Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01093:Ier5'

50243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ier5

Ensembl Gene

ENSMUSG00000056708

Gene Name

immediate early response 5

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL01093

Quality Score

Status

Chromosome

Chromosomal Location

154972113-154975382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154975139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 13 (I13T)

Ref Sequence

ENSEMBL: ENSMUSP00000056948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055322]

AlphaFold

O89113

Predicted Effect

probably damaging
Transcript: ENSMUST00000055322
AA Change: I13T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056948
Gene: ENSMUSG00000056708
AA Change: I13T

Domain	Start	End	E-Value	Type
Pfam:IER	1	211	6.2e-51	PFAM
Pfam:IER	210	308	9.8e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	C	T	13: 4,631,139 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,482,400 (GRCm39)	L69P	probably damaging	Het
C3	G	T	17: 57,530,949 (GRCm39)	P384Q	probably damaging	Het
Cobll1	T	C	2: 64,928,581 (GRCm39)	E953G	probably damaging	Het
Dnaaf9	T	C	2: 130,619,156 (GRCm39)	T281A	probably benign	Het
Dnmt1	C	T	9: 20,821,081 (GRCm39)	E1269K	possibly damaging	Het
Dync2h1	T	C	9: 7,145,611 (GRCm39)	R1012G	probably benign	Het
Fbxw24	T	A	9: 109,434,041 (GRCm39)	Q423L	probably benign	Het
Flg2	T	C	3: 93,109,678 (GRCm39)	S569P	unknown	Het
Kat6a	A	G	8: 23,429,337 (GRCm39)	D1564G	possibly damaging	Het
Lcn5	T	C	2: 25,550,729 (GRCm39)	V139A	probably benign	Het
Naca	A	G	10: 127,883,982 (GRCm39)	S2138G	probably damaging	Het
Or1j15	T	G	2: 36,458,838 (GRCm39)	V76G	probably damaging	Het
Or5p59	T	A	7: 107,702,851 (GRCm39)	S112T	probably benign	Het
Or5w14	T	G	2: 87,541,477 (GRCm39)	M258L	possibly damaging	Het
Or6c66	A	C	10: 129,461,432 (GRCm39)	F166C	probably damaging	Het
Or6c74	A	G	10: 129,869,761 (GRCm39)	T89A	probably benign	Het
Pcdhgb8	A	G	18: 37,958,089 (GRCm39)	T813A	probably damaging	Het
Pkd1l1	T	C	11: 8,851,345 (GRCm39)	T696A	probably benign	Het
Rif1	T	G	2: 51,985,960 (GRCm39)	H648Q	probably damaging	Het
Secisbp2l	C	A	2: 125,582,245 (GRCm39)	K1070N	probably benign	Het
Spock3	G	A	8: 63,801,993 (GRCm39)	R327Q	probably benign	Het
Trpm2	A	G	10: 77,768,114 (GRCm39)	I795T	probably benign	Het
Ube4b	T	C	4: 149,414,726 (GRCm39)	I1128V	probably benign	Het
Vmn1r225	A	T	17: 20,723,081 (GRCm39)	D174V	probably damaging	Het
Xpnpep3	T	A	15: 81,320,969 (GRCm39)	Y283N	possibly damaging	Het
Zfp9	C	T	6: 118,442,800 (GRCm39)	A99T	probably benign	Het
Zfp944	A	G	17: 22,562,615 (GRCm39)		probably benign	Het
Zscan4c	G	A	7: 10,743,544 (GRCm39)	C381Y	probably benign	Het

Other mutations in Ier5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Ier5	APN	1	154,974,296 (GRCm39)	missense	probably damaging	0.99
R2174:Ier5	UTSW	1	154,974,599 (GRCm39)	missense	possibly damaging	0.92
R5028:Ier5	UTSW	1	154,974,849 (GRCm39)	missense	possibly damaging	0.65
R5651:Ier5	UTSW	1	154,974,491 (GRCm39)	missense	possibly damaging	0.68
R7378:Ier5	UTSW	1	154,974,438 (GRCm39)	missense	probably damaging	1.00
R8037:Ier5	UTSW	1	154,975,175 (GRCm39)	start codon destroyed	probably null	0.99
R8431:Ier5	UTSW	1	154,974,306 (GRCm39)	missense	probably benign	0.01
R8809:Ier5	UTSW	1	154,974,716 (GRCm39)	missense	probably benign	0.03
R9074:Ier5	UTSW	1	154,974,275 (GRCm39)	missense	probably damaging	1.00
X0065:Ier5	UTSW	1	154,975,061 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21