Incidental Mutation 'R0014:Gbp5'
| ID |
201321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp5
|
| Ensembl Gene |
ENSMUSG00000105504 |
| Gene Name |
guanylate binding protein 5 |
| Synonyms |
5330409J06Rik, Gbp5a |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142202695-142228105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142212496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 395
(C395S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090127]
[ENSMUST00000196255]
[ENSMUST00000197459]
|
| AlphaFold |
Q8CFB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090127
AA Change: C395S
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: C395S
| 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: C395S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: C395S
| 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 |
unknown
Transcript: ENSMUST00000197459
AA Change: C283S
|
| SMART Domains |
Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: C283S
| 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
|
| Meta Mutation Damage Score |
0.5050 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (68/68) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,538,026 (GRCm39) |
E304G |
possibly damaging |
Het |
| Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
| Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
| Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Ptpdc1 |
G |
T |
13: 48,740,395 (GRCm39) |
Y345* |
probably null |
Het |
| Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
| Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
| Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,701 (GRCm39) |
Q342L |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
| Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,503,344 (GRCm39) |
F738L |
possibly damaging |
Het |
|
| Other mutations in Gbp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Gbp5
|
APN |
3 |
142,206,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACACGGAGAGTGACTTCTTGG -3'
(R):5'- TCCCTGGCTGCTGACGGTAATTTG -3'
Sequencing Primer
(F):5'- AACTTTCCCAGCTTCGATAAGG -3'
(R):5'- GACGGTAATTTGCCTTCAGC -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation