Incidental Mutation 'IGL01762:Gbp11'
| ID |
153263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp11
|
| Ensembl Gene |
ENSMUSG00000092021 |
| Gene Name |
guanylate binding protein 11 |
| Synonyms |
Gm7141 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105470908-105494338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105475473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 292
(I292V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100960]
[ENSMUST00000171587]
|
| AlphaFold |
A9YVJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100960
AA Change: I292V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
1.5e-122 |
PFAM |
|
Pfam:GBP_C
|
281 |
574 |
3.4e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171587
AA Change: I292V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
4.9e-117 |
PFAM |
|
Pfam:GBP_C
|
281 |
442 |
2.7e-75 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,847 (GRCm39) |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,265,423 (GRCm39) |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,112,480 (GRCm39) |
V503L |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,119 (GRCm39) |
D770V |
possibly damaging |
Het |
| Camkk1 |
A |
G |
11: 72,921,627 (GRCm39) |
|
probably null |
Het |
| Cd34 |
T |
A |
1: 194,621,341 (GRCm39) |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,208 (GRCm39) |
I574T |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 115,900,834 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gprc5c |
A |
G |
11: 114,754,850 (GRCm39) |
I176V |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,199,538 (GRCm39) |
K258E |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,242 (GRCm39) |
V48A |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,084,850 (GRCm39) |
D243V |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,280,927 (GRCm39) |
K516Q |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,100,560 (GRCm39) |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,097,349 (GRCm39) |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,214,668 (GRCm39) |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,434,013 (GRCm39) |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,786 (GRCm39) |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 (GRCm38) |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,072,638 (GRCm39) |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,830,168 (GRCm39) |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,849 (GRCm39) |
L447P |
possibly damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,387,984 (GRCm39) |
F371I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,771,621 (GRCm39) |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,056 (GRCm39) |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,654 (GRCm39) |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,430 (GRCm39) |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,434 (GRCm39) |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,856 (GRCm39) |
D567G |
probably benign |
Het |
|
| Other mutations in Gbp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Gbp11
|
APN |
5 |
105,475,482 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01347:Gbp11
|
APN |
5 |
105,479,194 (GRCm39) |
splice site |
probably benign |
|
|
IGL02157:Gbp11
|
APN |
5 |
105,475,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Quilt
|
UTSW |
5 |
105,473,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tilted
|
UTSW |
5 |
105,478,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Gbp11
|
UTSW |
5 |
105,491,616 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0647:Gbp11
|
UTSW |
5 |
105,478,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1530:Gbp11
|
UTSW |
5 |
105,475,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1612:Gbp11
|
UTSW |
5 |
105,474,462 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1677:Gbp11
|
UTSW |
5 |
105,475,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Gbp11
|
UTSW |
5 |
105,474,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2063:Gbp11
|
UTSW |
5 |
105,476,450 (GRCm39) |
nonsense |
probably null |
|
|
R2869:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2869:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2873:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3915:Gbp11
|
UTSW |
5 |
105,478,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Gbp11
|
UTSW |
5 |
105,473,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Gbp11
|
UTSW |
5 |
105,478,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Gbp11
|
UTSW |
5 |
105,478,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Gbp11
|
UTSW |
5 |
105,479,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6336:Gbp11
|
UTSW |
5 |
105,473,355 (GRCm39) |
|
|
|
|
R6351:Gbp11
|
UTSW |
5 |
105,475,464 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6956:Gbp11
|
UTSW |
5 |
105,476,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7371:Gbp11
|
UTSW |
5 |
105,489,971 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7393:Gbp11
|
UTSW |
5 |
105,475,443 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7410:Gbp11
|
UTSW |
5 |
105,491,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Gbp11
|
UTSW |
5 |
105,478,816 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7898:Gbp11
|
UTSW |
5 |
105,472,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8465:Gbp11
|
UTSW |
5 |
105,472,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8467:Gbp11
|
UTSW |
5 |
105,475,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Gbp11
|
UTSW |
5 |
105,491,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Gbp11
|
UTSW |
5 |
105,473,392 (GRCm39) |
nonsense |
probably null |
|
|
R8960:Gbp11
|
UTSW |
5 |
105,479,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9097:Gbp11
|
UTSW |
5 |
105,474,347 (GRCm39) |
makesense |
probably null |
|
|
R9232:Gbp11
|
UTSW |
5 |
105,476,290 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9380:Gbp11
|
UTSW |
5 |
105,475,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Gbp11
|
UTSW |
5 |
105,478,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Gbp11
|
UTSW |
5 |
105,474,471 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation