Incidental Mutation 'IGL01067:Gbp3'
| ID |
50696 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp3
|
| Ensembl Gene |
ENSMUSG00000028268 |
| Gene Name |
guanylate binding protein 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01067
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
142265787-142278970 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 142272358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029935]
[ENSMUST00000106221]
[ENSMUST00000106222]
[ENSMUST00000128609]
[ENSMUST00000142060]
[ENSMUST00000199325]
|
| AlphaFold |
Q61107 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029935
|
| SMART Domains |
Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
275 |
7.2e-126 |
PFAM |
|
Pfam:GBP_C
|
277 |
573 |
2.6e-126 |
PFAM |
|
low complexity region
|
605 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106221
|
| SMART Domains |
Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
275 |
7.2e-126 |
PFAM |
|
Pfam:GBP_C
|
277 |
573 |
2.6e-126 |
PFAM |
|
low complexity region
|
605 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106222
|
| SMART Domains |
Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
275 |
9.6e-125 |
PFAM |
|
Pfam:GBP_C
|
277 |
573 |
2.6e-126 |
PFAM |
|
low complexity region
|
605 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128609
|
| SMART Domains |
Protein: ENSMUSP00000117991
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
83 |
1.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142060
|
| SMART Domains |
Protein: ENSMUSP00000120131
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
136 |
4.8e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142731
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199325
|
| SMART Domains |
Protein: ENSMUSP00000142411
Gene: ENSMUSG00000028268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
12 |
57 |
8.1e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
| Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
| Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
| Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
| Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
| Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
| Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
| Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
| Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
| Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,333 (GRCm39) |
T292A |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
| Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
| Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
| Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
| Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
| Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
| Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
| Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
| Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Gbp3
|
APN |
3 |
142,271,005 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02965:Gbp3
|
APN |
3 |
142,273,343 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0136:Gbp3
|
UTSW |
3 |
142,269,862 (GRCm39) |
splice site |
probably null |
|
|
R0609:Gbp3
|
UTSW |
3 |
142,273,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0671:Gbp3
|
UTSW |
3 |
142,271,151 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0673:Gbp3
|
UTSW |
3 |
142,271,015 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0786:Gbp3
|
UTSW |
3 |
142,276,732 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2511:Gbp3
|
UTSW |
3 |
142,276,343 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3909:Gbp3
|
UTSW |
3 |
142,272,099 (GRCm39) |
unclassified |
probably benign |
|
|
R3912:Gbp3
|
UTSW |
3 |
142,272,099 (GRCm39) |
unclassified |
probably benign |
|
|
R4816:Gbp3
|
UTSW |
3 |
142,273,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5822:Gbp3
|
UTSW |
3 |
142,272,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6046:Gbp3
|
UTSW |
3 |
142,273,560 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6328:Gbp3
|
UTSW |
3 |
142,274,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7186:Gbp3
|
UTSW |
3 |
142,269,923 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7536:Gbp3
|
UTSW |
3 |
142,272,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Gbp3
|
UTSW |
3 |
142,272,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7602:Gbp3
|
UTSW |
3 |
142,274,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7677:Gbp3
|
UTSW |
3 |
142,266,264 (GRCm39) |
start gained |
probably benign |
|
|
R7764:Gbp3
|
UTSW |
3 |
142,271,024 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7923:Gbp3
|
UTSW |
3 |
142,273,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Gbp3
|
UTSW |
3 |
142,271,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9102:Gbp3
|
UTSW |
3 |
142,273,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9440:Gbp3
|
UTSW |
3 |
142,272,335 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9459:Gbp3
|
UTSW |
3 |
142,270,707 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9760:Gbp3
|
UTSW |
3 |
142,276,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0025:Gbp3
|
UTSW |
3 |
142,272,193 (GRCm39) |
missense |
probably benign |
0.42 |
|
X0062:Gbp3
|
UTSW |
3 |
142,267,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gbp3
|
UTSW |
3 |
142,267,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation