Incidental Mutation 'R2922:Gbp7'
| ID |
255564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp7
|
| Ensembl Gene |
ENSMUSG00000040253 |
| Gene Name |
guanylate binding protein 7 |
| Synonyms |
9830147J24Rik |
| MMRRC Submission |
040507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2922 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
142236103-142255910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142240333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 17
(E17V)
|
| 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: E17V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049104
Gene: ENSMUSG00000040253
AA Change: E17V
| 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: E17V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132970
Gene: ENSMUSG00000040253
AA Change: E17V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
18 |
281 |
1e-126 |
PFAM |
|
Pfam:GBP_C
|
283 |
579 |
2.8e-127 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Bsn |
C |
T |
9: 107,985,385 (GRCm39) |
V2890M |
unknown |
Het |
| Bsn |
T |
C |
9: 107,992,668 (GRCm39) |
E1028G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Cdk11b |
CAGAAGAAG |
CAGAAG |
4: 155,725,201 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,627,898 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
C |
7: 18,810,270 (GRCm39) |
F26L |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,057,100 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,609,742 (GRCm39) |
Y622H |
probably damaging |
Het |
| Ghrh |
T |
C |
2: 157,173,797 (GRCm39) |
|
probably null |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,675,912 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
T |
C |
3: 89,428,329 (GRCm39) |
V185A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,536 (GRCm39) |
T739A |
probably benign |
Het |
| Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
| Myh9 |
A |
G |
15: 77,697,384 (GRCm39) |
L10P |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nr3c1 |
C |
A |
18: 39,620,156 (GRCm39) |
A44S |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,060 (GRCm39) |
V66I |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,576,767 (GRCm39) |
L346Q |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,530,551 (GRCm39) |
|
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Tmem198b |
G |
A |
10: 128,638,062 (GRCm39) |
T167I |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,206,811 (GRCm39) |
N4886S |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,692,405 (GRCm39) |
S956G |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,724 (GRCm39) |
P2986S |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGAGAGGCTCCTGAAAG -3'
(R):5'- GCCAATGATTCCAAATGGACTC -3'
Sequencing Primer
(F):5'- GCTCCTGAAAGGCTGTCACAC -3'
(R):5'- TGATTCCAAATGGACTCGGTAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation