Incidental Mutation 'R7379:Klf1'
ID 572581
Institutional Source Beutler Lab
Gene Symbol Klf1
Ensembl Gene ENSMUSG00000054191
Gene Name Kruppel-like transcription factor 1 (erythroid)
Synonyms Eklf, Nan
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7379 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 85628611-85631920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85629846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 224 (Y224N)
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: Y224N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064366
Gene: ENSMUSG00000054191
AA Change: Y224N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mturn A G 6: 54,666,069 (GRCm39) T81A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or12e13 T A 2: 87,664,123 (GRCm39) C247S probably damaging Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc25a38 T A 9: 119,949,902 (GRCm39) L227Q probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Stx2 A G 5: 129,064,863 (GRCm39) V278A possibly damaging Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P Het
Zeb2 G T 2: 44,891,829 (GRCm39) probably null 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
R6940:Klf1 UTSW 8 85,628,724 (GRCm39) missense possibly damaging 0.71
R7036:Klf1 UTSW 8 85,629,379 (GRCm39) missense possibly damaging 0.73
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'- AACTTTCCAGGTTCCGAGTC -3'
(R):5'- TTAGGTGCCAAAGTTCGCC -3'

Sequencing Primer
(F):5'- AGTGGCACAGTTCGAGC -3'
(R):5'- CAAAGTTCGCCGGCTGC -3'
Posted On 2019-09-13