Incidental Mutation 'IGL00576:Gbp8'
| ID |
6403 |
| 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 # |
IGL00576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105160379-105201475 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 105165754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000112718]
|
| AlphaFold |
Q2V6D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031235
|
| SMART Domains |
Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
T |
C |
2: 28,632,729 (GRCm39) |
L316P |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,388,028 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
A |
9: 8,997,621 (GRCm39) |
E835* |
probably null |
Het |
| Arid2 |
G |
A |
15: 96,254,639 (GRCm39) |
V162M |
probably damaging |
Het |
| Atp2a2 |
C |
T |
5: 122,596,146 (GRCm39) |
|
probably null |
Het |
| Bmper |
A |
G |
9: 23,317,899 (GRCm39) |
D506G |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,108 (GRCm39) |
F251L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,554,934 (GRCm39) |
D2048G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,341,882 (GRCm39) |
S1227N |
probably damaging |
Het |
| Dpp8 |
T |
A |
9: 64,951,111 (GRCm39) |
H182Q |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,883,280 (GRCm39) |
K798E |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,806,092 (GRCm39) |
I1843T |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,733 (GRCm39) |
N772S |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,508,212 (GRCm39) |
|
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,774,552 (GRCm39) |
R835G |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,773,145 (GRCm39) |
V836A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,359,948 (GRCm39) |
H192R |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,276 (GRCm39) |
F392L |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,794,885 (GRCm39) |
F1024L |
probably damaging |
Het |
| Vezf1 |
T |
A |
11: 87,964,470 (GRCm39) |
C19* |
probably null |
Het |
| Wdr47 |
A |
G |
3: 108,526,050 (GRCm39) |
N191S |
probably benign |
Het |
| Zfp7 |
T |
G |
15: 76,775,101 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
A |
T |
4: 147,910,778 (GRCm39) |
C273S |
probably damaging |
Het |
|
| Other mutations in Gbp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01289:Gbp8
|
APN |
5 |
105,165,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-04-20 |
Incidental Mutation