Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03307:Il18rap'

416418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il18rap

Ensembl Gene

ENSMUSG00000026068

Gene Name

interleukin 18 receptor accessory protein

Synonyms

AcPL accessory protein-like)

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03307

Quality Score

Status

Chromosome

Chromosomal Location

40554522-40590865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40582227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 383 (Y383H)

Ref Sequence

ENSEMBL: ENSMUSP00000027237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027237]

AlphaFold

Q9Z2B1

Predicted Effect

probably benign
Transcript: ENSMUST00000027237
AA Change: Y383H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: Y383H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:IG_like	31	144	2e-36	BLAST
IG	159	240	2.94e0	SMART
IG	257	354	1.35e0	SMART
transmembrane domain	363	385	N/A	INTRINSIC
TIR	406	561	3.68e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163057

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,425,823 (GRCm39)	I417T	possibly damaging	Het
Arrdc1	A	T	2: 24,816,354 (GRCm39)	I205N	probably damaging	Het
Atp6v1a	A	G	16: 43,931,922 (GRCm39)	V122A	possibly damaging	Het
Atp8a2	A	G	14: 60,253,321 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,226,872 (GRCm39)	H111R	probably damaging	Het
Cpsf3	T	A	12: 21,346,715 (GRCm39)	I196N	possibly damaging	Het
Cyp2b9	C	T	7: 25,898,476 (GRCm39)	S277L	probably benign	Het
Grik3	T	C	4: 125,535,347 (GRCm39)	M248T	possibly damaging	Het
Gusb	T	C	5: 130,028,872 (GRCm39)	*145W	probably null	Het
Lama4	T	C	10: 38,893,379 (GRCm39)	V162A	probably benign	Het
Macc1	A	T	12: 119,410,155 (GRCm39)	M308L	probably benign	Het
Or52s1b	C	T	7: 102,822,623 (GRCm39)	V74I	probably benign	Het
Or8g27	A	T	9: 39,129,309 (GRCm39)	I219F	probably benign	Het
Postn	A	G	3: 54,282,548 (GRCm39)	D503G	probably benign	Het
Robo3	A	T	9: 37,333,860 (GRCm39)	V658D	probably damaging	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Setd1b	C	A	5: 123,286,734 (GRCm39)	D593E	unknown	Het
Slc2a13	C	T	15: 91,160,317 (GRCm39)	V546M	probably damaging	Het
Spock1	T	C	13: 57,577,160 (GRCm39)	D423G	probably null	Het
Stox2	T	C	8: 47,647,065 (GRCm39)	T132A	probably damaging	Het
Tle2	T	C	10: 81,426,074 (GRCm39)	S703P	probably damaging	Het
Trgc1	A	G	13: 19,398,528 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,580,304 (GRCm39)	I750T	possibly damaging	Het
Vmn2r107	A	T	17: 20,577,038 (GRCm39)	K345N	probably benign	Het
Vmn2r60	T	C	7: 41,765,971 (GRCm39)	V26A	probably benign	Het
Vmn2r98	G	A	17: 19,286,242 (GRCm39)	V247I	possibly damaging	Het
Zan	A	G	5: 137,472,287 (GRCm39)	V153A	probably damaging	Het

Other mutations in Il18rap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Il18rap	APN	1	40,581,081 (GRCm39)	missense	probably benign	0.03
IGL01467:Il18rap	APN	1	40,587,799 (GRCm39)	missense	probably damaging	1.00
IGL01505:Il18rap	APN	1	40,576,244 (GRCm39)	missense	probably damaging	0.97
IGL02215:Il18rap	APN	1	40,587,082 (GRCm39)	missense	probably damaging	1.00
BB006:Il18rap	UTSW	1	40,570,740 (GRCm39)	missense	probably damaging	1.00
BB007:Il18rap	UTSW	1	40,587,803 (GRCm39)	missense	probably damaging	0.99
BB016:Il18rap	UTSW	1	40,570,740 (GRCm39)	missense	probably damaging	1.00
BB017:Il18rap	UTSW	1	40,587,803 (GRCm39)	missense	probably damaging	0.99
R0136:Il18rap	UTSW	1	40,564,218 (GRCm39)	missense	probably benign	0.04
R0299:Il18rap	UTSW	1	40,564,218 (GRCm39)	missense	probably benign	0.04
R0358:Il18rap	UTSW	1	40,588,202 (GRCm39)	missense	possibly damaging	0.53
R0499:Il18rap	UTSW	1	40,564,218 (GRCm39)	missense	probably benign	0.04
R0830:Il18rap	UTSW	1	40,582,150 (GRCm39)	missense	probably damaging	1.00
R1386:Il18rap	UTSW	1	40,570,682 (GRCm39)	missense	probably benign	0.00
R1817:Il18rap	UTSW	1	40,570,687 (GRCm39)	missense	probably benign	0.04
R1818:Il18rap	UTSW	1	40,570,687 (GRCm39)	missense	probably benign	0.04
R1819:Il18rap	UTSW	1	40,570,687 (GRCm39)	missense	probably benign	0.04
R3721:Il18rap	UTSW	1	40,576,248 (GRCm39)	missense	probably damaging	1.00
R5634:Il18rap	UTSW	1	40,578,536 (GRCm39)	intron	probably benign
R5663:Il18rap	UTSW	1	40,570,717 (GRCm39)	missense	probably damaging	1.00
R5690:Il18rap	UTSW	1	40,576,272 (GRCm39)	missense	possibly damaging	0.73
R5825:Il18rap	UTSW	1	40,570,726 (GRCm39)	missense	probably benign	0.38
R6140:Il18rap	UTSW	1	40,564,212 (GRCm39)	missense	probably benign	0.04
R6291:Il18rap	UTSW	1	40,564,049 (GRCm39)	missense	probably benign	0.00
R6859:Il18rap	UTSW	1	40,564,255 (GRCm39)	nonsense	probably null
R6992:Il18rap	UTSW	1	40,581,195 (GRCm39)	missense	probably benign	0.00
R7317:Il18rap	UTSW	1	40,564,536 (GRCm39)	missense	probably damaging	0.98
R7402:Il18rap	UTSW	1	40,564,111 (GRCm39)	missense	probably benign	0.01
R7465:Il18rap	UTSW	1	40,582,249 (GRCm39)	missense	probably damaging	1.00
R7561:Il18rap	UTSW	1	40,563,537 (GRCm39)	missense	probably benign	0.00
R7929:Il18rap	UTSW	1	40,570,740 (GRCm39)	missense	probably damaging	1.00
R7930:Il18rap	UTSW	1	40,587,803 (GRCm39)	missense	probably damaging	0.99
R8151:Il18rap	UTSW	1	40,564,428 (GRCm39)	missense	probably benign	0.00
R8201:Il18rap	UTSW	1	40,578,429 (GRCm39)	missense	possibly damaging	0.75
R8356:Il18rap	UTSW	1	40,564,084 (GRCm39)	missense	probably benign	0.28
R8701:Il18rap	UTSW	1	40,578,501 (GRCm39)	missense	probably benign	0.01
R8870:Il18rap	UTSW	1	40,564,280 (GRCm39)	splice site	probably benign
R8874:Il18rap	UTSW	1	40,564,506 (GRCm39)	missense	probably damaging	1.00
R8911:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R8912:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R8913:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R8914:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R8958:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R8959:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9024:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9135:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9136:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9137:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9138:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9194:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9197:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9198:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9200:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9201:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9218:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9353:Il18rap	UTSW	1	40,587,088 (GRCm39)	missense	probably benign	0.02
R9465:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9466:Il18rap	UTSW	1	40,582,177 (GRCm39)	missense	probably benign	0.43
R9535:Il18rap	UTSW	1	40,586,990 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02