Incidental Mutation 'R1655:Gbp9'
| ID |
189014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp9
|
| Ensembl Gene |
ENSMUSG00000029298 |
| Gene Name |
guanylate-binding protein 9 |
| Synonyms |
|
| MMRRC Submission |
039691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105077630-105139539 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105081692 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 472
(Q472L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031238
AA Change: Q472L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q472L
| 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 |
possibly damaging
Transcript: ENSMUST00000100961
AA Change: Q472L
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q472L
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833427G06Rik |
A |
T |
9: 51,083,621 (GRCm38) |
I136N |
probably damaging |
Het |
| 9530053A07Rik |
A |
T |
7: 28,147,110 (GRCm38) |
N1076Y |
probably damaging |
Het |
| A730061H03Rik |
A |
T |
14: 55,560,333 (GRCm38) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm38) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,803,108 (GRCm38) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,213,397 (GRCm38) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,340,883 (GRCm38) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,642,520 (GRCm38) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,645,867 (GRCm38) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,437,427 (GRCm38) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,598,776 (GRCm38) |
M313K |
possibly damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,373,689 (GRCm38) |
I326F |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,196,340 (GRCm38) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 183,087,004 (GRCm38) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,473,854 (GRCm38) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,205,732 (GRCm38) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,282,576 (GRCm38) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,661,198 (GRCm38) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,910,866 (GRCm38) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 58,052,584 (GRCm38) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,957,318 (GRCm38) |
V2189A |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,571,851 (GRCm38) |
I934T |
probably damaging |
Het |
| Gimap5 |
G |
T |
6: 48,753,176 (GRCm38) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,780,043 (GRCm38) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,382,905 (GRCm38) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 181,234,147 (GRCm38) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,630,333 (GRCm38) |
V3814A |
probably benign |
Het |
| Ifna7 |
A |
G |
4: 88,816,660 (GRCm38) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 128,115,163 (GRCm38) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,376,148 (GRCm38) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,220,211 (GRCm38) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,811,824 (GRCm38) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 75,108,563 (GRCm38) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,132,455 (GRCm38) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 147,060,228 (GRCm38) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,632,872 (GRCm38) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,698,245 (GRCm38) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,449,651 (GRCm38) |
I228F |
possibly damaging |
Het |
| Olfr1047 |
A |
G |
2: 86,228,080 (GRCm38) |
V297A |
possibly damaging |
Het |
| Olfr1339 |
A |
G |
4: 118,734,999 (GRCm38) |
S157G |
probably benign |
Het |
| Olfr368 |
A |
G |
2: 37,331,939 (GRCm38) |
Y64C |
probably damaging |
Het |
| Olfr483 |
A |
T |
7: 108,103,464 (GRCm38) |
I52F |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,460,316 (GRCm38) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,448,768 (GRCm38) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 122,496,822 (GRCm38) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,584,129 (GRCm38) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,335,922 (GRCm38) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,747,800 (GRCm38) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,107,236 (GRCm38) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,383,534 (GRCm38) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 40,831,596 (GRCm38) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,860,895 (GRCm38) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,772,212 (GRCm38) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,100,944 (GRCm38) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,191,782 (GRCm38) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 39,080,117 (GRCm38) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 107,046,212 (GRCm38) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,257,378 (GRCm38) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,465,899 (GRCm38) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,069,419 (GRCm38) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 16,141,135 (GRCm38) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,330,024 (GRCm38) |
I103V |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,216 (GRCm38) |
Y346* |
probably null |
Het |
| Tg |
T |
G |
