Incidental Mutation 'IGL01289:Gbp8'
| ID |
72838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp8
|
| Ensembl Gene |
ENSMUSG00000034438 |
| Gene Name |
guanylate-binding protein 8 |
| Synonyms |
5830443L24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105160379-105201475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105165735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 306
(A306V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000112718]
|
| AlphaFold |
Q2V6D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031235
AA Change: A306V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
AA Change: A306V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
213 |
5.4e-91 |
PFAM |
|
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112718
AA Change: A306V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
AA Change: A306V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
214 |
5e-95 |
PFAM |
|
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199483
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Gbp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Gbp8
|
APN |
5 |
105,165,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL00775:Gbp8
|
APN |
5 |
105,165,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00788:Gbp8
|
APN |
5 |
105,198,863 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01634:Gbp8
|
APN |
5 |
105,166,438 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03392:Gbp8
|
APN |
5 |
105,164,410 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4458001:Gbp8
|
UTSW |
5 |
105,162,955 (GRCm39) |
missense |
probably benign |
|
|
R0180:Gbp8
|
UTSW |
5 |
105,179,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Gbp8
|
UTSW |
5 |
105,165,541 (GRCm39) |
splice site |
probably null |
|
|
R1370:Gbp8
|
UTSW |
5 |
105,164,442 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1772:Gbp8
|
UTSW |
5 |
105,163,987 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2261:Gbp8
|
UTSW |
5 |
105,163,999 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2262:Gbp8
|
UTSW |
5 |
105,163,999 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4050:Gbp8
|
UTSW |
5 |
105,179,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Gbp8
|
UTSW |
5 |
105,198,928 (GRCm39) |
unclassified |
probably benign |
|
|
R4649:Gbp8
|
UTSW |
5 |
105,189,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Gbp8
|
UTSW |
5 |
105,178,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5228:Gbp8
|
UTSW |
5 |
105,164,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5259:Gbp8
|
UTSW |
5 |
105,198,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Gbp8
|
UTSW |
5 |
105,165,696 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5696:Gbp8
|
UTSW |
5 |
105,166,682 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6352:Gbp8
|
UTSW |
5 |
105,162,926 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6767:Gbp8
|
UTSW |
5 |
105,166,478 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6847:Gbp8
|
UTSW |
5 |
105,179,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7127:Gbp8
|
UTSW |
5 |
105,165,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7188:Gbp8
|
UTSW |
5 |
105,164,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7402:Gbp8
|
UTSW |
5 |
105,179,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Gbp8
|
UTSW |
5 |
105,178,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Gbp8
|
UTSW |
5 |
105,178,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Gbp8
|
UTSW |
5 |
105,179,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Gbp8
|
UTSW |
5 |
105,198,783 (GRCm39) |
nonsense |
probably null |
|
|
R8146:Gbp8
|
UTSW |
5 |
105,178,844 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8205:Gbp8
|
UTSW |
5 |
105,198,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8230:Gbp8
|
UTSW |
5 |
105,198,735 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8425:Gbp8
|
UTSW |
5 |
105,165,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Gbp8
|
UTSW |
5 |
105,166,668 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9062:Gbp8
|
UTSW |
5 |
105,179,124 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9169:Gbp8
|
UTSW |
5 |
105,179,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9193:Gbp8
|
UTSW |
5 |
105,179,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Gbp8
|
UTSW |
5 |
105,198,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation