Incidental Mutation 'IGL01151:Gbp5'
| ID |
50809 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp5
|
| Ensembl Gene |
ENSMUSG00000105504 |
| Gene Name |
guanylate binding protein 5 |
| Synonyms |
5330409J06Rik, Gbp5a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
142202695-142228105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142206355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 13
(L13P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090127]
[ENSMUST00000196255]
[ENSMUST00000197459]
|
| AlphaFold |
Q8CFB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090127
AA Change: L13P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: L13P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
281 |
4e-113 |
PFAM |
|
Pfam:GBP_C
|
283 |
575 |
6e-109 |
PFAM |
|
low complexity region
|
579 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196255
AA Change: L13P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: L13P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
281 |
2.8e-113 |
PFAM |
|
Pfam:GBP_C
|
283 |
556 |
5.5e-106 |
PFAM |
|
internal_repeat_1
|
579 |
640 |
3.01e-21 |
PROSPERO |
|
internal_repeat_1
|
647 |
708 |
3.01e-21 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197459
AA Change: L13P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: L13P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
65 |
4.7e-16 |
PFAM |
|
Pfam:GBP
|
63 |
169 |
4.8e-33 |
PFAM |
|
Pfam:GBP_C
|
171 |
444 |
9.3e-104 |
PFAM |
|
internal_repeat_1
|
467 |
528 |
5.89e-22 |
PROSPERO |
|
internal_repeat_1
|
535 |
596 |
5.89e-22 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199578
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Listeria infection and NLRP3 inflammation. [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 |
|---|
| Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
| Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
| Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
| Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
Het |
|
| Other mutations in Gbp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Gbp5
|
APN |
3 |
142,208,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02294:Gbp5
|
APN |
3 |
142,209,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Gbp5
|
UTSW |
3 |
142,206,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Gbp5
|
UTSW |
3 |
142,212,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0014:Gbp5
|
UTSW |
3 |
142,212,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0166:Gbp5
|
UTSW |
3 |
142,212,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0357:Gbp5
|
UTSW |
3 |
142,211,172 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0414:Gbp5
|
UTSW |
3 |
142,213,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0457:Gbp5
|
UTSW |
3 |
142,213,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Gbp5
|
UTSW |
3 |
142,208,885 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1520:Gbp5
|
UTSW |
3 |
142,213,775 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2143:Gbp5
|
UTSW |
3 |
142,209,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Gbp5
|
UTSW |
3 |
142,206,480 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3155:Gbp5
|
UTSW |
3 |
142,208,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Gbp5
|
UTSW |
3 |
142,209,546 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4770:Gbp5
|
UTSW |
3 |
142,213,837 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5096:Gbp5
|
UTSW |
3 |
142,207,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Gbp5
|
UTSW |
3 |
142,207,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Gbp5
|
UTSW |
3 |
142,213,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7234:Gbp5
|
UTSW |
3 |
142,226,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Gbp5
|
UTSW |
3 |
142,213,461 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7258:Gbp5
|
UTSW |
3 |
142,212,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Gbp5
|
UTSW |
3 |
142,207,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Gbp5
|
UTSW |
3 |
142,206,382 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7627:Gbp5
|
UTSW |
3 |
142,206,319 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7788:Gbp5
|
UTSW |
3 |
142,208,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Gbp5
|
UTSW |
3 |
142,213,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8896:Gbp5
|
UTSW |
3 |
142,211,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8951:Gbp5
|
UTSW |
3 |
142,206,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Gbp5
|
UTSW |
3 |
142,208,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Gbp5
|
UTSW |
3 |
142,206,366 (GRCm39) |
missense |
probably benign |
|
|
R9761:Gbp5
|
UTSW |
3 |
142,213,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation