Incidental Mutation 'IGL01779:Il18bp'
ID 153895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il18bp
Ensembl Gene ENSMUSG00000070427
Gene Name interleukin 18 binding protein
Synonyms Igifbp, MC54L, IL-18BP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01779
Quality Score
Status
Chromosome 7
Chromosomal Location 102014885-102018690 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102016795 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 59 (Y59H)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: Y59H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091685
Gene: ENSMUSG00000070427
AA Change: Y59H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000149976
Predicted Effect probably benign
Transcript: ENSMUST00000163183
SMART Domains Protein: ENSMUSP00000126180
Gene: ENSMUSG00000066306

DomainStartEndE-ValueType
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: Y59H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209844
AA Change: Y59H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211502
AA Change: Y59H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
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 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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Col8a1 A T 16: 57,628,363 H261Q unknown Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Il18bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6602:Il18bp UTSW 7 102016030 unclassified probably benign
R6870:Il18bp UTSW 7 102017311 missense possibly damaging 0.66
R7699:Il18bp UTSW 7 102016822 missense probably damaging 0.97
R7872:Il18bp UTSW 7 102016795 missense possibly damaging 0.92
R8964:Il18bp UTSW 7 102016384 missense possibly damaging 0.83
Posted On 2014-02-04