Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02297:Il20'

290196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il20

Ensembl Gene

ENSMUSG00000026416

Gene Name

interleukin 20

Synonyms

Zcyto10

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02297

Quality Score

Status

Chromosome

Chromosomal Location

130834722-130839033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130836145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 133 (H133Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027673] [ENSMUST00000188581]

AlphaFold

Q9JKV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027673
AA Change: H133Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027673
Gene: ENSMUSG00000026416
AA Change: H133Y

Domain	Start	End	E-Value	Type
IL10	35	176	3.89e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188581
AA Change: H111Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141088
Gene: ENSMUSG00000026416
AA Change: H111Y

Domain	Start	End	E-Value	Type
Pfam:IL10	35	154	1.9e-8	PFAM

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 structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show an increased inflammatory response in contact hypersensitivity assays. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm2	C	T	10: 61,571,327 (GRCm39)	A287V	possibly damaging	Het
Aqr	A	G	2: 113,980,962 (GRCm39)	I273T	probably benign	Het
Arid3c	T	C	4: 41,730,021 (GRCm39)	E58G	possibly damaging	Het
Col5a3	G	T	9: 20,683,450 (GRCm39)	T1574K	unknown	Het
Dbh	T	C	2: 27,067,748 (GRCm39)	V457A	probably benign	Het
Gm12888	T	C	4: 121,181,996 (GRCm39)	E32G	probably damaging	Het
Gnaq	A	G	19: 16,355,615 (GRCm39)	D277G	probably damaging	Het
Itpr1	T	A	6: 108,316,478 (GRCm39)	F58L	possibly damaging	Het
Lynx1	G	T	15: 74,623,491 (GRCm39)	Q19K	probably benign	Het
Lyst	G	T	13: 13,812,677 (GRCm39)	E1030*	probably null	Het
Matn1	T	A	4: 130,679,575 (GRCm39)		probably benign	Het
Nav2	A	T	7: 49,243,977 (GRCm39)	N2068I	probably damaging	Het
Or5b3	C	T	19: 13,388,839 (GRCm39)	T302I	probably benign	Het
Or8g30	T	C	9: 39,229,999 (GRCm39)	I304V	possibly damaging	Het
Slc25a23	G	T	17: 57,360,324 (GRCm39)	Q273K	probably benign	Het
Slco4a1	T	G	2: 180,106,282 (GRCm39)	C155G	probably benign	Het
Txnip	T	C	3: 96,465,673 (GRCm39)	V41A	probably damaging	Het
Wnt16	C	A	6: 22,297,990 (GRCm39)	Y285*	probably null	Het

Other mutations in Il20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:Il20	APN	1	130,838,839 (GRCm39)	missense	probably damaging	0.98
IGL02322:Il20	APN	1	130,837,313 (GRCm39)	missense	probably damaging	1.00
R0627:Il20	UTSW	1	130,837,476 (GRCm39)	splice site	probably benign
R0885:Il20	UTSW	1	130,838,518 (GRCm39)	missense	probably benign	0.21
R1659:Il20	UTSW	1	130,836,086 (GRCm39)	splice site	probably null
R2037:Il20	UTSW	1	130,836,115 (GRCm39)	missense	probably damaging	0.99
R2199:Il20	UTSW	1	130,838,476 (GRCm39)	missense	probably benign	0.01
R5632:Il20	UTSW	1	130,835,165 (GRCm39)	missense	probably benign	0.19
R6039:Il20	UTSW	1	130,838,478 (GRCm39)	missense	possibly damaging	0.65
R6039:Il20	UTSW	1	130,838,478 (GRCm39)	missense	possibly damaging	0.65
R6155:Il20	UTSW	1	130,838,477 (GRCm39)	missense	probably damaging	0.98
R6340:Il20	UTSW	1	130,836,118 (GRCm39)	missense	probably benign	0.30
R8675:Il20	UTSW	1	130,835,172 (GRCm39)	missense	probably damaging	1.00
Z1177:Il20	UTSW	1	130,839,124 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16