Incidental Mutation 'IGL03392:Gbp8'
ID |
421119 |
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: 0.096)
|
Stock # |
IGL03392
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105160379-105201475 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 105164410 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 null
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 null
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
Col13a1 |
A |
T |
10: 61,721,490 (GRCm39) |
L305I |
possibly damaging |
Het |
Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
Cry1 |
A |
G |
10: 84,992,993 (GRCm39) |
V75A |
possibly damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
Lgi4 |
G |
A |
7: 30,762,605 (GRCm39) |
|
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,573,563 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
Spon1 |
A |
G |
7: 113,633,522 (GRCm39) |
E655G |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
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 |
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 |
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 |
2016-08-02 |