Incidental Mutation 'R0410:Gbp9'
| ID |
36574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
038612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0410 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105232939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 238
(T238A)
|
| 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: T238A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: T238A
| 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: T238A
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: T238A
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,268 (GRCm39) |
D170G |
probably benign |
Het |
| Actrt3 |
C |
T |
3: 30,652,273 (GRCm39) |
G274S |
probably benign |
Het |
| Adamts18 |
G |
T |
8: 114,440,990 (GRCm39) |
C889* |
probably null |
Het |
| Alkbh6 |
C |
T |
7: 30,012,031 (GRCm39) |
P104S |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,564,785 (GRCm39) |
E53V |
unknown |
Het |
| Ap3s1 |
T |
C |
18: 46,912,279 (GRCm39) |
C100R |
probably benign |
Het |
| Apbb2 |
G |
T |
5: 66,609,149 (GRCm39) |
A166E |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,595,415 (GRCm39) |
V174A |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,819 (GRCm39) |
L758P |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,195 (GRCm39) |
S271P |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Chn1 |
A |
T |
2: 73,462,094 (GRCm39) |
C236* |
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,362 (GRCm39) |
V7A |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,201,859 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,596,153 (GRCm39) |
D152G |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,483,467 (GRCm39) |
S84P |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,799 (GRCm39) |
D844G |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,482 (GRCm39) |
P77S |
possibly damaging |
Het |
| Efcab7 |
T |
C |
4: 99,735,487 (GRCm39) |
|
probably null |
Het |
| Fam83g |
A |
G |
11: 61,594,218 (GRCm39) |
D584G |
probably damaging |
Het |
| Fbxo7 |
T |
A |
10: 85,865,102 (GRCm39) |
|
probably null |
Het |
| Ffar1 |
T |
C |
7: 30,560,055 (GRCm39) |
T281A |
probably benign |
Het |
| Fntb |
T |
C |
12: 76,934,826 (GRCm39) |
V201A |
probably benign |
Het |
| Gart |
C |
A |
16: 91,438,215 (GRCm39) |
A101S |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,424,329 (GRCm39) |
L663S |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,872,386 (GRCm39) |
V2512E |
probably damaging |
Het |
| Hip1 |
A |
C |
5: 135,487,009 (GRCm39) |
L66R |
probably damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,375 (GRCm39) |
D164E |
probably benign |
Het |
| Kcnip3 |
A |
G |
2: 127,301,986 (GRCm39) |
S193P |
probably damaging |
Het |
| Klra9 |
T |
A |
6: 130,165,707 (GRCm39) |
T103S |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,694,709 (GRCm39) |
*471W |
probably null |
Het |
| Minar1 |
T |
G |
9: 89,484,256 (GRCm39) |
E380D |
probably damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,334,792 (GRCm39) |
S45P |
possibly damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,488 (GRCm39) |
E43G |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,372,569 (GRCm39) |
S4092R |
probably damaging |
Het |
| Nfatc3 |
A |
T |
8: 106,822,828 (GRCm39) |
N538I |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,641,503 (GRCm39) |
C1095R |
probably benign |
Het |
| Npm2 |
T |
A |
14: 70,889,993 (GRCm39) |
T13S |
probably benign |
Het |
| Or1m1 |
C |
A |
9: 18,666,137 (GRCm39) |
V265F |
probably damaging |
Het |
| Or7e176 |
T |
A |
9: 20,171,797 (GRCm39) |
F220L |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,342,112 (GRCm39) |
I1158F |
probably damaging |
Het |
| Popdc3 |
T |
C |
10: 45,193,829 (GRCm39) |
V210A |
possibly damaging |
Het |
| Postn |
T |
C |
3: 54,292,698 (GRCm39) |
L755S |
possibly damaging |
Het |
| Prdx6b |
T |
C |
2: 80,123,373 (GRCm39) |
F61L |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,847 (GRCm39) |
R223H |
probably damaging |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Scaf4 |
A |
G |
16: 90,057,058 (GRCm39) |
Y98H |
unknown |
Het |
| Scn4a |
A |
G |
11: 106,214,775 (GRCm39) |
I1274T |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,828,444 (GRCm39) |
R18L |
probably damaging |
Het |
| Six5 |
T |
A |
7: 18,830,381 (GRCm39) |
V336D |
probably damaging |
Het |
| Slc31a2 |
G |
A |
4: 62,210,890 (GRCm39) |
E8K |
probably benign |
Het |
| Slc4a7 |
A |
T |
14: 14,738,299 (GRCm38) |
T184S |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,950,513 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
G |
5: 88,156,070 (GRCm39) |
|
probably benign |
Het |
| Sqor |
T |
C |
2: 122,629,442 (GRCm39) |
V100A |
probably benign |
Het |
| Srarp |
T |
C |
4: 141,160,459 (GRCm39) |
N125D |
possibly damaging |
Het |
| Stam |
T |
C |
2: 14,143,802 (GRCm39) |
V364A |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,908,039 (GRCm39) |
I46V |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,337,766 (GRCm39) |
V443E |
probably damaging |
Het |
| Tipin |
T |
C |
9: 64,195,397 (GRCm39) |
M1T |
probably null |
Het |
| Tnc |
T |
C |
4: 63,925,931 (GRCm39) |
T950A |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,385,852 (GRCm39) |
D1382G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,911,686 (GRCm39) |
V99A |
possibly damaging |
Het |
| Trim16 |
C |
T |
11: 62,711,297 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
T |
2: 76,618,701 (GRCm39) |
N14448K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,717,204 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,343,752 (GRCm39) |
R255G |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,175 (GRCm39) |
I201T |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,679 (GRCm39) |
K339N |
probably benign |
Het |
| Yap1 |
A |
G |
9: 8,001,468 (GRCm39) |
Y173H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAACTCACTATTCCCGGTGACC -3'
(R):5'- TGTTCAGTCAACAGGACACCACAG -3'
Sequencing Primer
(F):5'- GGTGACCTTAATTCCCTCTCTGAG -3'
(R):5'- GCTTAAAGCCATGTTCAGGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation