Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02258:Fosl2'

286651

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fosl2

Ensembl Gene

ENSMUSG00000029135

Gene Name

fos-like antigen 2

Synonyms

Fra-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02258

Quality Score

Status

Chromosome

Chromosomal Location

32293145-32315186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32304259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 65 (Q65K)

Ref Sequence

ENSEMBL: ENSMUSP00000031017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031017]

AlphaFold

P47930

Predicted Effect

probably damaging
Transcript: ENSMUST00000031017
AA Change: Q65K

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

SMART Domains

Protein: ENSMUSP00000031017
Gene: ENSMUSG00000029135
AA Change: Q65K

Domain	Start	End	E-Value	Type
BRLZ	122	186	9.34e-15	SMART
low complexity region	224	234	N/A	INTRINSIC
low complexity region	291	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202169

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die within one week after birth and show postnatal growth retardation. Further analysis of one allele showed abnormal cartilage development, with delayed bone ossification and impaired chondrocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Diaph1	G	T	18: 37,986,383 (GRCm39)	R1166S	probably damaging	Het
H2bc8	G	T	13: 23,755,609 (GRCm39)	M1I	probably null	Het
Il18	A	G	9: 50,488,003 (GRCm39)	N29S	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or7g30	T	A	9: 19,352,293 (GRCm39)	F28Y	possibly damaging	Het
Or7g30	A	T	9: 19,352,295 (GRCm39)	T29S	probably benign	Het
Psg16	A	G	7: 16,829,217 (GRCm39)	D267G	probably damaging	Het

Other mutations in Fosl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1275:Fosl2	UTSW	5	32,307,798 (GRCm39)	missense	probably damaging	1.00
R1438:Fosl2	UTSW	5	32,304,329 (GRCm39)	missense	probably damaging	1.00
R5982:Fosl2	UTSW	5	32,304,217 (GRCm39)	missense	probably benign	0.02
R6882:Fosl2	UTSW	5	32,310,208 (GRCm39)	missense	possibly damaging	0.93
R7423:Fosl2	UTSW	5	32,307,807 (GRCm39)	missense	probably damaging	1.00
R8145:Fosl2	UTSW	5	32,310,412 (GRCm39)	missense	probably damaging	1.00
R9140:Fosl2	UTSW	5	32,310,042 (GRCm39)	missense	probably damaging	0.99
R9340:Fosl2	UTSW	5	32,304,379 (GRCm39)	missense	probably benign
Z1177:Fosl2	UTSW	5	32,310,277 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16