Incidental Mutation 'R4743:Gbp8'
ID |
358176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp8
|
Ensembl Gene |
ENSMUSG00000034438 |
Gene Name |
guanylate-binding protein 8 |
Synonyms |
5830443L24Rik |
MMRRC Submission |
041967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R4743 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105160379-105201475 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105178707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 203
(K203E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000112718]
|
AlphaFold |
Q2V6D6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031235
AA Change: K203E
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031235 Gene: ENSMUSG00000034438 AA Change: K203E
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
213 |
5.4e-91 |
PFAM |
Pfam:GBP_C
|
206 |
493 |
1e-115 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112718
AA Change: K203E
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108338 Gene: ENSMUSG00000034438 AA Change: K203E
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
|
Meta Mutation Damage Score |
0.1767 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
Dcaf10 |
T |
A |
4: 45,370,409 (GRCm39) |
S326T |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Epha1 |
G |
T |
6: 42,349,155 (GRCm39) |
T36K |
probably benign |
Het |
Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
Il6 |
T |
C |
5: 30,223,042 (GRCm39) |
Y120H |
probably damaging |
Het |
Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
Rabgap1l |
G |
T |
1: 160,281,353 (GRCm39) |
Q623K |
probably damaging |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Slain2 |
T |
A |
5: 73,114,927 (GRCm39) |
L386* |
probably null |
Het |
Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAATTTTGCTGTGCTATGGGCTC -3'
(R):5'- GCCAAGTGCCAGTTATGTCAC -3'
Sequencing Primer
(F):5'- GCTATGGGCTCTATTCTTTCCAAATG -3'
(R):5'- GTGCCAGTTATGTCACAGAACTC -3'
|
Posted On |
2015-11-11 |