Incidental Mutation 'R5099:Gbp9'
ID |
388171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp9
|
Ensembl Gene |
ENSMUSG00000029298 |
Gene Name |
guanylate-binding protein 9 |
Synonyms |
|
MMRRC Submission |
042688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5099 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105242379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 120
(L120Q)
|
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: L120Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031238 Gene: ENSMUSG00000029298 AA Change: L120Q
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: L120Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098521 Gene: ENSMUSG00000029298 AA Change: L120Q
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
|
Meta Mutation Damage Score |
0.8347 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCATGCACACGCTCTCATG -3'
(R):5'- TCCTTTAACCAGGAGGAGGG -3'
Sequencing Primer
(F):5'- TAAATCATCCTAAACACTCTGCTCTG -3'
(R):5'- CCTTTAACCAGGAGGAGGGTTTTTG -3'
|
Posted On |
2016-06-06 |