Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Egr1'

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283066

Institutional Source

Australian Phenomics Network (link to record)

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: 0.811) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

34859823-34864984 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34863055 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 297 (S297P)

Ref Sequence

ENSEMBL: ENSMUSP00000126931 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064795
AA Change: S297P

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: S297P

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 benign
Transcript: ENSMUST00000165033
AA Change: S297P

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: S297P

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Egr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Egr1	APN	18	34862494	missense	possibly damaging	0.91
IGL02247:Egr1	APN	18	34862863	missense	possibly damaging	0.94
PIT4651001:Egr1	UTSW	18	34863187	nonsense	probably null
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
R8318:Egr1	UTSW	18	34863610	missense	probably damaging	0.97
Z1177:Egr1	UTSW	18	34863230	missense	probably damaging	0.99

Posted On

2015-04-16