Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Hlf'

25295

Institutional Source

Beutler Lab

Gene Symbol

Hlf

Ensembl Gene

ENSMUSG00000003949

Gene Name

hepatic leukemia factor

Synonyms

E230015K02Rik

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90227362-90281721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90278701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 121 (P121L)

Ref Sequence

ENSEMBL: ENSMUSP00000004051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004051]

AlphaFold

Q8BW74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004051
AA Change: P121L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004051
Gene: ENSMUSG00000003949
AA Change: P121L

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000176001
AA Change: P33L

Meta Mutation Damage Score

0.0922

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	Het

Other mutations in Hlf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3809:Hlf	UTSW	11	90,278,929 (GRCm39)	missense	probably benign	0.38
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'- GGGTCTACCCAAATTATCCAGCGAG -3'
(R):5'- GGACAAAACCCTTCCCTATGACGG -3'

Sequencing Primer
(F):5'- ccccagacccggaaaac -3'
(R):5'- TGACGGAGATACTTTCCAGC -3'

Posted On

2013-04-16