Incidental Mutation 'IGL02338:Gbp2b'
| ID |
288950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp2b
|
| Ensembl Gene |
ENSMUSG00000040264 |
| Gene Name |
guanylate binding protein 2b |
| Synonyms |
Mag-1, Mpa-1, Mpa1, Gbp-1, Gbp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
142300608-142324940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142309987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 259
(E259G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029936]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029936
AA Change: E259G
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029936
Gene: ENSMUSG00000040264
AA Change: E259G
| 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 |
|---|
| Ahdc1 |
G |
A |
4: 132,789,860 (GRCm39) |
C367Y |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,975,728 (GRCm39) |
I279L |
probably benign |
Het |
| Ambp |
A |
T |
4: 63,061,934 (GRCm39) |
C332S |
probably damaging |
Het |
| App |
T |
C |
16: 84,970,407 (GRCm39) |
T14A |
probably benign |
Het |
| Asap1 |
A |
T |
15: 63,995,519 (GRCm39) |
|
probably null |
Het |
| Aurka |
T |
C |
2: 172,201,778 (GRCm39) |
R242G |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,093,217 (GRCm39) |
P747L |
probably damaging |
Het |
| Bcl6b |
T |
C |
11: 70,119,918 (GRCm39) |
D23G |
probably damaging |
Het |
| Cabp2 |
A |
C |
19: 4,134,154 (GRCm39) |
E42A |
possibly damaging |
Het |
| Ccdc14 |
G |
A |
16: 34,542,173 (GRCm39) |
S557N |
probably benign |
Het |
| Ccdc146 |
G |
T |
5: 21,524,604 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,412,615 (GRCm39) |
Q216L |
probably damaging |
Het |
| Ces1b |
G |
A |
8: 93,783,675 (GRCm39) |
P515L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,755,829 (GRCm39) |
N2198K |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,288,859 (GRCm39) |
S1133G |
possibly damaging |
Het |
| Cspg5 |
G |
A |
9: 110,085,335 (GRCm39) |
R502H |
probably benign |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,229 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,146,229 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,202,783 (GRCm39) |
D715G |
probably damaging |
Het |
| Dock1 |
G |
T |
7: 134,734,804 (GRCm39) |
L1317F |
possibly damaging |
Het |
| Fanci |
T |
A |
7: 79,083,279 (GRCm39) |
Y727* |
probably null |
Het |
| Fbxw20 |
T |
A |
9: 109,055,046 (GRCm39) |
T168S |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,385,723 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,573,557 (GRCm39) |
S379C |
probably damaging |
Het |
| Gm8325 |
T |
C |
3: 60,784,805 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr75 |
A |
T |
11: 30,841,730 (GRCm39) |
T212S |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,898,795 (GRCm39) |
T1711A |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,184,796 (GRCm39) |
S453G |
probably benign |
Het |
| Maneal |
A |
G |
4: 124,754,276 (GRCm39) |
|
probably benign |
Het |
| Marco |
A |
T |
1: 120,422,508 (GRCm39) |
I58N |
possibly damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,965 (GRCm39) |
I647T |
probably damaging |
Het |
| Mtfr1l |
A |
T |
4: 134,258,054 (GRCm39) |
V56D |
probably damaging |
Het |
| Npy1r |
G |
A |
8: 67,156,954 (GRCm39) |
V125I |
probably damaging |
Het |
| Or1j19 |
C |
T |
2: 36,676,557 (GRCm39) |
Q7* |
probably null |
Het |
| Or52n20 |
T |
C |
7: 104,320,888 (GRCm39) |
|
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,960 (GRCm39) |
L245P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,867,210 (GRCm39) |
L362* |
probably null |
Het |
| Pdlim2 |
T |
C |
14: 70,411,906 (GRCm39) |
D42G |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,842,100 (GRCm39) |
I89N |
possibly damaging |
Het |
| Prrc2b |
T |
A |
2: 32,104,047 (GRCm39) |
M1175K |
probably benign |
Het |
| Pzp |
T |
A |
6: 128,463,133 (GRCm39) |
N1423I |
probably benign |
Het |
| Retnla |
G |
A |
16: 48,664,561 (GRCm39) |
C105Y |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,544 (GRCm39) |
S167T |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,210 (GRCm39) |
M171T |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,939,941 (GRCm39) |
V658A |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,455 (GRCm39) |
R7G |
possibly damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,338 (GRCm39) |
T500A |
probably damaging |
Het |
| Slc44a4 |
G |
T |
17: 35,142,786 (GRCm39) |
G396V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,446,199 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,798,156 (GRCm39) |
R34W |
probably damaging |
Het |
| Stk-ps2 |
T |
A |
1: 46,069,337 (GRCm39) |
|
noncoding transcript |
Het |
| Stn1 |
T |
C |
19: 47,502,329 (GRCm39) |
Y235C |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,259,800 (GRCm39) |
Y557C |
probably damaging |
Het |
| Tgfbr1 |
G |
A |
4: 47,393,490 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
T |
1: 129,523,508 (GRCm39) |
V181L |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Trpm4 |
T |
G |
7: 44,976,422 (GRCm39) |
R51S |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,671 (GRCm39) |
T197S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,160 (GRCm39) |
I739T |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,859,880 (GRCm39) |
D424G |
probably benign |
Het |
| Yap1 |
A |
G |
9: 7,962,282 (GRCm39) |
|
probably null |
Het |
| Zer1 |
T |
C |
2: 30,003,405 (GRCm39) |
D4G |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,010,292 (GRCm39) |
I753F |
possibly damaging |
Het |
|
| Other mutations in Gbp2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Gbp2b
|
APN |
3 |
142,304,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01892:Gbp2b
|
APN |
3 |
142,309,381 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01989:Gbp2b
|
APN |
3 |
142,317,201 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02019:Gbp2b
|
APN |
3 |
142,312,751 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02657:Gbp2b
|
APN |
3 |
142,309,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03148:Gbp2b
|
APN |
3 |
142,312,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4340:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4342:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4589:Gbp2b
|
UTSW |
3 |
142,309,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Gbp2b
|
UTSW |
3 |
142,313,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0345:Gbp2b
|
UTSW |
3 |
142,313,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Gbp2b
|
UTSW |
3 |
142,312,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Gbp2b
|
UTSW |
3 |
142,312,739 (GRCm39) |
missense |
probably benign |
|
|
R1163:Gbp2b
|
UTSW |
3 |
142,304,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Gbp2b
|
UTSW |
3 |
142,312,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1629:Gbp2b
|
UTSW |
3 |
142,316,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1886:Gbp2b
|
UTSW |
3 |
142,314,063 (GRCm39) |
missense |
probably benign |
|
|
R1887:Gbp2b
|
UTSW |
3 |
142,314,063 (GRCm39) |
missense |
probably benign |
|
|
R2188:Gbp2b
|
UTSW |
3 |
142,314,040 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2261:Gbp2b
|
UTSW |
3 |
142,312,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3977:Gbp2b
|
UTSW |
3 |
142,309,470 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4718:Gbp2b
|
UTSW |
3 |
142,304,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Gbp2b
|
UTSW |
3 |
142,317,171 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4807:Gbp2b
|
UTSW |
3 |
142,304,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5042:Gbp2b
|
UTSW |
3 |
142,317,224 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5087:Gbp2b
|
UTSW |
3 |
142,304,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Gbp2b
|
UTSW |
3 |
142,303,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Gbp2b
|
UTSW |
3 |
142,304,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Gbp2b
|
UTSW |
3 |
142,317,126 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5625:Gbp2b
|
UTSW |
3 |
142,304,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Gbp2b
|
UTSW |
3 |
142,313,919 (GRCm39) |
missense |
probably benign |
|
|
R6030:Gbp2b
|
UTSW |
3 |
142,309,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6030:Gbp2b
|
UTSW |
3 |
142,309,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6408:Gbp2b
|
UTSW |
3 |
142,323,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6500:Gbp2b
|
UTSW |
3 |
142,317,252 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6581:Gbp2b
|
UTSW |
3 |
142,313,999 (GRCm39) |
nonsense |
probably null |
|
|
R6582:Gbp2b
|
UTSW |
3 |
142,316,801 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6847:Gbp2b
|
UTSW |
3 |
142,303,940 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6923:Gbp2b
|
UTSW |
3 |
142,306,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7120:Gbp2b
|
UTSW |
3 |
142,312,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7255:Gbp2b
|
UTSW |
3 |
142,313,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Gbp2b
|
UTSW |
3 |
142,303,920 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7643:Gbp2b
|
UTSW |
3 |
142,309,370 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8039:Gbp2b
|
UTSW |
3 |
142,323,925 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,304,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Gbp2b
|
UTSW |
3 |
142,304,812 (GRCm39) |
missense |
probably benign |
|
|
R8391:Gbp2b
|
UTSW |
3 |
142,309,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Gbp2b
|
UTSW |
3 |
142,309,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8721:Gbp2b
|
UTSW |
3 |
142,312,705 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8842:Gbp2b
|
UTSW |
3 |
142,312,576 (GRCm39) |
missense |
probably benign |
|
|
R8849:Gbp2b
|
UTSW |
3 |
142,313,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8874:Gbp2b
|
UTSW |
3 |
142,314,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8896:Gbp2b
|
UTSW |
3 |
142,309,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Gbp2b
|
UTSW |
3 |
142,316,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9339:Gbp2b
|
UTSW |
3 |
142,317,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9752:Gbp2b
|
UTSW |
3 |
142,313,917 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1177:Gbp2b
|
UTSW |
3 |
142,310,077 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2015-04-16 |
Incidental Mutation