Incidental Mutation 'IGL02474:Gbp9'
| ID |
294880 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 105242433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031235]
[ENSMUST00000031238]
[ENSMUST00000100961]
|
| AlphaFold |
Q8BTS3 |
| 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: ENSMUST00000031238
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
1.2e-117 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100961
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
3.8e-124 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196820
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,038,491 (GRCm39) |
E283G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,982,297 (GRCm39) |
I1194V |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,943,127 (GRCm39) |
N1149Y |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,046,118 (GRCm39) |
T1461P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,883,397 (GRCm39) |
S113P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Cramp1 |
A |
G |
17: 25,204,024 (GRCm39) |
V318A |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,975 (GRCm39) |
V163A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,669,708 (GRCm39) |
D439G |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,180 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
C |
A |
6: 126,857,194 (GRCm39) |
C495F |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,198,244 (GRCm39) |
V402A |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,538 (GRCm39) |
M643V |
possibly damaging |
Het |
| Ginm1 |
A |
G |
10: 7,653,532 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,394,217 (GRCm39) |
D282E |
probably damaging |
Het |
| Gm5799 |
T |
C |
14: 43,782,086 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
| Gng12 |
A |
G |
6: 66,992,745 (GRCm39) |
K4R |
probably benign |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,182 (GRCm39) |
D556E |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,719,107 (GRCm39) |
L1153Q |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,213,526 (GRCm39) |
L17Q |
probably null |
Het |
| Mc5r |
T |
C |
18: 68,471,910 (GRCm39) |
F90L |
probably damaging |
Het |
| Or1x2 |
C |
A |
11: 50,918,192 (GRCm39) |
A121D |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,019 (GRCm39) |
S18T |
probably benign |
Het |
| Or6b13 |
T |
C |
7: 139,782,500 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,682,897 (GRCm39) |
M284K |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,656 (GRCm39) |
I181L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,293 (GRCm39) |
Y6N |
probably damaging |
Het |
| Polr2g |
C |
A |
19: 8,775,820 (GRCm39) |
|
probably null |
Het |
| Psme3 |
A |
G |
11: 101,208,480 (GRCm39) |
Q82R |
probably benign |
Het |
| Rab11a |
G |
T |
9: 64,633,929 (GRCm39) |
T17K |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,940,017 (GRCm39) |
L85Q |
probably damaging |
Het |
| Skap1 |
A |
T |
11: 96,599,512 (GRCm39) |
Y188F |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,326,536 (GRCm39) |
F34I |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,771,854 (GRCm39) |
I98S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,708,532 (GRCm39) |
|
probably benign |
Het |
| Ube2t |
A |
T |
1: 134,899,079 (GRCm39) |
K21* |
probably null |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,647 (GRCm39) |
V110A |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,150 (GRCm39) |
F736I |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,845,158 (GRCm39) |
T2081A |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Gbp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gbp9
|
APN |
5 |
105,229,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00419:Gbp9
|
APN |
5 |
105,241,943 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00425:Gbp9
|
APN |
5 |
105,253,620 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00597:Gbp9
|
APN |
5 |
105,242,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01362:Gbp9
|
APN |
5 |
105,228,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01679:Gbp9
|
APN |
5 |
105,233,038 (GRCm39) |
splice site |
probably null |
|
|
IGL01803:Gbp9
|
APN |
5 |
105,232,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01803:Gbp9
|
APN |
5 |
105,242,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Gbp9
|
APN |
5 |
105,230,673 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02633:Gbp9
|
APN |
5 |
105,231,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Gbp9
|
APN |
5 |
105,242,141 (GRCm39) |
splice site |
probably null |
|
|
IGL02689:Gbp9
|
APN |
5 |
105,253,662 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02812:Gbp9
|
APN |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Gbp9
|
APN |
5 |
105,232,819 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03274:Gbp9
|
APN |
5 |
105,230,652 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0410:Gbp9
|
UTSW |
5 |
105,232,939 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1018:Gbp9
|
UTSW |
5 |
105,228,126 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1479:Gbp9
|
UTSW |
5 |
105,241,930 (GRCm39) |
splice site |
probably benign |
|
|
R1655:Gbp9
|
UTSW |
5 |
105,229,558 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1658:Gbp9
|
UTSW |
5 |
105,242,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Gbp9
|
UTSW |
5 |
105,242,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Gbp9
|
UTSW |
5 |
105,229,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1986:Gbp9
|
UTSW |
5 |
105,253,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Gbp9
|
UTSW |
5 |
105,242,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Gbp9
|
UTSW |
5 |
105,241,958 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2378:Gbp9
|
UTSW |
5 |
105,228,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2997:Gbp9
|
UTSW |
5 |
105,230,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3745:Gbp9
|
UTSW |
5 |
105,253,724 (GRCm39) |
start gained |
probably benign |
|
|
R4182:Gbp9
|
UTSW |
5 |
105,231,461 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4485:Gbp9
|
UTSW |
5 |
105,231,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4718:Gbp9
|
UTSW |
5 |
105,231,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Gbp9
|
UTSW |
5 |
105,233,028 (GRCm39) |
missense |
probably benign |
|
|
R5099:Gbp9
|
UTSW |
5 |
105,242,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Gbp9
|
UTSW |
5 |
105,228,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5199:Gbp9
|
UTSW |
5 |
105,231,678 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5712:Gbp9
|
UTSW |
5 |
105,242,421 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5751:Gbp9
|
UTSW |
5 |
105,229,124 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5895:Gbp9
|
UTSW |
5 |
105,230,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Gbp9
|
UTSW |
5 |
105,231,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6646:Gbp9
|
UTSW |
5 |
105,230,769 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7559:Gbp9
|
UTSW |
5 |
105,232,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Gbp9
|
UTSW |
5 |
105,251,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8042:Gbp9
|
UTSW |
5 |
105,242,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Gbp9
|
UTSW |
5 |
105,253,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Gbp9
|
UTSW |
5 |
105,229,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8354:Gbp9
|
UTSW |
5 |
105,242,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8395:Gbp9
|
UTSW |
5 |
105,228,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Gbp9
|
UTSW |
5 |
105,231,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8751:Gbp9
|
UTSW |
5 |
105,229,117 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8808:Gbp9
|
UTSW |
5 |
105,232,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9105:Gbp9
|
UTSW |
5 |
105,241,942 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9116:Gbp9
|
UTSW |
5 |
105,231,695 (GRCm39) |
missense |
|
|
|
R9354:Gbp9
|
UTSW |
5 |
105,232,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9513:Gbp9
|
UTSW |
5 |
105,229,091 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Gbp9
|
UTSW |
5 |
105,231,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Gbp9
|
UTSW |
5 |
105,253,587 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Gbp9
|
UTSW |
5 |
105,241,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation