Incidental Mutation 'IGL01637:Gbp2b'
| ID |
93058 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp2b
|
| Ensembl Gene |
ENSMUSG00000040264 |
| Gene Name |
guanylate binding protein 2b |
| Synonyms |
Gbp1, Mpa1, Mag-1, Gbp-1, Mpa-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
142594847-142619179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142598312 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 56
(N56S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029936
AA Change: N56S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: N56S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
280 |
4.1e-122 |
PFAM |
|
Pfam:GBP_C
|
282 |
578 |
5.5e-125 |
PFAM |
|
| 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 encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,904,684 (GRCm38) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,948,700 (GRCm38) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 62,937,286 (GRCm38) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,744,832 (GRCm38) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,756,455 (GRCm38) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,492,461 (GRCm38) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,759,917 (GRCm38) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,846,710 (GRCm38) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 16,205,473 (GRCm38) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 135,137,813 (GRCm38) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,354,613 (GRCm38) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,860,507 (GRCm38) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,650,525 (GRCm38) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm38) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,281,667 (GRCm38) |
M127L |
possibly damaging |
Het |
| Fam19a3 |
C |
T |
3: 104,773,079 (GRCm38) |
V75M |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,777,205 (GRCm38) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,189,825 (GRCm38) |
|
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,150,409 (GRCm38) |
V172E |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,372,358 (GRCm38) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,623,606 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,967,633 (GRCm38) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,686,545 (GRCm38) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,267,733 (GRCm38) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,896,503 (GRCm38) |
I90F |
possibly damaging |
Het |
| Itga2b |
A |
G |
11: 102,455,583 (GRCm38) |
L1009P |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 93,039,853 (GRCm38) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,245,368 (GRCm38) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,375,679 (GRCm38) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,215,628 (GRCm38) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 29,839,871 (GRCm38) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,550,532 (GRCm38) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,840,629 (GRCm38) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,547,120 (GRCm38) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,549,378 (GRCm38) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,146,060 (GRCm38) |
T2013I |
probably damaging |
Het |
| Olfr1018 |
A |
T |
2: 85,822,988 (GRCm38) |
T6S |
probably benign |
Het |
| Olfr131 |
G |
A |
17: 38,082,103 (GRCm38) |
L292F |
possibly damaging |
Het |
| Olfr593 |
C |
A |
7: 103,212,177 (GRCm38) |
R95S |
probably benign |
Het |
| Olfr812 |
A |
G |
10: 129,842,610 (GRCm38) |
L144P |
probably benign |
Het |
| Olfr845 |
T |
C |
9: 19,338,964 (GRCm38) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,664,056 (GRCm38) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,540,034 (GRCm38) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,526,901 (GRCm38) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 70,772,348 (GRCm38) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,641,690 (GRCm38) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,106,438 (GRCm38) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 108,058,238 (GRCm38) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,965,171 (GRCm38) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,132,957 (GRCm38) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,148,513 (GRCm38) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 105,960,707 (GRCm38) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 98,041,354 (GRCm38) |
E241G |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,737,629 (GRCm38) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,370,085 (GRCm38) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,674,191 (GRCm38) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 46,956,654 (GRCm38) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,139,900 (GRCm38) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm38) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,919,064 (GRCm38) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,702,948 (GRCm38) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,645,736 (GRCm38) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,646 (GRCm38) |
H676R |
probably benign |
Het |
|
| Other mutations in Gbp2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Gbp2b
|
APN |
3 |
142,603,620 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01989:Gbp2b
|
APN |
3 |
142,611,440 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02019:Gbp2b
|
APN |
3 |
142,606,990 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02338:Gbp2b
|
APN |
3 |
142,604,226 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02657:Gbp2b
|
APN |
3 |
142,604,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03148:Gbp2b
|
APN |
3 |
142,606,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4304:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4340:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4342:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4589:Gbp2b
|
UTSW |
3 |
142,603,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0329:Gbp2b
|
UTSW |
3 |
142,608,176 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0345:Gbp2b
|
UTSW |
3 |
142,608,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0358:Gbp2b
|
UTSW |
3 |
142,606,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0732:Gbp2b
|
UTSW |
3 |
142,606,978 (GRCm38) |
missense |
probably benign |
|
|
R1163:Gbp2b
|
UTSW |
3 |
142,599,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1550:Gbp2b
|
UTSW |
3 |
142,606,830 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1629:Gbp2b
|
UTSW |
3 |
142,610,974 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1886:Gbp2b
|
UTSW |
3 |
142,608,302 (GRCm38) |
missense |
probably benign |
|
|
R1887:Gbp2b
|
UTSW |
3 |
142,608,302 (GRCm38) |
missense |
probably benign |
|
|
R2188:Gbp2b
|
UTSW |
3 |
142,608,279 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2261:Gbp2b
|
UTSW |
3 |
142,606,735 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3977:Gbp2b
|
UTSW |
3 |
142,603,709 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4718:Gbp2b
|
UTSW |
3 |
142,598,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4788:Gbp2b
|
UTSW |
3 |
142,611,410 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4807:Gbp2b
|
UTSW |
3 |
142,598,245 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5042:Gbp2b
|
UTSW |
3 |
142,611,463 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5087:Gbp2b
|
UTSW |
3 |
142,598,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5114:Gbp2b
|
UTSW |
3 |
142,598,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5414:Gbp2b
|
UTSW |
3 |
142,599,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Gbp2b
|
UTSW |
3 |
142,611,365 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5625:Gbp2b
|
UTSW |
3 |
142,599,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5685:Gbp2b
|
UTSW |
3 |
142,608,158 (GRCm38) |
missense |
probably benign |
|
|
R6030:Gbp2b
|
UTSW |
3 |
142,603,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6030:Gbp2b
|
UTSW |
3 |
142,603,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6408:Gbp2b
|
UTSW |
3 |
142,618,138 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6500:Gbp2b
|
UTSW |
3 |
142,611,491 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6581:Gbp2b
|
UTSW |
3 |
142,608,238 (GRCm38) |
nonsense |
probably null |
|
|
R6582:Gbp2b
|
UTSW |
3 |
142,611,040 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6847:Gbp2b
|
UTSW |
3 |
142,598,179 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6923:Gbp2b
|
UTSW |
3 |
142,600,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7120:Gbp2b
|
UTSW |
3 |
142,606,746 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7255:Gbp2b
|
UTSW |
3 |
142,608,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7454:Gbp2b
|
UTSW |
3 |
142,598,159 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7643:Gbp2b
|
UTSW |
3 |
142,603,609 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8039:Gbp2b
|
UTSW |
3 |
142,618,164 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,599,054 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,599,051 (GRCm38) |
missense |
probably benign |
|
|
R8391:Gbp2b
|
UTSW |
3 |
142,604,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8418:Gbp2b
|
UTSW |
3 |
142,603,705 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8721:Gbp2b
|
UTSW |
3 |
142,606,944 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8842:Gbp2b
|
UTSW |
3 |
142,606,815 (GRCm38) |
missense |
probably benign |
|
|
R8849:Gbp2b
|
UTSW |
3 |
142,608,152 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8874:Gbp2b
|
UTSW |
3 |
142,608,279 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8896:Gbp2b
|
UTSW |
3 |
142,603,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8992:Gbp2b
|
UTSW |
3 |
142,610,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9339:Gbp2b
|
UTSW |
3 |
142,611,417 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9752:Gbp2b
|
UTSW |
3 |
142,608,156 (GRCm38) |
missense |
probably benign |
0.16 |
|
Z1177:Gbp2b
|
UTSW |
3 |
142,604,316 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-12-09 |
Incidental Mutation