Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4651001:Egr1'

556709

Institutional Source

Beutler Lab

Gene Symbol

Egr1

Ensembl Gene

ENSMUSG00000038418

Gene Name

early growth response 1

Synonyms

Zfp-6, Krox-1, Zenk, Zif268, NGF1-A, A530045N19Rik, NGFI-A, NGFIA, ETR103, TIS8, Krox-24, Krox24, Egr-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.860) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34859823-34864984 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 34863187 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 341 (E341*)

Ref Sequence

ENSEMBL: ENSMUSP00000069616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064795] [ENSMUST00000165033]

PDB Structure

DSNR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GACC SITE) [X-RAY DIFFRACTION]
DSNR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCGT SITE) [X-RAY DIFFRACTION]
QGSR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GCGT SITE) [X-RAY DIFFRACTION]
RADR (ZIF268 VARIANT) ZINC FINGER-DNA COMPLEX (GACC SITE) [X-RAY DIFFRACTION]
ZIF268 ZINC FINGER-DNA COMPLEX (GCAC SITE) [X-RAY DIFFRACTION]
ZIF268 ZINC FINGER-DNA COMPLEX [X-RAY DIFFRACTION]
COCRYSTAL STRUCTURE OF SELECTED ZINC FINGER DIMER BOUND TO DNA [X-RAY DIFFRACTION]
STRUCTURE OF A CYS2HIS2 ZINC FINGER/TATA BOX COMPLEX (CLONE #2) [X-RAY DIFFRACTION]
>> 6 additional structures at PDB <<

Predicted Effect

probably null
Transcript: ENSMUST00000064795
AA Change: E341*

SMART Domains

Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: E341*

Domain	Start	End	E-Value	Type
low complexity region	57	81	N/A	INTRINSIC
Pfam:DUF3446	132	217	8.9e-28	PFAM
ZnF_C2H2	336	360	3.21e-4	SMART
ZnF_C2H2	366	388	2.91e-2	SMART
ZnF_C2H2	394	416	1.36e-2	SMART
Pfam:DUF3432	426	520	4.9e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165033
AA Change: E341*

