Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Ier5'

653730

Institutional Source

Beutler Lab

Gene Symbol

Ier5

Ensembl Gene

ENSMUSG00000056708

Gene Name

immediate early response 5

Synonyms

MMRRC Submission

067776-MU

Accession Numbers

Essential gene?

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

Stock #

R8431 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

154972113-154975382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154974306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 291 (D291Y)

Ref Sequence

ENSEMBL: ENSMUSP00000056948 (fasta)

Gene Model

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

AlphaFold

O89113

Predicted Effect

probably benign
Transcript: ENSMUST00000055322
AA Change: D291Y

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056948
Gene: ENSMUSG00000056708
AA Change: D291Y

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,873 (GRCm39)	F273S		Het
Abhd14b	G	T	9: 106,328,612 (GRCm39)	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,181,228 (GRCm39)	P51L	probably benign	Het
Adap1	A	C	5: 139,259,180 (GRCm39)	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,248 (GRCm39)	N172S	probably damaging	Het
Arhgap24	A	G	5: 103,040,464 (GRCm39)	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,614,227 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Card6	A	T	15: 5,129,758 (GRCm39)	F546Y	probably damaging	Het
Cby3	T	G	11: 50,250,084 (GRCm39)	S2A	probably damaging	Het
Cct3	T	C	3: 88,225,831 (GRCm39)	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316 (GRCm39)	A408S	probably damaging	Het
Ctsr	A	C	13: 61,308,304 (GRCm39)	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Dlg4	A	G	11: 69,930,388 (GRCm39)	I388V	probably benign	Het
Ednrb	T	A	14: 104,080,633 (GRCm39)	I94F	probably benign	Het
Eftud2	C	A	11: 102,737,062 (GRCm39)	A573S	probably benign	Het
Fsip2	C	A	2: 82,811,910 (GRCm39)	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Ifi207	T	C	1: 173,558,070 (GRCm39)	I223V	unknown	Het
Ifi208	T	C	1: 173,510,844 (GRCm39)	V333A	possibly damaging	Het
Kank4	T	C	4: 98,667,509 (GRCm39)	I313V	probably benign	Het
Klhl7	T	C	5: 24,343,473 (GRCm39)	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,605,122 (GRCm39)	D314G	probably benign	Het
Lrr1	T	C	12: 69,225,470 (GRCm39)	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,830,190 (GRCm39)	Q48L	probably benign	Het
Marchf6	C	T	15: 31,505,892 (GRCm39)	W43*	probably null	Het
Mepe	A	G	5: 104,486,047 (GRCm39)	T396A	possibly damaging	Het
Myh8	T	G	11: 67,174,440 (GRCm39)	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,379,732 (GRCm39)		probably null	Het
Nek1	C	A	8: 61,487,066 (GRCm39)	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,199,767 (GRCm39)	Y384C	probably damaging	Het
Or4c118	C	A	2: 88,974,723 (GRCm39)	V215F	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Phf2	A	G	13: 48,975,078 (GRCm39)	F294S	unknown	Het
Polr3e	A	T	7: 120,530,528 (GRCm39)	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,671,952 (GRCm39)	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456 (GRCm39)	S860T	probably benign	Het
Rnf144a	T	C	12: 26,377,300 (GRCm39)	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,673,894 (GRCm39)	E3390G	probably benign	Het
Scn7a	T	C	2: 66,534,164 (GRCm39)	T504A	possibly damaging	Het
Slc26a5	T	G	5: 22,018,904 (GRCm39)	D645A	probably damaging	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Ston2	T	A	12: 91,615,071 (GRCm39)	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,530,314 (GRCm39)	P57S	probably damaging	Het
Th	G	T	7: 142,446,801 (GRCm39)	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,095,661 (GRCm39)	I61N	probably benign	Het
Wdtc1	A	G	4: 133,049,481 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 52,983,937 (GRCm39)	N596S	probably benign	Het

Other mutations in Ier5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Ier5	APN	1	154,975,139 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAGACTCGAGAGCCACGG -3'
(R):5'- CGGCTCTACCCCTCTCAAGAAG -3'

Sequencing Primer
(F):5'- CGGCAGCAACCAGTCTC -3'
(R):5'- TCTCAAGAAGCCGCGCC -3'

Posted On

2020-10-20