Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00574:Egr4'

10450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egr4

Ensembl Gene

ENSMUSG00000071341

Gene Name

early growth response 4

Synonyms

pAT133, NGF1-C, NGFI-C

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00574

Quality Score

Status

Chromosome

Chromosomal Location

85488103-85490571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85489487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

Ref Sequence

ENSEMBL: ENSMUSP00000093433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095759]

AlphaFold

Q9WUF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095759
AA Change: D191G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093433
Gene: ENSMUSG00000071341
AA Change: D191G

Domain	Start	End	E-Value	Type
low complexity region	132	160	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	286	297	N/A	INTRINSIC
low complexity region	328	357	N/A	INTRINSIC
ZnF_C2H2	372	396	6.32e-3	SMART
ZnF_C2H2	402	424	3.34e-2	SMART
ZnF_C2H2	430	452	1.18e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male homozygous null mice are viable but infertile due to an impairment of meiosis during spermatogenesis. Females are fertile and the gross anatomy of both sexes appears normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	T	C	1: 125,339,011 (GRCm39)	Y109C	probably damaging	Het
Agap3	T	A	5: 24,703,107 (GRCm39)	L568Q	probably damaging	Het
Baiap2	T	C	11: 119,897,234 (GRCm39)	S530P	probably damaging	Het
Bmpr1a	T	C	14: 34,156,376 (GRCm39)	I164V	probably benign	Het
Btaf1	A	G	19: 36,947,330 (GRCm39)	N473S	probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Grk4	T	A	5: 34,852,162 (GRCm39)	N135K	probably benign	Het
Hectd1	T	C	12: 51,820,787 (GRCm39)	N1134S	probably benign	Het
Macrod2	T	G	2: 140,242,797 (GRCm39)	M21R	probably damaging	Het
Mtx3	G	T	13: 92,984,384 (GRCm39)	Q188H	possibly damaging	Het
Otx1	T	C	11: 21,946,794 (GRCm39)		probably benign	Het
Pcdhb8	T	G	18: 37,489,423 (GRCm39)	F26C	probably damaging	Het
Pdgfra	T	A	5: 75,341,708 (GRCm39)	I647K	probably damaging	Het
Psapl1	C	A	5: 36,362,975 (GRCm39)	N522K	probably benign	Het
Rbm10	T	A	X: 20,516,931 (GRCm39)		probably benign	Het
Rbm10	G	A	X: 20,516,932 (GRCm39)		probably benign	Het
Ric1	A	G	19: 29,572,762 (GRCm39)	E734G	probably damaging	Het
Sec24c	T	C	14: 20,742,463 (GRCm39)	V837A	probably damaging	Het
Shoc1	T	A	4: 59,094,201 (GRCm39)	R174S	possibly damaging	Het
Sohlh2	C	T	3: 55,111,747 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,469,937 (GRCm39)	Q43*	probably null	Het
Tmem147	G	A	7: 30,427,858 (GRCm39)	R66*	probably null	Het
Tmem150c	G	T	5: 100,240,810 (GRCm39)	H51N	probably benign	Het
Usp47	A	T	7: 111,662,542 (GRCm39)	K228M	probably damaging	Het

Other mutations in Egr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0079:Egr4	UTSW	6	85,489,751 (GRCm39)	missense	probably damaging	0.99
R2274:Egr4	UTSW	6	85,489,725 (GRCm39)	missense	probably damaging	1.00
R4461:Egr4	UTSW	6	85,489,322 (GRCm39)	missense	probably damaging	1.00
R5394:Egr4	UTSW	6	85,489,442 (GRCm39)	missense	probably damaging	1.00
R7766:Egr4	UTSW	6	85,489,181 (GRCm39)	missense	probably damaging	1.00
R8066:Egr4	UTSW	6	85,489,277 (GRCm39)	missense	probably damaging	1.00
R8531:Egr4	UTSW	6	85,489,106 (GRCm39)	missense	probably damaging	1.00
R9104:Egr4	UTSW	6	85,490,337 (GRCm39)	missense	probably benign	0.28
R9471:Egr4	UTSW	6	85,489,695 (GRCm39)	missense	possibly damaging	0.46
R9628:Egr4	UTSW	6	85,489,292 (GRCm39)	missense	probably benign	0.18

Posted On

2012-12-06