Incidental Mutation 'R3912:Gbp3'
| ID |
359679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp3
|
| Ensembl Gene |
ENSMUSG00000028268 |
| Gene Name |
guanylate binding protein 3 |
| Synonyms |
|
| MMRRC Submission |
040910-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3912 (G1)
|
| Quality Score |
20 |
|
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: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,806 (GRCm39) |
S305G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,918,208 (GRCm39) |
D167G |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,425,630 (GRCm39) |
|
probably null |
Het |
| Adh7 |
T |
A |
3: 137,927,541 (GRCm39) |
V29E |
probably damaging |
Het |
| Aopep |
G |
T |
13: 63,304,520 (GRCm39) |
E402* |
probably null |
Het |
| Atp2c2 |
A |
G |
8: 120,448,015 (GRCm39) |
K103E |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,924,642 (GRCm39) |
D285G |
probably benign |
Het |
| Ccdc158 |
G |
C |
5: 92,796,794 (GRCm39) |
T514S |
possibly damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,853,770 (GRCm39) |
D210V |
probably damaging |
Het |
| Cndp1 |
C |
T |
18: 84,650,124 (GRCm39) |
D190N |
probably benign |
Het |
| Eepd1 |
C |
T |
9: 25,394,600 (GRCm39) |
T288M |
probably damaging |
Het |
| Erbin |
G |
T |
13: 103,998,795 (GRCm39) |
T197K |
probably benign |
Het |
| Erbin |
G |
A |
13: 104,022,846 (GRCm39) |
|
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm14326 |
T |
C |
2: 177,587,658 (GRCm39) |
K446R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,748,185 (GRCm39) |
Y518H |
probably damaging |
Het |
| Id2 |
T |
A |
12: 25,145,871 (GRCm39) |
K47* |
probably null |
Het |
| Ilf2 |
A |
G |
3: 90,394,367 (GRCm39) |
N295S |
probably benign |
Het |
| Ilf3 |
C |
T |
9: 21,309,422 (GRCm39) |
A526V |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc7 |
G |
A |
3: 157,997,589 (GRCm39) |
L158F |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,893,638 (GRCm39) |
C179Y |
probably damaging |
Het |
| Mrps18b |
C |
T |
17: 36,221,831 (GRCm39) |
V165I |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,261,682 (GRCm39) |
S432G |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,976 (GRCm39) |
A377V |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Pate4 |
C |
A |
9: 35,523,140 (GRCm39) |
M1I |
probably null |
Het |
| Pax7 |
C |
A |
4: 139,508,209 (GRCm39) |
W272L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,815,056 (GRCm39) |
E320K |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,619 (GRCm39) |
Y278C |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,217 (GRCm39) |
N339D |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,787,313 (GRCm39) |
I1020T |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,211,542 (GRCm39) |
I1492F |
probably damaging |
Het |
| Sec16a |
C |
T |
2: 26,304,399 (GRCm39) |
G2304D |
probably damaging |
Het |
| Shisa7 |
T |
A |
7: 4,833,239 (GRCm39) |
R341* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,424 (GRCm39) |
M198L |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,863,753 (GRCm39) |
N669Y |
possibly damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,362 (GRCm39) |
F392S |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,610 (GRCm39) |
T534A |
possibly damaging |
Het |
| Susd4 |
A |
T |
1: 182,715,031 (GRCm39) |
Y284F |
probably damaging |
Het |
| Tas1r1 |
A |
T |
4: 152,116,381 (GRCm39) |
Y418N |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,187,138 (GRCm39) |
I584T |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Vmn1r39 |
C |
T |
6: 66,782,125 (GRCm39) |
M27I |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,744 (GRCm39) |
T223A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,646,039 (GRCm39) |
I469T |
probably damaging |
Het |
| Wnt3a |
A |
C |
11: 59,140,828 (GRCm39) |
D229E |
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 |
|
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 |
|
|
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'- CTAAGCACTGAGGTCTCCCAATG -3'
(R):5'- TCAGAGTCTTGGTCTTGCCG -3'
Sequencing Primer
(F):5'- TGCCCCGGGTACTTTAAAAC -3'
(R):5'- TTTCTGATTCAACCTGGAAATTCCG -3'
|
| Posted On |
2015-11-17 |
Incidental Mutation