Incidental Mutation 'IGL01362:Gbp9'
| ID |
75777 |
| 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: 0.054)
|
| Stock # |
IGL01362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105228072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 570
(E570G)
|
| 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 damaging
Transcript: ENSMUST00000031238
AA Change: E570G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: E570G
| 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 damaging
Transcript: ENSMUST00000100961
AA Change: E570G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: E570G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199453
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
| Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
| Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
| Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
| Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
| Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
| Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
| Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
| Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
| Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
| Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
| Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
| Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
| Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
| Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
| Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
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 |
|
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 |
|
IGL02474:Gbp9
|
APN |
5 |
105,242,433 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation