense probably benign 0.09
R8951:Klf1 UTSW 8 85,629,912 (GRCm39) missense possibly damaging 0.73
R9151:Klf1 UTSW 8 85,629,954 (GRCm39) missense probably benign 0.09
R9664:Klf1 UTSW 8 85,630,061 (GRCm39) nonsense probably null
X0067:Klf1 UTSW 8 85,629,457 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCAATCAGATGTGGGCAGAC -3'
(R):5'- TGCTTCCTGTTGGAGAAATAGG -3'

Sequencing Primer
(F):5'- TGTGGGCAGACAGGAGC -3'
(R):5'- TCCTGTTGGAGAAATAGGCCTCAC -3'
Posted On 2018-11-06