Incidental Mutation 'R3909:Gbp3'
ID |
359662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp3
|
Ensembl Gene |
ENSMUSG00000028268 |
Gene Name |
guanylate binding protein 3 |
Synonyms |
|
MMRRC Submission |
040814-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3909 (G1)
|
Quality Score |
24 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142265787-142278970 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 142272099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029935]
[ENSMUST00000106221]
[ENSMUST00000106222]
[ENSMUST00000128609]
[ENSMUST00000142060]
[ENSMUST00000199325]
|
AlphaFold |
Q61107 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (35/35) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,806,802 (GRCm39) |
P71S |
possibly damaging |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,705 (GRCm39) |
D237G |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
Prps1l1 |
A |
T |
12: 35,035,797 (GRCm39) |
H304L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
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 |
|
IGL01067:Gbp3
|
APN |
3 |
142,272,358 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGACTAAGCACTGAGGTCTC -3'
(R):5'- CTCAGAGTCTTGGTCTTGCC -3'
Sequencing Primer
(F):5'- TAAGCACTGAGGTCTCCCAATG -3'
(R):5'- TTTCTGATTCAACCTGGAAATTCCG -3'
|
Posted On |
2015-11-12 |