Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02695:Il1rl1'

303893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il1rl1

Ensembl Gene

ENSMUSG00000026069

Gene Name

interleukin 1 receptor-like 1

Synonyms

T1 gene, St2-rs1, ST2, T1, T1/ST2, Ly84, Fit-1, DER4, St2, ST2L

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02695

Quality Score

Status

Chromosome

Chromosomal Location

40429570-40465415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40446558 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 290 (S290P)

Ref Sequence

ENSEMBL: ENSMUSP00000134351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053043] [ENSMUST00000097772] [ENSMUST00000173514] [ENSMUST00000174335]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053043
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: S290P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART
transmembrane domain	333	355	N/A	INTRINSIC
TIR	381	543	4.23e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097772
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: S290P

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART
transmembrane domain	333	355	N/A	INTRINSIC
TIR	381	543	4.23e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173514
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: S290P

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174335
AA Change: S290P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: S290P

Domain	Start	End	E-Value	Type
IGc2	33	100	7.35e-11	SMART
IGc2	130	194	8.85e-5	SMART
IG_like	225	326	2.66e1	SMART

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 member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,050,480	M389K	probably benign	Het
Adamts4	C	A	1: 171,252,634	T252K	probably damaging	Het
Adgrb2	G	A	4: 130,018,832	G1293D	probably damaging	Het
Ankfn1	T	C	11: 89,391,819	E1013G	probably damaging	Het
Ankrd34b	C	A	13: 92,439,612	H451N	possibly damaging	Het
Cd300c2	C	T	11: 115,001,553		probably benign	Het
Cntnap3	T	G	13: 64,772,132	Q637P	probably benign	Het
Cpne6	A	T	14: 55,514,580	I265F	probably damaging	Het
Dot1l	C	A	10: 80,777,608	T18K	probably damaging	Het
Fam83c	T	C	2: 155,831,515	D251G	probably benign	Het
Fyb	A	G	15: 6,580,921	K325R	probably damaging	Het
Gas2l2	T	A	11: 83,422,642	I615F	probably damaging	Het
Gigyf2	A	G	1: 87,416,827	N494S	probably benign	Het
Gm6614	A	G	6: 141,987,760	V433A	probably damaging	Het
Gnaz	T	C	10: 74,992,142		probably null	Het
Haus5	A	T	7: 30,663,277	L36Q	probably damaging	Het
Hecw2	C	T	1: 53,926,209	G486D	possibly damaging	Het
Hmcn2	T	C	2: 31,408,973	F2777S	possibly damaging	Het
Itgam	G	T	7: 128,085,941	A409S	possibly damaging	Het
Kdm5b	T	A	1: 134,604,485	M467K	possibly damaging	Het
Lama2	A	C	10: 27,000,775	V2725G	probably benign	Het
Lhpp	G	A	7: 132,650,334	R234Q	probably damaging	Het
Maf1	T	C	15: 76,352,755	S65P	possibly damaging	Het
Mgat5	T	A	1: 127,412,131	H416Q	probably damaging	Het
Mta2	A	G	19: 8,948,364	T408A	probably benign	Het
Neb	T	A	2: 52,255,591	I2974F	probably damaging	Het
Neb	C	T	2: 52,211,596		probably benign	Het
Olfr153	C	T	2: 87,532,117	T28I	probably benign	Het
Olfr348	C	T	2: 36,787,320	S265L	possibly damaging	Het
Olfr656	A	G	7: 104,618,471	H264R	probably damaging	Het
Olfr710	A	G	7: 106,944,663	S113P	possibly damaging	Het
Pcca	T	A	14: 122,582,738		probably benign	Het
Prlr	T	C	15: 10,328,365	F309L	probably benign	Het
Slc28a1	A	T	7: 81,167,991	Y536F	probably benign	Het
Stab1	T	A	14: 31,159,271	N601Y	probably damaging	Het
Stil	G	T	4: 115,016,175	V332F	probably damaging	Het
Stk11	A	G	10: 80,125,477		probably null	Het
Tmem59	A	G	4: 107,193,314	N147S	probably benign	Het

Other mutations in Il1rl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Il1rl1	APN	1	40446216	missense	possibly damaging	0.75
IGL01413:Il1rl1	APN	1	40446169	missense	possibly damaging	0.85
IGL01939:Il1rl1	APN	1	40462008	missense	possibly damaging	0.80
IGL02121:Il1rl1	APN	1	40442303	splice site	probably benign
IGL02160:Il1rl1	APN	1	40461837	missense	probably benign	0.00
R0007:Il1rl1	UTSW	1	40446171	missense	possibly damaging	0.95
R0105:Il1rl1	UTSW	1	40442574	splice site	probably benign
R0200:Il1rl1	UTSW	1	40441303	missense	possibly damaging	0.95
R0363:Il1rl1	UTSW	1	40442574	splice site	probably benign
R0508:Il1rl1	UTSW	1	40451717	missense	possibly damaging	0.87
R0637:Il1rl1	UTSW	1	40442574	splice site	probably benign
R0676:Il1rl1	UTSW	1	40442574	splice site	probably benign
R1371:Il1rl1	UTSW	1	40442713	missense	probably damaging	0.96
R2074:Il1rl1	UTSW	1	40462044	missense	probably damaging	0.99
R2309:Il1rl1	UTSW	1	40442657	missense	possibly damaging	0.46
R2426:Il1rl1	UTSW	1	40446619	missense	probably damaging	1.00
R3983:Il1rl1	UTSW	1	40446663	missense	possibly damaging	0.73
R4601:Il1rl1	UTSW	1	40441300	missense	possibly damaging	0.88
R4707:Il1rl1	UTSW	1	40450188	missense	probably damaging	0.96
R4720:Il1rl1	UTSW	1	40446678	missense	probably benign	0.24
R4784:Il1rl1	UTSW	1	40450188	missense	probably damaging	0.96
R5137:Il1rl1	UTSW	1	40450125	missense	probably benign
R5765:Il1rl1	UTSW	1	40461943	missense	probably benign	0.06
R5953:Il1rl1	UTSW	1	40442673	missense	probably benign	0.05
R6339:Il1rl1	UTSW	1	40461856	missense	possibly damaging	0.88
R7176:Il1rl1	UTSW	1	40446606	missense	probably damaging	1.00
R7677:Il1rl1	UTSW	1	40446704	makesense	probably null
R8129:Il1rl1	UTSW	1	40451827	missense	probably damaging	0.98

Posted On

2015-04-16