Incidental Mutation 'R7627:Gbp5'
| ID |
589486 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
142202695-142228105 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to G
at 142206319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090127]
[ENSMUST00000196255]
[ENSMUST00000197459]
|
| AlphaFold |
Q8CFB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090127
AA Change: M1R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: M1R
| 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: ENSMUST00000196255
AA Change: M1R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: M1R
| 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 null
Transcript: ENSMUST00000197459
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000142938
Gene: ENSMUSG00000105504
AA Change: M1R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
| Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
| Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
| Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
| Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
| Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
| Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
| Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
| H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
| Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
| Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
| Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
| Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
| Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
| Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
| Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
| Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
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 |
|
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 |
|
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'- GCCAAGGATATGGATTTCCTGTG -3'
(R):5'- CCAGCCAGCTTGTTCATCAG -3'
Sequencing Primer
(F):5'- ACTCACTCTGTAGACCAGGCTG -3'
(R):5'- AGCCAGCTTGTTCATCAGGTAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation