Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Il1r1'

89818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il1r1

Ensembl Gene

ENSMUSG00000026072

Gene Name

interleukin 1 receptor, type I

Synonyms

IL-1R1, IL-iR, CD121a, IL-1 receptor alpha chain, Il1r-1

Accession Numbers

Genbank: NM_008362, NM_001123382

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

40225080-40317257 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 40294928 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027241] [ENSMUST00000114795]

Predicted Effect

probably null
Transcript: ENSMUST00000027241

SMART Domains

Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	38	117	2.94e-1	SMART
IG_like	132	218	5.56e0	SMART
IG	236	333	1.35e0	SMART
Blast:TIR	347	381	1e-7	BLAST
TIR	387	544	1.93e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114795

SMART Domains

Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IG	35	114	2.94e-1	SMART
IG_like	129	215	5.56e0	SMART
IG	233	330	1.35e0	SMART
Blast:TIR	344	378	1e-7	BLAST
TIR	384	541	1.93e-29	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Il1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Il1r1	APN	1	40313170	missense	probably damaging	1.00
IGL01610:Il1r1	APN	1	40302400	missense	probably benign	0.09
IGL01668:Il1r1	APN	1	40313329	missense	probably benign	0.31
IGL01729:Il1r1	APN	1	40294826	missense	probably damaging	1.00
IGL02201:Il1r1	APN	1	40313268	missense	probably damaging	0.97
IGL02229:Il1r1	APN	1	40313358	missense	probably damaging	0.99
IGL02428:Il1r1	APN	1	40313232	missense	possibly damaging	0.74
IGL02902:Il1r1	APN	1	40302409	missense	probably benign	0.09
G5030:Il1r1	UTSW	1	40313163	missense	possibly damaging	0.80
R0604:Il1r1	UTSW	1	40282246	missense	probably benign	0.36
R1515:Il1r1	UTSW	1	40293349	nonsense	probably null
R1530:Il1r1	UTSW	1	40312361	missense	probably benign	0.00
R1727:Il1r1	UTSW	1	40293264	missense	probably benign	0.16
R1957:Il1r1	UTSW	1	40313140	nonsense	probably null
R2163:Il1r1	UTSW	1	40294863	missense	probably benign	0.00
R2313:Il1r1	UTSW	1	40313310	missense	probably benign	0.19
R4345:Il1r1	UTSW	1	40297924	missense	probably benign	0.00
R4622:Il1r1	UTSW	1	40312420	missense	probably damaging	0.96
R4735:Il1r1	UTSW	1	40293295	missense	probably benign	0.00
R5033:Il1r1	UTSW	1	40293524	missense	probably damaging	1.00
R5586:Il1r1	UTSW	1	40225251	start gained	probably benign
R6375:Il1r1	UTSW	1	40294890	missense	probably damaging	1.00
R6383:Il1r1	UTSW	1	40313335	missense	possibly damaging	0.58
R6618:Il1r1	UTSW	1	40300811	missense	probably damaging	0.97
R7169:Il1r1	UTSW	1	40293359	critical splice donor site	probably null
R7384:Il1r1	UTSW	1	40282261	missense	possibly damaging	0.64
R7798:Il1r1	UTSW	1	40310366	missense	probably benign
R8040:Il1r1	UTSW	1	40313349	missense	probably benign	0.01
R8129:Il1r1	UTSW	1	40302287	missense	probably benign	0.04
RF007:Il1r1	UTSW	1	40313278	missense	probably damaging	1.00

Posted On

2013-12-03