Incidental Mutation 'R3809:Hlf'
ID 275119
Institutional Source Beutler Lab
Gene Symbol Hlf
Ensembl Gene ENSMUSG00000003949
Gene Name hepatic leukemia factor
Synonyms E230015K02Rik
MMRRC Submission 040766-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R3809 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 90227362-90281721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90278929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 45 (D45G)
Ref Sequence ENSEMBL: ENSMUSP00000004051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004051]
AlphaFold Q8BW74
Predicted Effect probably benign
Transcript: ENSMUST00000004051
AA Change: D45G

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004051
Gene: ENSMUSG00000003949
AA Change: D45G

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
low complexity region 98 111 N/A INTRINSIC
BRLZ 223 287 1.12e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000043658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145786
Predicted Effect probably benign
Transcript: ENSMUST00000176001
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,650 (GRCm39) Y105C possibly damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Apol7e A T 15: 77,602,262 (GRCm39) T287S probably benign Het
Arhgap12 A T 18: 6,037,057 (GRCm39) N561K probably benign Het
Armc3 G T 2: 19,305,476 (GRCm39) A757S probably damaging Het
Baz2b A T 2: 59,799,240 (GRCm39) S295T probably benign Het
Brd4 T A 17: 32,430,244 (GRCm39) K686N possibly damaging Het
Btnl6 T C 17: 34,727,202 (GRCm39) T443A probably benign Het
Cacna1g T C 11: 94,306,922 (GRCm39) T1801A probably damaging Het
Celsr2 G A 3: 108,310,555 (GRCm39) T1509I possibly damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Cog1 G T 11: 113,545,836 (GRCm39) M370I probably benign Het
Col6a6 C G 9: 105,657,891 (GRCm39) V774L probably damaging Het
Csf1r T A 18: 61,245,836 (GRCm39) S264R probably benign Het
Ctnna2 A T 6: 76,931,740 (GRCm39) V620D probably damaging Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Frmd4b G A 6: 97,300,690 (GRCm39) L214F possibly damaging Het
Fstl1 T A 16: 37,647,113 (GRCm39) L161Q probably damaging Het
Hdac1 A G 4: 129,418,113 (GRCm39) F94S probably damaging Het
Hps3 A T 3: 20,072,976 (GRCm39) M501K probably damaging Het
Ighv14-4 A G 12: 114,140,174 (GRCm39) Y79H probably damaging Het
Ip6k1 T A 9: 107,923,086 (GRCm39) V406D probably damaging Het
Iqcf1 T C 9: 106,379,077 (GRCm39) S29P probably benign Het
Itga11 A G 9: 62,678,664 (GRCm39) T944A probably benign Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Kmt2c T C 5: 25,614,136 (GRCm39) R195G possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Neb A G 2: 52,146,801 (GRCm39) I2821T possibly damaging Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or2a25 A T 6: 42,889,271 (GRCm39) K271N probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Or56b1 A T 7: 104,285,540 (GRCm39) I220L possibly damaging Het
Or8b3b C T 9: 38,584,159 (GRCm39) V207I probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Pfdn1 C T 18: 36,584,145 (GRCm39) G63D probably damaging Het
Pgghg T C 7: 140,525,208 (GRCm39) F405L probably damaging Het
Plcd3 T C 11: 102,992,209 (GRCm39) M50V probably null Het
Plekha8 C A 6: 54,596,334 (GRCm39) S198R probably benign Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rnf217 T A 10: 31,379,804 (GRCm39) I473F possibly damaging Het
Sec16a G C 2: 26,331,825 (GRCm39) N63K possibly damaging Het
Sik3 A G 9: 46,130,784 (GRCm39) D1240G probably benign Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc2a3 A G 6: 122,709,388 (GRCm39) I337T probably benign Het
Tent4a A G 13: 69,661,115 (GRCm39) V51A probably damaging Het
Tinag C T 9: 76,859,187 (GRCm39) D474N probably benign Het
Ublcp1 A G 11: 44,349,109 (GRCm39) F242L probably benign Het
Ucp1 C A 8: 84,017,270 (GRCm39) A20D probably damaging Het
Ugt1a7c C T 1: 88,023,104 (GRCm39) R88W possibly damaging Het
Wipf3 A G 6: 54,458,780 (GRCm39) D45G probably damaging Het
Zfp592 G A 7: 80,674,280 (GRCm39) A415T probably benign Het
Other mutations in Hlf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0312:Hlf UTSW 11 90,278,701 (GRCm39) missense possibly damaging 0.82
R1332:Hlf UTSW 11 90,231,679 (GRCm39) nonsense probably null
R1863:Hlf UTSW 11 90,231,652 (GRCm39) missense probably damaging 0.99
R3177:Hlf UTSW 11 90,236,661 (GRCm39) missense probably damaging 1.00
R3277:Hlf UTSW 11 90,236,661 (GRCm39) missense probably damaging 1.00
R5129:Hlf UTSW 11 90,281,078 (GRCm39) missense probably benign
R5249:Hlf UTSW 11 90,278,632 (GRCm39) missense probably benign 0.01
R7751:Hlf UTSW 11 90,278,821 (GRCm39) missense probably damaging 0.99
R8924:Hlf UTSW 11 90,236,714 (GRCm39) missense probably damaging 1.00
X0023:Hlf UTSW 11 90,236,577 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TGCTGAGATCCATGACCGAG -3'
(R):5'- AGGAAGATGTCGAAACTCTAGATC -3'

Sequencing Primer
(F):5'- AGCTGGTTGCAAGCCAG -3'
(R):5'- TGTCGAAACTCTAGATCTACCAGAGG -3'
Posted On 2015-04-02