Incidental Mutation 'R1018:Gbp9'
| ID |
96569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
039122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105228126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 552
(Q552L)
|
| 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: Q552L
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q552L
| 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: Q552L
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q552L
| 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
|
| Meta Mutation Damage Score |
0.3796 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
| Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,596,876 (GRCm39) |
|
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
| Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
| Cnn2 |
T |
C |
10: 79,829,397 (GRCm39) |
C176R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
| Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
| Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
| Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,599,583 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
| P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
| Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,589,589 (GRCm39) |
C601F |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,122,185 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
| Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
| Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
| Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
| Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
| Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGTGTGCAGGACACAGCC -3'
(R):5'- GCTCTGCTAGTGTCGCAACTGAAAC -3'
Sequencing Primer
(F):5'- CCTTCGCTGAGTGAAAATAGAAAAC -3'
(R):5'- GACTAGTAAAGTTTCAACCCTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation