Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Egr4'

598236

Institutional Source

Beutler Lab

Gene Symbol

Egr4

Ensembl Gene

ENSMUSG00000071341

Gene Name

early growth response 4

Synonyms

pAT133, NGF1-C, NGFI-C

MMRRC Submission

045822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85488103-85490571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85489181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 293 (G293D)

Ref Sequence

ENSEMBL: ENSMUSP00000093433 (fasta)

Gene Model

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

AlphaFold

Q9WUF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095759
AA Change: G293D

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

SMART Domains

Protein: ENSMUSP00000093433
Gene: ENSMUSG00000071341
AA Change: G293D

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

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

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,300 (GRCm39)	F58S	probably benign	Het
Abca2	T	A	2: 25,331,540 (GRCm39)	M1309K	probably benign	Het
Ascc1	A	T	10: 59,840,641 (GRCm39)	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,506,880 (GRCm39)	S182R	probably damaging	Het
Cnpy3	G	T	17: 47,048,161 (GRCm39)	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,827 (GRCm39)	Y25H	probably damaging	Het
Dscam	A	T	16: 96,592,101 (GRCm39)	F725I	probably benign	Het
Duox1	T	C	2: 122,167,782 (GRCm39)	F1022L	probably benign	Het
Ednrb	A	G	14: 104,080,725 (GRCm39)	L63P	probably benign	Het
Fv1	T	A	4: 147,953,727 (GRCm39)	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,286,908 (GRCm39)	S169F	probably damaging	Het
Hexim2	C	G	11: 103,029,838 (GRCm39)	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,492,293 (GRCm39)	T314I	unknown	Het
Ift88	T	C	14: 57,685,111 (GRCm39)	F309S	possibly damaging	Het
Ins2	T	A	7: 142,232,494 (GRCm39)	T97S	probably benign	Het
Itga2	T	C	13: 114,990,427 (GRCm39)	I905V	probably benign	Het
Itgb8	T	C	12: 119,127,094 (GRCm39)	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna6	T	A	6: 126,716,682 (GRCm39)	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,846 (GRCm39)	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,766,042 (GRCm39)	T175S	probably benign	Het
Morc2b	A	T	17: 33,357,397 (GRCm39)	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,427,352 (GRCm39)	M24L	probably benign	Het
Myh13	A	C	11: 67,249,155 (GRCm39)	S1292R	probably benign	Het
Nat10	T	C	2: 103,556,052 (GRCm39)	D923G	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,326,333 (GRCm39)	I2425M	probably benign	Het
Oasl1	G	T	5: 115,075,169 (GRCm39)	A410S	probably damaging	Het
Or52d1	T	A	7: 103,756,201 (GRCm39)	C238*	probably null	Het
Or5p80	C	T	7: 108,229,583 (GRCm39)	S128F	probably benign	Het
Or9g4b	T	A	2: 85,616,002 (GRCm39)	I49N	probably damaging	Het
Padi6	T	C	4: 140,458,286 (GRCm39)	K507E	probably benign	Het
Pdcl2	T	C	5: 76,465,743 (GRCm39)	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,736,809 (GRCm39)	K445E	probably benign	Het
Plxnb2	A	G	15: 89,045,474 (GRCm39)	S1028P	probably benign	Het
Polb	T	C	8: 23,143,107 (GRCm39)	S30G	probably benign	Het
Pramel23	T	A	4: 143,425,809 (GRCm39)	I45F	probably damaging	Het
Slc17a6	A	T	7: 51,318,914 (GRCm39)	I519F	probably benign	Het
Tacc2	C	T	7: 130,345,328 (GRCm39)	H2582Y	probably damaging	Het
Tmem176a	A	T	6: 48,821,116 (GRCm39)		probably null	Het
Tnr	A	T	1: 159,715,880 (GRCm39)	T881S	probably benign	Het
Trp63	A	T	16: 25,686,969 (GRCm39)	R394S	probably damaging	Het
Tsga8	A	G	X: 82,530,704 (GRCm39)	L135P	unknown	Het
Ttn	T	C	2: 76,645,042 (GRCm39)	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,149,061 (GRCm39)	D104V	possibly damaging	Het
Usp28	T	C	9: 48,947,183 (GRCm39)	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,371,219 (GRCm39)	V609E	probably damaging	Het
Zfp180	A	G	7: 23,804,084 (GRCm39)	S168G	probably benign	Het

Other mutations in Egr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Egr4	APN	6	85,489,487 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTTAGGTGCACCTTGC -3'
(R):5'- TCTCTGCAGTAGGGACCAAG -3'

Sequencing Primer
(F):5'- CACTGGAAGGGCTTGTGGC -3'
(R):5'- TAGGGACCAAGGTCGAGGAC -3'

Posted On

2019-11-26