SMART Domains

Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: E341*

Domain	Start	End	E-Value	Type
low complexity region	57	81	N/A	INTRINSIC
Pfam:DUF3446	132	217	1.4e-30	PFAM
ZnF_C2H2	336	360	3.21e-4	SMART
ZnF_C2H2	366	388	2.91e-2	SMART
ZnF_C2H2	394	416	1.36e-2	SMART
Pfam:DUF3432	424	520	2.5e-32	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted mutations are small and infertile due to pituitary defects. Mutants exhibit reductions in somatotropes and growth hormone content, and a lack of luteinizing hormone-beta expression. Ovaries lack luteinizing hormone receptors. Memory defects are also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,259,895	I428L	probably benign	Het
Aass	T	C	6: 23,118,751	I131V	probably benign	Het
Alcam	T	A	16: 52,295,187	K189N	probably benign	Het
Ankrd50	C	A	3: 38,455,810	E803*	probably null	Het
Ankrd53	A	G	6: 83,765,733	D236G	probably damaging	Het
Bard1	A	G	1: 71,074,928	V298A	probably benign	Het
Cacna1d	C	T	14: 30,178,645	G361D	probably damaging	Het
Camkk1	A	G	11: 73,025,821	S82G	probably benign	Het
Ccr4	A	T	9: 114,492,193	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,719	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,215,083	A254E	probably benign	Het
Cfap46	T	C	7: 139,645,551	T1078A		Het
Cyp46a1	A	G	12: 108,353,108	D288G	probably benign	Het
Dnah6	T	C	6: 73,060,260	N3333S	probably benign	Het
Dzip3	A	G	16: 48,944,878	V491A	probably benign	Het
Enpp1	G	A	10: 24,653,950	P597S	probably benign	Het
Ercc3	A	T	18: 32,240,312		probably benign	Het
Fam160a1	C	T	3: 85,683,641	A389T	probably damaging	Het
Fbn1	T	C	2: 125,363,989		probably null	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Gbf1	A	G	19: 46,163,543	N5S	probably benign	Het
Gbp4	T	A	5: 105,118,423	H584L	probably benign	Het
Gcgr	G	T	11: 120,538,142	C402F	probably damaging	Het
Gm3550	A	T	18: 34,737,839	Q142L	unknown	Het
Grm7	T	A	6: 110,646,089	N74K	probably benign	Het
Hils1	A	G	11: 94,968,316	S146G	probably benign	Het
Hoxa10	T	G	6: 52,234,897	N13T	possibly damaging	Het
Ice1	A	T	13: 70,623,921		probably null	Het
Il22	C	A	10: 118,205,590	N69K	probably damaging	Het
Il9r	A	T	11: 32,191,798	H319Q	probably benign	Het
Itgax	A	G	7: 128,149,110	T1104A	probably benign	Het
Jag1	C	T	2: 137,101,697	G193D	probably damaging	Het
Krt13	T	A	11: 100,120,036	D164V	probably damaging	Het
Lepr	T	C	4: 101,791,997	M865T	probably damaging	Het
Lmf2	G	A	15: 89,352,069	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,608,323	H655Y	probably benign	Het
Mapk6	A	T	9: 75,397,587	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,246,951	Y261N	probably damaging	Het
Mon1b	G	A	8: 113,638,622	G194D	probably benign	Het
Myo18b	C	T	5: 112,834,435	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,342,812	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,016,200	I15T	probably benign	Het
Nhsl1	T	G	10: 18,408,435	S41R	probably damaging	Het
Numa1	A	T	7: 102,013,934	K2089M	probably damaging	Het
Obscn	A	G	11: 59,041,681	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,021,485	L391Q	probably benign	Het
Olfr1034	T	C	2: 86,046,518	L12P	probably damaging	Het
Olfr1459	T	A	19: 13,146,627	I11F	probably benign	Het
Olfr1465	A	G	19: 13,314,192	I31T	probably benign	Het
Olfr705	A	G	7: 106,873,523	C241R	probably damaging	Het
Olfr980	A	T	9: 40,006,230	C240S	probably damaging	Het
Park2	T	A	17: 11,067,243	L41Q	probably damaging	Het
Parn	T	A	16: 13,631,567	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,748,470	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,708,899	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,746,050	A270V	probably benign	Het
Pnpt1	T	C	11: 29,156,945		probably null	Het
Rc3h1	C	A	1: 160,963,540	N931K	probably benign	Het
Rlf	A	G	4: 121,150,313	V600A	probably damaging	Het
Rnf219	T	A	14: 104,506,256	D129V	probably damaging	Het
Sall1	T	G	8: 89,031,103	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,694,733	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,300,895	M319L	probably benign	Het
Trim24	T	C	6: 37,900,732		probably null	Het
Ttn	T	A	2: 76,888,934	T7234S	unknown	Het
Unc13c	T	A	9: 73,483,739	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,363,113	R667*	probably null	Het
Uvrag	A	G	7: 98,906,520	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,076,360	V190A	probably damaging	Het
Vmn2r50	T	A	7: 10,037,732	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,946,253	T408S	probably benign	Het
Vps33b	A	G	7: 80,290,007	D502G	probably damaging	Het

Other mutations in Egr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Egr1	APN	18	34862494	missense	possibly damaging	0.91
IGL02175:Egr1	APN	18	34863055	missense	probably benign	0.26
IGL02247:Egr1	APN	18	34862863	missense	possibly damaging	0.94
R0362:Egr1	UTSW	18	34863313	missense	possibly damaging	0.95
R1998:Egr1	UTSW	18	34861534	missense	probably benign	0.00
R5010:Egr1	UTSW	18	34863658	missense	probably benign
R7762:Egr1	UTSW	18	34863545	missense	probably damaging	0.99
Z1177:Egr1	UTSW	18	34863230	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTTCCACAACAACAGGGAGAC -3'
(R):5'- CACAGGCAAAAGGCTTCTCG -3'

Sequencing Primer
(F):5'- TCTGGAGAACCGTACCCAG -3'
(R):5'- CTCGCCTGTGTGGGTGC -3'

Posted On

2019-06-07