Incidental Mutation 'IGL00094:Gbp9'
ID |
1643 |
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 # |
IGL00094
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105229130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 506
(K506E)
|
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
AA Change: K506E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031238 Gene: ENSMUSG00000029298 AA Change: K506E
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
AA Change: K506E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000098521 Gene: ENSMUSG00000029298 AA Change: K506E
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,591,254 (GRCm39) |
N547K |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,247,443 (GRCm39) |
T2397A |
probably benign |
Het |
Abcc1 |
A |
G |
16: 14,288,398 (GRCm39) |
N1341S |
probably null |
Het |
Adcy9 |
T |
A |
16: 4,122,446 (GRCm39) |
I535L |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,187,763 (GRCm39) |
S1726G |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,577,813 (GRCm39) |
M5V |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,889,019 (GRCm39) |
N299K |
probably benign |
Het |
B3gnt2 |
C |
T |
11: 22,786,151 (GRCm39) |
V346I |
probably benign |
Het |
Ceacam14 |
G |
A |
7: 17,548,062 (GRCm39) |
V51I |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,634,682 (GRCm39) |
D812G |
probably damaging |
Het |
Cfap97d1 |
A |
G |
11: 101,881,646 (GRCm39) |
E114G |
possibly damaging |
Het |
Chrna9 |
T |
C |
5: 66,126,600 (GRCm39) |
V118A |
probably benign |
Het |
Cpsf7 |
A |
G |
19: 10,517,151 (GRCm39) |
R418G |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,052,075 (GRCm39) |
Y215H |
probably damaging |
Het |
Dcaf5 |
A |
C |
12: 80,386,097 (GRCm39) |
N676K |
probably benign |
Het |
Dld |
A |
T |
12: 31,385,576 (GRCm39) |
M255K |
probably benign |
Het |
Esr2 |
A |
T |
12: 76,180,670 (GRCm39) |
L417H |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,820,730 (GRCm39) |
S5488T |
probably benign |
Het |
Gatb |
A |
T |
3: 85,509,227 (GRCm39) |
I130L |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,229,568 (GRCm39) |
N703S |
probably damaging |
Het |
Itgb3 |
T |
A |
11: 104,524,410 (GRCm39) |
V182E |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,617,426 (GRCm39) |
Y582F |
probably damaging |
Het |
Lancl2 |
T |
A |
6: 57,701,522 (GRCm39) |
|
probably benign |
Het |
Lgals3 |
A |
G |
14: 47,622,175 (GRCm39) |
K197R |
probably benign |
Het |
Lipe |
T |
C |
7: 25,082,977 (GRCm39) |
T767A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,338,123 (GRCm39) |
D1219V |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,806,698 (GRCm39) |
C116S |
probably benign |
Het |
Mcm5 |
T |
G |
8: 75,851,573 (GRCm39) |
|
probably null |
Het |
Mtpn |
G |
T |
6: 35,499,711 (GRCm39) |
T31K |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,460,486 (GRCm39) |
Y1494N |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,274,350 (GRCm39) |
E498* |
probably null |
Het |
Nos1 |
T |
G |
5: 118,048,165 (GRCm39) |
S657A |
probably damaging |
Het |
Nr3c1 |
A |
T |
18: 39,561,661 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
Or13a17 |
A |
T |
7: 140,271,349 (GRCm39) |
H177L |
probably damaging |
Het |
Or4c127 |
T |
A |
2: 89,833,365 (GRCm39) |
I205N |
possibly damaging |
Het |
Or7g32 |
T |
A |
9: 19,408,155 (GRCm39) |
I37N |
probably damaging |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,299 (GRCm39) |
V36G |
possibly damaging |
Het |
Or9i1 |
A |
T |
19: 13,839,150 (GRCm39) |
|
probably benign |
Het |
Osbp2 |
T |
G |
11: 3,661,848 (GRCm39) |
S735R |
probably benign |
Het |
Otop3 |
A |
T |
11: 115,235,279 (GRCm39) |
T304S |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,278,128 (GRCm39) |
L369F |
probably damaging |
Het |
Pick1 |
T |
C |
15: 79,131,457 (GRCm39) |
|
probably benign |
Het |
Prlhr |
A |
T |
19: 60,456,119 (GRCm39) |
V149E |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,280,598 (GRCm39) |
|
probably benign |
Het |
Rab19 |
A |
T |
6: 39,365,132 (GRCm39) |
|
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,776 (GRCm39) |
W5R |
probably damaging |
Het |
Rfx4 |
T |
A |
10: 84,676,063 (GRCm39) |
L44Q |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,661 (GRCm39) |
T760A |
probably damaging |
Het |
Shcbp1 |
A |
C |
8: 4,804,258 (GRCm39) |
Y145* |
probably null |
Het |
Snx31 |
T |
A |
15: 36,545,761 (GRCm39) |
|
probably null |
Het |
Spopl |
A |
T |
2: 23,427,643 (GRCm39) |
V163E |
possibly damaging |
Het |
Sqor |
T |
C |
2: 122,629,463 (GRCm39) |
I107T |
probably damaging |
Het |
Tcte1 |
T |
C |
17: 45,845,854 (GRCm39) |
F153L |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,123,238 (GRCm39) |
H121L |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,643 (GRCm39) |
Y10* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,904,603 (GRCm39) |
G1123C |
probably damaging |
Het |
Wdr62 |
T |
C |
7: 29,942,948 (GRCm39) |
E515G |
probably benign |
Het |
Zfand1 |
A |
T |
3: 10,413,590 (GRCm39) |
D32E |
probably null |
Het |
Zfp112 |
A |
C |
7: 23,821,668 (GRCm39) |
T3P |
probably damaging |
Het |
|
Other mutations in Gbp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |