Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03209:Ier5l'

413247

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ier5l

Ensembl Gene

ENSMUSG00000089762

Gene Name

immediate early response 5-like

Synonyms

2610524G09Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

30362643-30364211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30363067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 319 (D319E)

Ref Sequence

ENSEMBL: ENSMUSP00000132594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065134]

AlphaFold

Q99J55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065134
AA Change: D319E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132594
Gene: ENSMUSG00000089762
AA Change: D319E

Domain	Start	End	E-Value	Type
Pfam:IER	1	406	8.1e-141	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,882,973 (GRCm39)	A841V	probably benign	Het
Alms1	A	G	6: 85,576,955 (GRCm39)		probably benign	Het
Arc	A	T	15: 74,543,833 (GRCm39)	L130Q	probably damaging	Het
Arhgap28	C	T	17: 68,175,951 (GRCm39)	V383I	probably damaging	Het
Atf6	T	C	1: 170,662,463 (GRCm39)	S266G	probably benign	Het
Cd59b	A	G	2: 103,914,905 (GRCm39)	E101G	probably benign	Het
Cdc26	T	C	4: 62,313,251 (GRCm39)	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,360,937 (GRCm39)	D103G	probably null	Het
Crispld2	C	A	8: 120,757,837 (GRCm39)	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,154,195 (GRCm39)	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,725,773 (GRCm39)		probably benign	Het
Fbxw2	T	C	2: 34,712,675 (GRCm39)	R129G	probably damaging	Het
Fgd3	T	C	13: 49,439,294 (GRCm39)	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 79,888,847 (GRCm39)	T293A	probably damaging	Het
Hspa12a	T	G	19: 58,810,493 (GRCm39)		probably null	Het
Iigp1c	T	A	18: 60,379,143 (GRCm39)	I226N	probably damaging	Het
Ikzf1	T	C	11: 11,650,226 (GRCm39)	V3A	probably benign	Het
Itga2	T	C	13: 115,017,168 (GRCm39)	N180D	probably damaging	Het
Lipt1	T	C	1: 37,914,150 (GRCm39)	S69P	probably damaging	Het
Lvrn	A	G	18: 47,022,565 (GRCm39)	I734V	probably benign	Het
Man2c1	A	G	9: 57,049,114 (GRCm39)	T871A	probably benign	Het
Ndufs1	A	T	1: 63,203,896 (GRCm39)	C129S	probably damaging	Het
Neb	A	T	2: 52,180,831 (GRCm39)	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831 (GRCm38)	Y362*	probably null	Het
Or2h2c	A	T	17: 37,422,413 (GRCm39)	S154T	probably benign	Het
Or5ak23	A	T	2: 85,244,723 (GRCm39)	S167T	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Plxnd1	A	T	6: 115,939,318 (GRCm39)	M1502K	probably damaging	Het
Sccpdh	T	C	1: 179,514,238 (GRCm39)	V429A	possibly damaging	Het
Slc25a48	T	C	13: 56,618,272 (GRCm39)	V303A	probably benign	Het
Sult2a6	T	C	7: 13,959,897 (GRCm39)	D212G	probably benign	Het
Tep1	A	T	14: 51,078,160 (GRCm39)		probably benign	Het
Tmem65	A	G	15: 58,656,751 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,002,740 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,300,575 (GRCm39)	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351 (GRCm39)	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,667,238 (GRCm39)		probably null	Het
Zfhx4	A	T	3: 5,466,231 (GRCm39)	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	Het

Other mutations in Ier5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Ier5l	APN	2	30,363,966 (GRCm39)	missense	probably damaging	1.00
R2073:Ier5l	UTSW	2	30,363,068 (GRCm39)	missense	probably damaging	0.99
R4051:Ier5l	UTSW	2	30,363,324 (GRCm39)	missense	probably benign	0.32
R5727:Ier5l	UTSW	2	30,363,171 (GRCm39)	missense	possibly damaging	0.86
R8329:Ier5l	UTSW	2	30,362,861 (GRCm39)	missense	possibly damaging	0.86
R8400:Ier5l	UTSW	2	30,363,105 (GRCm39)	missense	possibly damaging	0.93
R8542:Ier5l	UTSW	2	30,362,948 (GRCm39)	missense	possibly damaging	0.52
RF035:Ier5l	UTSW	2	30,363,832 (GRCm39)	small deletion	probably benign
X0021:Ier5l	UTSW	2	30,363,832 (GRCm39)	small deletion	probably benign

Posted On

2016-08-02