Incidental Mutation 'R0786:Gbp3'
ID |
76846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp3
|
Ensembl Gene |
ENSMUSG00000028268 |
Gene Name |
guanylate binding protein 3 |
Synonyms |
|
MMRRC Submission |
038966-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
142265787-142278970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142276732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 510
(M510K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029935]
[ENSMUST00000106221]
[ENSMUST00000106222]
|
AlphaFold |
Q61107 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029935
AA Change: M510K
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029935 Gene: ENSMUSG00000028268 AA Change: M510K
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 |
possibly damaging
Transcript: ENSMUST00000106221
AA Change: M510K
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101828 Gene: ENSMUSG00000028268 AA Change: M510K
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 |
possibly damaging
Transcript: ENSMUST00000106222
AA Change: M510K
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101829 Gene: ENSMUSG00000028268 AA Change: M510K
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb3 |
T |
C |
8: 27,716,880 (GRCm39) |
|
probably benign |
Het |
Atg2b |
T |
C |
12: 105,602,767 (GRCm39) |
H1592R |
probably benign |
Het |
Bpifb1 |
C |
T |
2: 154,044,581 (GRCm39) |
A16V |
probably benign |
Het |
Cep57 |
T |
A |
9: 13,721,166 (GRCm39) |
Y271F |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,803,397 (GRCm39) |
N1548K |
possibly damaging |
Het |
Chrna6 |
A |
T |
8: 27,898,408 (GRCm39) |
D103E |
probably benign |
Het |
Clec12b |
T |
C |
6: 129,357,651 (GRCm39) |
N69S |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,209,815 (GRCm39) |
|
probably null |
Het |
Cwh43 |
T |
A |
5: 73,565,526 (GRCm39) |
Y30* |
probably null |
Het |
Dnai7 |
A |
G |
6: 145,127,483 (GRCm39) |
|
probably null |
Het |
Dsg4 |
T |
C |
18: 20,582,429 (GRCm39) |
|
probably null |
Het |
Efna3 |
T |
C |
3: 89,223,880 (GRCm39) |
N103S |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,725,400 (GRCm39) |
D532G |
possibly damaging |
Het |
Fam227a |
A |
T |
15: 79,510,469 (GRCm39) |
V395D |
probably benign |
Het |
Fes |
T |
A |
7: 80,036,668 (GRCm39) |
D93V |
probably damaging |
Het |
Gpr12 |
A |
T |
5: 146,520,314 (GRCm39) |
S44T |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,234,100 (GRCm39) |
N583S |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,651,620 (GRCm39) |
T1093A |
probably benign |
Het |
Hspb1 |
T |
C |
5: 135,918,097 (GRCm39) |
L148P |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,946,161 (GRCm39) |
N640S |
probably damaging |
Het |
Mak |
G |
T |
13: 41,199,545 (GRCm39) |
Q365K |
probably benign |
Het |
Melk |
A |
G |
4: 44,303,649 (GRCm39) |
Y14C |
unknown |
Het |
Myh7 |
T |
C |
14: 55,230,330 (GRCm39) |
M1V |
probably null |
Het |
Nsmf |
A |
G |
2: 24,950,522 (GRCm39) |
Y330C |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,661,172 (GRCm39) |
F1592S |
possibly damaging |
Het |
Pnpla6 |
A |
T |
8: 3,573,317 (GRCm39) |
I394F |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,918 (GRCm39) |
R1126G |
probably damaging |
Het |
Prss8 |
C |
T |
7: 127,525,646 (GRCm39) |
R291Q |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rasgrp1 |
G |
T |
2: 117,130,980 (GRCm39) |
D155E |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
Rhbg |
C |
T |
3: 88,151,875 (GRCm39) |
M394I |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,120,289 (GRCm39) |
F421S |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,966,301 (GRCm39) |
E451G |
probably damaging |
Het |
Tle1 |
T |
A |
4: 72,117,598 (GRCm39) |
T21S |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,226,433 (GRCm39) |
I266T |
possibly damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,318 (GRCm39) |
C96S |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,181,077 (GRCm39) |
T361S |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,657,568 (GRCm39) |
Q261L |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,987 (GRCm39) |
I158K |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,731 (GRCm39) |
K444E |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGATGCTGGCCCGGCTAATG -3'
(R):5'- GGCTTCAGTAAGACCCAAGTGGAC -3'
Sequencing Primer
(F):5'- CTACAAGCCCTGGCTACATT -3'
(R):5'- TGCAAGTTGAAGTTACAGGCTC -3'
|
Posted On |
2013-10-16 |