Incidental Mutation 'IGL01107:Ilrun'
| ID |
53069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ilrun
|
| Ensembl Gene |
ENSMUSG00000056692 |
| Gene Name |
inflammation and lipid regulator with UBA-like and NBR1-like domains |
| Synonyms |
D17Wsu92e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
27970206-28039516 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 28005043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075076]
[ENSMUST00000114859]
[ENSMUST00000114863]
|
| AlphaFold |
Q3TT38 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075076
|
| SMART Domains |
Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
68 |
1.6e-13 |
PFAM |
|
Pfam:N_BRCA1_IG
|
80 |
179 |
1.6e-37 |
PFAM |
|
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114859
|
| SMART Domains |
Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
69 |
5.1e-15 |
PFAM |
|
PDB:4OLE|D
|
74 |
180 |
2e-9 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114863
|
| SMART Domains |
Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
25 |
69 |
2.2e-14 |
PFAM |
|
PDB:4OLE|D
|
74 |
180 |
8e-9 |
PDB |
|
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121414
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Ilrun |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Ilrun
|
APN |
17 |
27,986,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01805:Ilrun
|
APN |
17 |
27,986,880 (GRCm39) |
splice site |
probably benign |
|
|
detroit
|
UTSW |
17 |
28,013,044 (GRCm39) |
splice site |
probably null |
|
|
michigander
|
UTSW |
17 |
27,986,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0423:Ilrun
|
UTSW |
17 |
28,005,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Ilrun
|
UTSW |
17 |
28,005,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Ilrun
|
UTSW |
17 |
28,005,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Ilrun
|
UTSW |
17 |
27,986,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Ilrun
|
UTSW |
17 |
28,005,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1646:Ilrun
|
UTSW |
17 |
28,012,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Ilrun
|
UTSW |
17 |
28,005,236 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4604:Ilrun
|
UTSW |
17 |
28,039,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Ilrun
|
UTSW |
17 |
28,013,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Ilrun
|
UTSW |
17 |
27,986,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7201:Ilrun
|
UTSW |
17 |
28,013,044 (GRCm39) |
splice site |
probably null |
|
|
R7994:Ilrun
|
UTSW |
17 |
27,986,917 (GRCm39) |
missense |
probably benign |
|
|
R8057:Ilrun
|
UTSW |
17 |
27,986,863 (GRCm39) |
missense |
unknown |
|
|
R8767:Ilrun
|
UTSW |
17 |
27,987,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9269:Ilrun
|
UTSW |
17 |
28,005,049 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Ilrun
|
UTSW |
17 |
28,012,913 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation