Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00869:Il36a'

11442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il36a

Ensembl Gene

ENSMUSG00000026984

Gene Name

interleukin 36A

Synonyms

Fil1epsilon, IL-1H1, If36a, Il1f6, Fil1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00869

Quality Score

Status

Chromosome

Chromosomal Location

24105429-24115713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24106592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000028361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028361]

AlphaFold

Q9JLA2

Predicted Effect

probably benign
Transcript: ENSMUST00000028361
AA Change: T59A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028361
Gene: ENSMUSG00000026984
AA Change: T59A

Domain	Start	End	E-Value	Type
IL1	14	157	4.09e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144442

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	T	C	2: 113,665,171 (GRCm39)	T476A	probably damaging	Het
AW551984	A	G	9: 39,504,730 (GRCm39)		probably benign	Het
Gcn1	T	A	5: 115,726,202 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Nrm	A	G	17: 36,175,647 (GRCm39)	H251R	probably benign	Het
Sp7	G	T	15: 102,267,086 (GRCm39)	A240E	probably benign	Het
Speer4b	T	C	5: 27,703,716 (GRCm39)	K141R	probably damaging	Het
Tmem132c	C	T	5: 127,640,306 (GRCm39)	H826Y	possibly damaging	Het

Other mutations in Il36a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1109:Il36a	UTSW	2	24,106,602 (GRCm39)	missense	probably damaging	1.00
R4657:Il36a	UTSW	2	24,114,416 (GRCm39)	missense	possibly damaging	0.54
R4879:Il36a	UTSW	2	24,106,032 (GRCm39)	missense	probably benign	0.06
R5213:Il36a	UTSW	2	24,114,486 (GRCm39)	missense	probably damaging	1.00
R6555:Il36a	UTSW	2	24,114,611 (GRCm39)	critical splice donor site	probably null
R7779:Il36a	UTSW	2	24,106,613 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06