Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01925:Il9'

180282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il9

Ensembl Gene

ENSMUSG00000021538

Gene Name

interleukin 9

Synonyms

Il-9, P40

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01925

Quality Score

Status

Chromosome

Chromosomal Location

56627090-56630059 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 56629684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022019]

AlphaFold

P15247

Predicted Effect

probably benign
Transcript: ENSMUST00000022019

SMART Domains

Protein: ENSMUSP00000022019
Gene: ENSMUSG00000021538

Domain	Start	End	E-Value	Type
Pfam:IL7	15	141	1.6e-46	PFAM

Meta Mutation Damage Score

0.0898

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 acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and show no overt phenotype, however when challenged, aspects of the inflammatory response are shown to be impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,019,459 (GRCm39)	D124G	probably damaging	Het
Arap3	C	T	18: 38,117,299 (GRCm39)	V926I	probably benign	Het
Catspere2	T	A	1: 177,842,687 (GRCm39)		probably benign	Het
Col6a3	C	T	1: 90,729,958 (GRCm39)	V1176M	possibly damaging	Het
D5Ertd579e	A	T	5: 36,771,628 (GRCm39)	D922E	possibly damaging	Het
Dipk2a	A	C	9: 94,402,509 (GRCm39)	D384E	probably damaging	Het
Epm2a	T	A	10: 11,324,502 (GRCm39)	I197N	possibly damaging	Het
Faim	T	G	9: 98,872,972 (GRCm39)		probably benign	Het
Fkbp15	A	G	4: 62,241,450 (GRCm39)	I565T	probably damaging	Het
Fli1	G	A	9: 32,377,127 (GRCm39)	P47L	probably damaging	Het
Gli2	T	C	1: 118,781,106 (GRCm39)	K187R	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hspa5	G	A	2: 34,664,730 (GRCm39)	V395I	probably benign	Het
Ide	T	C	19: 37,255,296 (GRCm39)	T836A	unknown	Het
Ints8	C	T	4: 11,235,617 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,389,245 (GRCm39)	H2060L	probably benign	Het
Mok	T	C	12: 110,774,646 (GRCm39)	N208S	probably benign	Het
Morn3	T	C	5: 123,184,825 (GRCm39)	K5R	probably damaging	Het
Nalcn	C	T	14: 123,529,260 (GRCm39)	C1405Y	possibly damaging	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Ninl	A	T	2: 150,812,979 (GRCm39)	C226S	probably damaging	Het
Onecut2	T	C	18: 64,474,585 (GRCm39)	W360R	probably damaging	Het
Or10al4	A	G	17: 38,037,002 (GRCm39)	E29G	probably benign	Het
Or13f5	A	G	4: 52,825,910 (GRCm39)	N171S	probably benign	Het
Or1af1	A	G	2: 37,110,058 (GRCm39)	T186A	probably benign	Het
Or2d3b	T	A	7: 106,514,235 (GRCm39)	F277I	probably damaging	Het
Or2w2	T	C	13: 21,758,341 (GRCm39)	D95G	possibly damaging	Het
Or51e1	T	C	7: 102,359,410 (GRCm39)	S315P	probably damaging	Het
Rai14	A	G	15: 10,595,948 (GRCm39)	S118P	possibly damaging	Het
Serpinb7	T	C	1: 107,379,399 (GRCm39)	S269P	probably benign	Het
Sesn3	C	T	9: 14,231,696 (GRCm39)	T209I	probably damaging	Het
Slit1	T	A	19: 41,596,817 (GRCm39)	N1094I	probably damaging	Het
Tep1	C	T	14: 51,061,955 (GRCm39)		probably benign	Het
Top1mt	A	G	15: 75,528,992 (GRCm39)	F584S	possibly damaging	Het
Trim44	A	T	2: 102,230,362 (GRCm39)	L223Q	probably benign	Het
Trim69	T	A	2: 121,998,397 (GRCm39)	L123Q	probably damaging	Het
Ubr2	A	T	17: 47,265,875 (GRCm39)	L1153I	possibly damaging	Het
Unc13a	G	A	8: 72,087,187 (GRCm39)	T1520I	possibly damaging	Het
Vmn2r105	A	C	17: 20,428,973 (GRCm39)	I701S	possibly damaging	Het
Wrn	T	C	8: 33,809,208 (GRCm39)	T263A	probably benign	Het
Yeats2	T	G	16: 19,998,430 (GRCm39)		probably benign	Het
Ythdf2	T	C	4: 131,938,085 (GRCm39)	Y37C	probably damaging	Het
Zfp169	T	C	13: 48,644,239 (GRCm39)		probably benign	Het

Other mutations in Il9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0680:Il9	UTSW	13	56,629,693 (GRCm39)	missense	probably benign
R1722:Il9	UTSW	13	56,627,208 (GRCm39)	missense	probably benign	0.06
R2437:Il9	UTSW	13	56,629,684 (GRCm39)	splice site	probably benign
R3718:Il9	UTSW	13	56,627,264 (GRCm39)	missense	probably damaging	0.99
R6058:Il9	UTSW	13	56,628,495 (GRCm39)	missense	possibly damaging	0.95
R7139:Il9	UTSW	13	56,628,426 (GRCm39)	missense	probably benign	0.00
R8236:Il9	UTSW	13	56,630,058 (GRCm39)	start gained	probably benign
R8808:Il9	UTSW	13	56,629,942 (GRCm39)	nonsense	probably null
R9104:Il9	UTSW	13	56,628,401 (GRCm39)	missense	possibly damaging	0.92

Posted On

2014-05-07