15: 66,828,568 (GRCm38) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,703,696 (GRCm38) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,873,227 (GRCm38) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,651,695 (GRCm38) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,672,756 (GRCm38) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,375,051 (GRCm38) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm38) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,177,266 (GRCm38) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,703,554 (GRCm38) |
V709A |
possibly damaging |
Het |
|
| Other mutations in Gbp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Gbp9
|
APN |
5 |
105,081,264 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00419:Gbp9
|
APN |
5 |
105,094,077 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL00425:Gbp9
|
APN |
5 |
105,105,754 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL00597:Gbp9
|
APN |
5 |
105,094,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01362:Gbp9
|
APN |
5 |
105,080,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01679:Gbp9
|
APN |
5 |
105,085,172 (GRCm38) |
splice site |
probably null |
|
|
IGL01803:Gbp9
|
APN |
5 |
105,085,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01803:Gbp9
|
APN |
5 |
105,094,173 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02054:Gbp9
|
APN |
5 |
105,082,807 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02474:Gbp9
|
APN |
5 |
105,094,567 (GRCm38) |
splice site |
probably benign |
|
|
IGL02633:Gbp9
|
APN |
5 |
105,083,565 (GRCm38) |
splice site |
probably benign |
|
|
IGL02666:Gbp9
|
APN |
5 |
105,094,275 (GRCm38) |
splice site |
probably null |
|
|
IGL02689:Gbp9
|
APN |
5 |
105,105,796 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02812:Gbp9
|
APN |
5 |
105,083,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03132:Gbp9
|
APN |
5 |
105,084,953 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL03274:Gbp9
|
APN |
5 |
105,082,786 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0410:Gbp9
|
UTSW |
5 |
105,085,073 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1018:Gbp9
|
UTSW |
5 |
105,080,260 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1479:Gbp9
|
UTSW |
5 |
105,094,064 (GRCm38) |
splice site |
probably benign |
|
|
R1658:Gbp9
|
UTSW |
5 |
105,094,468 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1757:Gbp9
|
UTSW |
5 |
105,094,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1950:Gbp9
|
UTSW |
5 |
105,081,246 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1986:Gbp9
|
UTSW |
5 |
105,105,786 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1986:Gbp9
|
UTSW |
5 |
105,105,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2124:Gbp9
|
UTSW |
5 |
105,094,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2302:Gbp9
|
UTSW |
5 |
105,094,092 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R2378:Gbp9
|
UTSW |
5 |
105,080,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2997:Gbp9
|
UTSW |
5 |
105,082,769 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3745:Gbp9
|
UTSW |
5 |
105,105,858 (GRCm38) |
start gained |
probably benign |
|
|
R4182:Gbp9
|
UTSW |
5 |
105,083,595 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4485:Gbp9
|
UTSW |
5 |
105,083,808 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4718:Gbp9
|
UTSW |
5 |
105,083,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5063:Gbp9
|
UTSW |
5 |
105,085,162 (GRCm38) |
missense |
probably benign |
|
|
R5099:Gbp9
|
UTSW |
5 |
105,094,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5104:Gbp9
|
UTSW |
5 |
105,080,141 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5199:Gbp9
|
UTSW |
5 |
105,083,812 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5712:Gbp9
|
UTSW |
5 |
105,094,555 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5751:Gbp9
|
UTSW |
5 |
105,081,258 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5895:Gbp9
|
UTSW |
5 |
105,082,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6360:Gbp9
|
UTSW |
5 |
105,083,730 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6646:Gbp9
|
UTSW |
5 |
105,082,903 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7559:Gbp9
|
UTSW |
5 |
105,085,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7819:Gbp9
|
UTSW |
5 |
105,103,879 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8042:Gbp9
|
UTSW |
5 |
105,094,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8288:Gbp9
|
UTSW |
5 |
105,105,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8303:Gbp9
|
UTSW |
5 |
105,081,305 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8354:Gbp9
|
UTSW |
5 |
105,094,161 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8395:Gbp9
|
UTSW |
5 |
105,080,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8397:Gbp9
|
UTSW |
5 |
105,083,598 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8751:Gbp9
|
UTSW |
5 |
105,081,251 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8808:Gbp9
|
UTSW |
5 |
105,085,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9105:Gbp9
|
UTSW |
5 |
105,094,076 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9116:Gbp9
|
UTSW |
5 |
105,083,829 (GRCm38) |
missense |
|
|
|
R9354:Gbp9
|
UTSW |
5 |
105,084,959 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9513:Gbp9
|
UTSW |
5 |
105,081,225 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9709:Gbp9
|
UTSW |
5 |
105,083,676 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9717:Gbp9
|
UTSW |
5 |
105,105,721 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Gbp9
|
UTSW |
5 |
105,094,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACCGAGAACTGCCTGTTG -3'
(R):5'- GAAGTATCCACTGCCACTGAAGAGC -3'
Sequencing Primer
(F):5'- GAACTGCCTGTTGCTTCCAAG -3'
(R):5'- TGAGCCATGTGCAGGCTTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation