Incidental Mutation 'IGL02002:Gbp7'
ID |
183105 |
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 # |
IGL02002
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 142244661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 203
(A203T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045097]
[ENSMUST00000171263]
|
AlphaFold |
Q91Z40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045097
AA Change: A203T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049104 Gene: ENSMUSG00000040253 AA Change: A203T
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 damaging
Transcript: ENSMUST00000171263
AA Change: A203T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132970 Gene: ENSMUSG00000040253 AA Change: A203T
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,639,391 (GRCm39) |
N148K |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,696 (GRCm39) |
R225G |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
Ppard |
T |
G |
17: 28,517,877 (GRCm39) |
F315C |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,298,381 (GRCm39) |
S585T |
probably damaging |
Het |
Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,803,550 (GRCm39) |
V256I |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
probably 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 |
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 |
|
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 |
2014-05-07 |