Incidental Mutation 'R8395:Gbp9'
| ID |
647561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
067759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105228069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 571
(I571K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031238
(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: I571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: I571K
| 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: I571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: I571K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
3.8e-124 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
4.5e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
| Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
| Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
| Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
| Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
| Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
| Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
| Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
| Map9 |
A |
G |
3: 82,289,276 (GRCm39) |
I455V |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,684,257 (GRCm39) |
V93A |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
| Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
| Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
| Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
| Slc43a1 |
T |
C |
2: 84,671,266 (GRCm39) |
L67P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,239 (GRCm39) |
H470R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
| Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
| Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
| Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
| Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
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 |
|
|
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 |
|
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'- GCCATGCATGAGCTGTTCTG -3'
(R):5'- GCATCTTCTTCATGGTAAGGGAAAG -3'
Sequencing Primer
(F):5'- CCTTCGCTGAGTGAAAATAGAAAAC -3'
(R):5'- GTTTTTAGGAATACACTAAGGTCTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation