Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:Il18bp'

536138

Institutional Source

Beutler Lab

Gene Symbol

Il18bp

Ensembl Gene

ENSMUSG00000070427

Gene Name

interleukin 18 binding protein

Synonyms

Igifbp, MC54L, IL-18BP

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101664092-101667897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101666518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000147912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084852] [ENSMUST00000089052] [ENSMUST00000094134] [ENSMUST00000096639] [ENSMUST00000106953] [ENSMUST00000163183] [ENSMUST00000209368] [ENSMUST00000209844] [ENSMUST00000211502]

AlphaFold

Q9Z0M9

Predicted Effect

probably benign
Transcript: ENSMUST00000084852

SMART Domains

Protein: ENSMUSP00000081912
Gene: ENSMUSG00000066306

Domain	Start	End	E-Value	Type
low complexity region	187	201	N/A	INTRINSIC
coiled coil region	211	249	N/A	INTRINSIC
coiled coil region	274	818	N/A	INTRINSIC
low complexity region	856	869	N/A	INTRINSIC
internal_repeat_1	910	933	6.03e-6	PROSPERO
internal_repeat_2	911	951	2.35e-5	PROSPERO
low complexity region	979	992	N/A	INTRINSIC
low complexity region	1002	1018	N/A	INTRINSIC
low complexity region	1063	1081	N/A	INTRINSIC
internal_repeat_5	1094	1116	4.63e-5	PROSPERO
low complexity region	1130	1138	N/A	INTRINSIC
low complexity region	1220	1233	N/A	INTRINSIC
low complexity region	1271	1289	N/A	INTRINSIC
low complexity region	1364	1374	N/A	INTRINSIC
coiled coil region	1464	1681	N/A	INTRINSIC
low complexity region	1700	1711	N/A	INTRINSIC
internal_repeat_3	1718	1755	4.63e-5	PROSPERO
internal_repeat_4	1777	1819	4.63e-5	PROSPERO
internal_repeat_3	1800	1842	4.63e-5	PROSPERO
internal_repeat_4	1811	1854	4.63e-5	PROSPERO
low complexity region	1859	1875	N/A	INTRINSIC
PDB:3RO2\|B	1881	1908	3e-13	PDB
internal_repeat_2	1938	1977	2.35e-5	PROSPERO
internal_repeat_5	1973	1995	4.63e-5	PROSPERO
internal_repeat_1	2020	2043	6.03e-6	PROSPERO
low complexity region	2073	2085	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089052

SMART Domains

Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
transmembrane domain	56	73	N/A	INTRINSIC
transmembrane domain	78	97	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	152	169	N/A	INTRINSIC
RING	203	252	9.83e-4	SMART
transmembrane domain	279	301	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094134
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091685
Gene: ENSMUSG00000070427
AA Change: T2A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:IG	66	170	7e-54	BLAST
PDB:4EKX\|A	71	167	6e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000096639

SMART Domains

Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	79	96	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	175	192	N/A	INTRINSIC
RING	226	275	9.83e-4	SMART
transmembrane domain	302	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106953

SMART Domains

Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	79	N/A	INTRINSIC
transmembrane domain	84	103	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	158	175	N/A	INTRINSIC
RING	209	258	9.83e-4	SMART
transmembrane domain	285	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163183

SMART Domains

Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306

Domain	Start	End	E-Value	Type
coiled coil region	7	73	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
SCOP:d1fxkc_	164	290	7e-3	SMART
low complexity region	347	358	N/A	INTRINSIC
low complexity region	506	522	N/A	INTRINSIC
PDB:3RO2\|B	528	555	2e-10	PDB
low complexity region	720	732	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209368
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209844
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211502
AA Change: T2A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous knockout affects NK cell differentiation and function, with an increase in immature cells and a decrease in mature cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
A1bg	T	C	15: 60,791,564 (GRCm39)	T291A	probably damaging	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cemip2	T	C	19: 21,809,487 (GRCm39)	S956P	possibly damaging	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Elf2	A	T	3: 51,201,586 (GRCm39)	*88R	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Lrrfip2	A	T	9: 111,045,187 (GRCm39)		probably benign	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Septin1	C	T	7: 126,816,876 (GRCm39)	V46M	probably benign	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	probably damaging	Het

Other mutations in Il18bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Il18bp	APN	7	101,666,002 (GRCm39)	missense	possibly damaging	0.92
R6602:Il18bp	UTSW	7	101,665,237 (GRCm39)	unclassified	probably benign
R7699:Il18bp	UTSW	7	101,666,029 (GRCm39)	missense	probably damaging	0.97
R7872:Il18bp	UTSW	7	101,666,002 (GRCm39)	missense	possibly damaging	0.92
R8964:Il18bp	UTSW	7	101,665,591 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TCTCACCAGGAACCTGAGTG -3'
(R):5'- TGCCTTAAGTGTGGATAGCCC -3'

Sequencing Primer
(F):5'- CTCTGCTGAATGTAGTGCAAAG -3'
(R):5'- TGGATAGCCCAGCTGGTG -3'

Posted On

2018-10-18