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 |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101664092-101667897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101666002 bp (GRCm39)
|
| 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
| 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: Y59H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091685
Gene: ENSMUSG00000070427
AA Change: Y59H
| 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 |
noncoding transcript
Transcript: ENSMUST00000149976
|
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
| Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
| Other mutations in Il18bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6602:Il18bp
|
UTSW |
7 |
101,665,237 (GRCm39) |
unclassified |
probably benign |
|
|
R6870:Il18bp
|
UTSW |
7 |
101,666,518 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation