Incidental Mutation 'IGL02812:Gbp9'
ID |
360604 |
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 # |
IGL02812
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105231624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 321
(N321D)
|
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: N321D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031238 Gene: ENSMUSG00000029298 AA Change: N321D
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: N321D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098521 Gene: ENSMUSG00000029298 AA Change: N321D
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,841,881 (GRCm39) |
V1005L |
possibly damaging |
Het |
Abcc9 |
A |
G |
6: 142,643,516 (GRCm39) |
S11P |
possibly damaging |
Het |
Acsl1 |
A |
T |
8: 46,945,873 (GRCm39) |
E2V |
possibly damaging |
Het |
Aox3 |
G |
A |
1: 58,205,055 (GRCm39) |
V757I |
probably benign |
Het |
Aqp4 |
T |
C |
18: 15,530,632 (GRCm39) |
|
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,831,245 (GRCm39) |
|
probably benign |
Het |
Armc9 |
T |
A |
1: 86,172,293 (GRCm39) |
D2E |
probably damaging |
Het |
Celsr2 |
G |
A |
3: 108,321,429 (GRCm39) |
P461L |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,570,080 (GRCm39) |
D1339G |
probably damaging |
Het |
Clk1 |
T |
A |
1: 58,453,635 (GRCm39) |
N317I |
probably damaging |
Het |
Comp |
G |
A |
8: 70,829,337 (GRCm39) |
G305S |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,050,712 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
C |
10: 34,059,712 (GRCm39) |
E131G |
probably damaging |
Het |
Ecpas |
T |
A |
4: 58,864,343 (GRCm39) |
|
probably benign |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Epha2 |
A |
G |
4: 141,046,230 (GRCm39) |
|
probably benign |
Het |
Fam243 |
A |
G |
16: 92,117,616 (GRCm39) |
I224T |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,592 (GRCm39) |
|
probably benign |
Het |
Gm5884 |
A |
G |
6: 128,622,738 (GRCm39) |
|
noncoding transcript |
Het |
Gp2 |
A |
T |
7: 119,051,452 (GRCm39) |
N254K |
probably benign |
Het |
Hgh1 |
T |
A |
15: 76,253,754 (GRCm39) |
|
probably null |
Het |
Inpp5f |
A |
G |
7: 128,284,030 (GRCm39) |
N543S |
probably damaging |
Het |
Ints7 |
T |
C |
1: 191,351,853 (GRCm39) |
V854A |
probably damaging |
Het |
Itgb1bp1 |
T |
G |
12: 21,320,879 (GRCm39) |
|
probably benign |
Het |
Lrrtm4 |
A |
T |
6: 79,998,947 (GRCm39) |
N120Y |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,900,782 (GRCm39) |
S319P |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,318 (GRCm39) |
L265S |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,378,869 (GRCm39) |
|
probably benign |
Het |
Mre11a |
T |
A |
9: 14,701,966 (GRCm39) |
|
probably null |
Het |
Msh4 |
T |
C |
3: 153,607,037 (GRCm39) |
|
probably benign |
Het |
Mterf4 |
A |
G |
1: 93,232,455 (GRCm39) |
L132P |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,368,005 (GRCm39) |
E255V |
probably benign |
Het |
Myot |
T |
C |
18: 44,479,127 (GRCm39) |
V288A |
probably damaging |
Het |
Nipa2 |
T |
C |
7: 55,592,766 (GRCm39) |
Y53C |
probably damaging |
Het |
Npas1 |
T |
A |
7: 16,190,041 (GRCm39) |
I502F |
probably damaging |
Het |
Or12j5 |
C |
T |
7: 140,083,533 (GRCm39) |
V280M |
probably damaging |
Het |
Or2y1d |
T |
A |
11: 49,321,749 (GRCm39) |
W149R |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,664,637 (GRCm39) |
V565A |
probably benign |
Het |
Otof |
A |
G |
5: 30,531,426 (GRCm39) |
S1666P |
probably benign |
Het |
Per3 |
A |
C |
4: 151,108,927 (GRCm39) |
S476A |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,604,789 (GRCm39) |
N465D |
probably damaging |
Het |
Pla2g4c |
T |
C |
7: 13,082,290 (GRCm39) |
F512S |
probably damaging |
Het |
Plcd4 |
T |
A |
1: 74,596,967 (GRCm39) |
L403Q |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,209,080 (GRCm39) |
T443A |
probably benign |
Het |
Snapc4 |
T |
A |
2: 26,259,384 (GRCm39) |
T589S |
probably benign |
Het |
Spag8 |
G |
A |
4: 43,651,755 (GRCm39) |
R404W |
probably damaging |
Het |
Tdrd7 |
A |
G |
4: 45,994,406 (GRCm39) |
D268G |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,213,151 (GRCm39) |
H325R |
possibly damaging |
Het |
Vmn1r59 |
C |
T |
7: 5,457,176 (GRCm39) |
V195I |
probably damaging |
Het |
Vmn1r67 |
G |
A |
7: 10,180,945 (GRCm39) |
E70K |
probably benign |
Het |
Wdr18 |
T |
A |
10: 79,796,898 (GRCm39) |
N91K |
possibly damaging |
Het |
Zbtb7b |
T |
C |
3: 89,287,081 (GRCm39) |
T463A |
probably damaging |
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 |
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 |
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 |
2015-12-18 |