Incidental Mutation 'R3819:Gbp7'
ID |
274807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp7
|
Ensembl Gene |
ENSMUSG00000040253 |
Gene Name |
guanylate binding protein 7 |
Synonyms |
9830147J24Rik |
MMRRC Submission |
040773-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R3819 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 142249826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 432
(H432Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045097]
[ENSMUST00000171263]
|
AlphaFold |
Q91Z40 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045097
AA Change: H432Q
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049104 Gene: ENSMUSG00000040253 AA Change: H432Q
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
281 |
6.6e-128 |
PFAM |
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171263
AA Change: H432Q
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132970 Gene: ENSMUSG00000040253 AA Change: H432Q
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
281 |
1e-126 |
PFAM |
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197826
|
Meta Mutation Damage Score |
0.7496 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Barx1 |
T |
C |
13: 48,818,960 (GRCm39) |
I200T |
possibly damaging |
Het |
Coil |
T |
C |
11: 88,872,619 (GRCm39) |
F380L |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,603,222 (GRCm39) |
C417R |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,930,844 (GRCm39) |
E186G |
probably damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,237 (GRCm39) |
K321E |
probably damaging |
Het |
Or5ac22 |
A |
G |
16: 59,135,434 (GRCm39) |
F112S |
probably damaging |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Paxbp1 |
A |
C |
16: 90,819,640 (GRCm39) |
|
probably benign |
Het |
Plcl1 |
T |
A |
1: 55,735,758 (GRCm39) |
D366E |
probably benign |
Het |
Pramel22 |
T |
A |
4: 143,382,365 (GRCm39) |
E110D |
probably benign |
Het |
Prdm5 |
T |
C |
6: 65,913,041 (GRCm39) |
F391L |
possibly damaging |
Het |
Rasef |
C |
G |
4: 73,677,942 (GRCm39) |
D95H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint3 |
A |
T |
4: 112,113,085 (GRCm39) |
I232F |
possibly damaging |
Het |
Slc43a3 |
T |
C |
2: 84,774,896 (GRCm39) |
I158T |
probably damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Stat3 |
C |
T |
11: 100,789,459 (GRCm39) |
S377N |
probably damaging |
Het |
Tbpl2 |
A |
G |
2: 23,966,024 (GRCm39) |
V321A |
probably damaging |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,729,047 (GRCm39) |
|
probably benign |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
Xdh |
A |
T |
17: 74,213,720 (GRCm39) |
I811K |
probably benign |
Het |
|
Other mutations in Gbp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00731:Gbp7
|
APN |
3 |
142,252,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01020:Gbp7
|
APN |
3 |
142,248,618 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01959:Gbp7
|
APN |
3 |
142,247,108 (GRCm39) |
splice site |
probably benign |
|
IGL02002:Gbp7
|
APN |
3 |
142,244,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Gbp7
|
APN |
3 |
142,252,211 (GRCm39) |
missense |
probably benign |
0.11 |
PIT4366001:Gbp7
|
UTSW |
3 |
142,248,712 (GRCm39) |
missense |
probably benign |
|
R0103:Gbp7
|
UTSW |
3 |
142,252,299 (GRCm39) |
missense |
probably benign |
|
R0103:Gbp7
|
UTSW |
3 |
142,252,299 (GRCm39) |
missense |
probably benign |
|
R0398:Gbp7
|
UTSW |
3 |
142,251,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0486:Gbp7
|
UTSW |
3 |
142,252,078 (GRCm39) |
splice site |
probably benign |
|
R0645:Gbp7
|
UTSW |
3 |
142,243,926 (GRCm39) |
splice site |
probably null |
|
R0961:Gbp7
|
UTSW |
3 |
142,247,318 (GRCm39) |
nonsense |
probably null |
|
R1834:Gbp7
|
UTSW |
3 |
142,240,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R2089:Gbp7
|
UTSW |
3 |
142,251,316 (GRCm39) |
splice site |
probably benign |
|
R2089:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Gbp7
|
UTSW |
3 |
142,251,316 (GRCm39) |
splice site |
probably benign |
|
R2091:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2091:Gbp7
|
UTSW |
3 |
142,240,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R2181:Gbp7
|
UTSW |
3 |
142,249,791 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2921:Gbp7
|
UTSW |
3 |
142,240,333 (GRCm39) |
missense |
probably benign |
0.00 |
R2922:Gbp7
|
UTSW |
3 |
142,240,333 (GRCm39) |
missense |
probably benign |
0.00 |
R4747:Gbp7
|
UTSW |
3 |
142,248,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Gbp7
|
UTSW |
3 |
142,243,848 (GRCm39) |
missense |
probably benign |
0.00 |
R5899:Gbp7
|
UTSW |
3 |
142,252,303 (GRCm39) |
missense |
probably benign |
|
R6082:Gbp7
|
UTSW |
3 |
142,251,697 (GRCm39) |
missense |
probably benign |
0.01 |
R6211:Gbp7
|
UTSW |
3 |
142,251,754 (GRCm39) |
missense |
probably benign |
0.12 |
R6330:Gbp7
|
UTSW |
3 |
142,252,259 (GRCm39) |
missense |
probably benign |
|
R6419:Gbp7
|
UTSW |
3 |
142,252,214 (GRCm39) |
missense |
probably benign |
0.00 |
R7120:Gbp7
|
UTSW |
3 |
142,249,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R7338:Gbp7
|
UTSW |
3 |
142,243,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R7844:Gbp7
|
UTSW |
3 |
142,242,147 (GRCm39) |
missense |
probably benign |
0.10 |
R7910:Gbp7
|
UTSW |
3 |
142,240,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8357:Gbp7
|
UTSW |
3 |
142,252,133 (GRCm39) |
missense |
probably benign |
0.06 |
R8457:Gbp7
|
UTSW |
3 |
142,252,133 (GRCm39) |
missense |
probably benign |
0.06 |
R9016:Gbp7
|
UTSW |
3 |
142,249,870 (GRCm39) |
missense |
probably benign |
0.35 |
R9030:Gbp7
|
UTSW |
3 |
142,243,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9070:Gbp7
|
UTSW |
3 |
142,249,762 (GRCm39) |
missense |
probably benign |
0.10 |
R9357:Gbp7
|
UTSW |
3 |
142,248,889 (GRCm39) |
missense |
probably benign |
0.01 |
R9425:Gbp7
|
UTSW |
3 |
142,248,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Gbp7
|
UTSW |
3 |
142,242,115 (GRCm39) |
missense |
probably benign |
0.43 |
R9684:Gbp7
|
UTSW |
3 |
142,240,327 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTCAAGACCACAGTTG -3'
(R):5'- ATTCTGGATCTAGAGAAGCTGGAAG -3'
Sequencing Primer
(F):5'- ACAGCTTCCTTCTCTGATATCTCAAC -3'
(R):5'- TCTAGAGAAGCTGGAAGTGCATAG -3'
|
Posted On |
2015-04-02 |