Incidental Mutation 'IGL01020:Gbp7'
ID |
53498 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gbp7
|
Ensembl Gene |
ENSMUSG00000040253 |
Gene Name |
guanylate binding protein 7 |
Synonyms |
9830147J24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL01020
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142248618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 294
(T294A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045097]
[ENSMUST00000171263]
|
AlphaFold |
Q91Z40 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045097
AA Change: T294A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000049104 Gene: ENSMUSG00000040253 AA Change: T294A
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 |
probably benign
Transcript: ENSMUST00000171263
AA Change: T294A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132970 Gene: ENSMUSG00000040253 AA Change: T294A
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
18 |
281 |
1e-126 |
PFAM |
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
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 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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
possibly damaging |
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 |
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 |
R3819:Gbp7
|
UTSW |
3 |
142,249,826 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
Posted On |
2013-06-28 |