Incidental Mutation 'R3155:Gbp5'
| ID |
263452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp5
|
| Ensembl Gene |
ENSMUSG00000105504 |
| Gene Name |
guanylate binding protein 5 |
| Synonyms |
5330409J06Rik, Gbp5a |
| MMRRC Submission |
040606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3155 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142202695-142228105 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 142208888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090127]
[ENSMUST00000090127]
[ENSMUST00000196255]
[ENSMUST00000197459]
|
| AlphaFold |
Q8CFB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090127
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
| 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 null
Transcript: ENSMUST00000090127
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
| 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 benign
Transcript: ENSMUST00000196255
|
| SMART Domains |
Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
| 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 benign
Transcript: ENSMUST00000197459
|
| SMART Domains |
Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
| 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 |
0.9487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
| Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
| Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
| Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
| Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
| Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
| Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
probably 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 |
|
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 |
|
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'- GTGGTACTCCCTCGAGAATG -3'
(R):5'- CACAAGAGTTTGCCTTTGTGTG -3'
Sequencing Primer
(F):5'- TCGAGAATGACCTGAGACATGCTTC -3'
(R):5'- GGTTATAGGTACACACTGCCATGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation