Incidental Mutation 'R5096:Gbp5'
| ID |
388031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp5
|
| Ensembl Gene |
ENSMUSG00000105504 |
| Gene Name |
guanylate binding protein 5 |
| Synonyms |
5330409J06Rik, Gbp5a |
| MMRRC Submission |
042685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142202695-142228105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142207122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090127]
[ENSMUST00000196255]
[ENSMUST00000197459]
|
| AlphaFold |
Q8CFB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090127
AA Change: D97G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087587
Gene: ENSMUSG00000105504
AA Change: D97G
| 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: D97G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143336
Gene: ENSMUSG00000105504
AA Change: D97G
| 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 |
0.9057 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
95% (61/64) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
| Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
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 |
|
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'- GCCATGTGCACTGTCTTGT -3'
(R):5'- AGCTCTATTTAAAAGTGGGGAGAA -3'
Sequencing Primer
(F):5'- TCTCGCTTACATCTTAGCTTAAATTC -3'
(R):5'- ATACTATACATCGTGTGCCTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation