Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Cebpe'

550378

Institutional Source

Beutler Lab

Gene Symbol

Cebpe

Ensembl Gene

ENSMUSG00000052435

Gene Name

CCAAT/enhancer binding protein epsilon

Synonyms

C/EBPepsilon, LOC239097, CRP1, C/EBPe

MMRRC Submission

045187-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54947823-54949604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54948060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 261 (R261H)

Ref Sequence

ENSEMBL: ENSMUSP00000068927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064290]

AlphaFold

Q6PZD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064290
AA Change: R261H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068927
Gene: ENSMUSG00000052435
AA Change: R261H

Domain	Start	End	E-Value	Type
PDB:3T92\|A	37	61	8e-8	PDB
low complexity region	165	190	N/A	INTRINSIC
BRLZ	202	266	4e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired neutrophil and eosinophil development and myelodysplasia. Mutant animals are susceptible to secondary bacterial infections such as conjuntivitis, rhinitis, and pneumonia, and become moribund between 2-5 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,610 (GRCm39)	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,760,487 (GRCm39)		probably benign	Het
Actn2	A	G	13: 12,324,543 (GRCm39)	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,522,187 (GRCm39)	A613E	probably damaging	Het
Atf6b	G	A	17: 34,872,790 (GRCm39)		probably null	Het
Bub1	T	A	2: 127,663,681 (GRCm39)	E240V	probably null	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc141	C	A	2: 76,871,797 (GRCm39)	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,240,877 (GRCm39)		probably null	Het
Cd209g	T	C	8: 4,186,790 (GRCm39)	F112L	possibly damaging	Het
Cfap100	T	C	6: 90,390,436 (GRCm39)	E68G		Het
Chd9	A	G	8: 91,716,189 (GRCm39)	N921S	unknown	Het
Chil6	T	C	3: 106,311,486 (GRCm39)	N98S	probably damaging	Het
Clip1	T	C	5: 123,761,333 (GRCm39)	K734E	probably benign	Het
Cracd	C	T	5: 77,006,879 (GRCm39)	P1080L	unknown	Het
Cyp11b2	A	G	15: 74,725,507 (GRCm39)	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,482 (GRCm39)	T4418A	probably damaging	Het
Dysf	T	C	6: 84,077,184 (GRCm39)	V649A	probably benign	Het
Ergic3	G	A	2: 155,858,683 (GRCm39)	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,069,024 (GRCm39)	T117I	probably damaging	Het
Fat4	G	A	3: 38,944,023 (GRCm39)	G972D	probably damaging	Het
Gm14412	A	T	2: 177,009,138 (GRCm39)	N39K	probably damaging	Het
Gm5565	T	C	5: 146,095,084 (GRCm39)	T221A	probably benign	Het
Gnptab	T	G	10: 88,215,366 (GRCm39)	V29G	possibly damaging	Het
Grem2	T	C	1: 174,664,555 (GRCm39)	Y98C	probably damaging	Het
Grik2	A	T	10: 49,232,012 (GRCm39)	I506N	possibly damaging	Het
Has2	T	A	15: 56,545,017 (GRCm39)	Y195F	probably damaging	Het
Kics2	A	G	10: 121,576,098 (GRCm39)	Y73C	possibly damaging	Het
Lars2	T	C	9: 123,288,650 (GRCm39)	L832P	probably damaging	Het
Lipo5	T	A	19: 33,446,249 (GRCm39)	E49D	probably damaging	Het
Macc1	T	A	12: 119,414,126 (GRCm39)	Y767*	probably null	Het
Map2	G	T	1: 66,451,886 (GRCm39)	E259*	probably null	Het
Mcm9	T	C	10: 53,496,253 (GRCm39)	D310G	probably damaging	Het
Mink1	C	A	11: 70,500,901 (GRCm39)		probably null	Het
Mtrr	T	C	13: 68,727,803 (GRCm39)	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,437,724 (GRCm39)	I68N	possibly damaging	Het
Or1ab2	A	T	8: 72,863,347 (GRCm39)		probably benign	Het
Or4a71	A	T	2: 89,357,902 (GRCm39)	I284K	probably damaging	Het
Or51f23b	A	G	7: 102,402,305 (GRCm39)	M277T	probably benign	Het
Or5p60	G	T	7: 107,723,840 (GRCm39)	T210N	probably benign	Het
Or8k36-ps1	T	C	2: 86,437,672 (GRCm39)	N81S	unknown	Het
Pcdh17	A	G	14: 84,684,835 (GRCm39)	D434G	probably damaging	Het
Rnf213	T	A	11: 119,328,430 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sez6l2	A	G	7: 126,552,096 (GRCm39)	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,863,118 (GRCm39)	S24G	probably benign	Het
Slc39a2	G	T	14: 52,131,146 (GRCm39)		probably benign	Het
Slitrk5	C	T	14: 111,918,268 (GRCm39)	P631S	probably benign	Het
Taf2	A	G	15: 54,923,482 (GRCm39)	V265A	probably benign	Het
Tas2r106	T	C	6: 131,655,542 (GRCm39)	N103S	probably benign	Het
Tgm1	T	C	14: 55,942,300 (GRCm39)	T684A	possibly damaging	Het
Tgm7	C	T	2: 120,929,489 (GRCm39)	G262S	probably damaging	Het
Tpp2	T	A	1: 44,008,148 (GRCm39)	S451T	probably damaging	Het
Trim15	T	C	17: 37,173,788 (GRCm39)	Y240C	probably benign	Het
Trio	A	T	15: 27,891,534 (GRCm39)	C465S	unknown	Het
Ttc22	G	A	4: 106,493,104 (GRCm39)	W250*	probably null	Het
Upb1	C	A	10: 75,274,042 (GRCm39)	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,599,573 (GRCm39)	M419K	probably benign	Het
Vstm2a	G	A	11: 16,207,990 (GRCm39)		probably benign	Het
Zfp820	T	C	17: 22,038,246 (GRCm39)	T361A	probably benign	Het

Other mutations in Cebpe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Cebpe	APN	14	54,949,070 (GRCm39)	missense	probably damaging	1.00
IGL02618:Cebpe	APN	14	54,948,234 (GRCm39)	missense	probably damaging	1.00
R0071:Cebpe	UTSW	14	54,948,061 (GRCm39)	missense	probably damaging	1.00
R0071:Cebpe	UTSW	14	54,948,061 (GRCm39)	missense	probably damaging	1.00
R1740:Cebpe	UTSW	14	54,949,399 (GRCm39)	missense	probably damaging	1.00
R1742:Cebpe	UTSW	14	54,949,057 (GRCm39)	missense	probably benign	0.19
R5497:Cebpe	UTSW	14	54,948,052 (GRCm39)	missense	probably benign	0.39
R7505:Cebpe	UTSW	14	54,948,113 (GRCm39)	missense	probably damaging	1.00
R7592:Cebpe	UTSW	14	54,949,298 (GRCm39)	missense	probably damaging	0.99
R8956:Cebpe	UTSW	14	54,949,121 (GRCm39)	missense	probably damaging	1.00
R9717:Cebpe	UTSW	14	54,949,165 (GRCm39)	missense	probably damaging	0.97
Z1177:Cebpe	UTSW	14	54,948,037 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCAGTTTATTCAGCCACAG -3'
(R):5'- AGATAGCCTGGAGTACCGAC -3'

Sequencing Primer
(F):5'- TCAGCCACAGAATCATTTGGTC -3'
(R):5'- AGTACCGACTGCGACGTGAAC -3'

Posted On

2019-05-15