Incidental Mutation 'R7559:Gbp9'
ID |
584936 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp9
|
Ensembl Gene |
ENSMUSG00000029298 |
Gene Name |
guanylate-binding protein 9 |
Synonyms |
|
MMRRC Submission |
045653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R7559 (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 G
at 105232975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 226
(F226L)
|
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: F226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031238 Gene: ENSMUSG00000029298 AA Change: F226L
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: F226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098521 Gene: ENSMUSG00000029298 AA Change: F226L
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: 98.9%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
A |
5: 139,265,295 (GRCm39) |
R206L |
probably damaging |
Het |
Adcy3 |
A |
G |
12: 4,248,440 (GRCm39) |
K501E |
probably benign |
Het |
Agl |
T |
C |
3: 116,545,764 (GRCm39) |
D679G |
|
Het |
Ankrd10 |
A |
T |
8: 11,662,548 (GRCm39) |
V395D |
probably damaging |
Het |
Ano5 |
A |
G |
7: 51,224,636 (GRCm39) |
I531V |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,761 (GRCm39) |
H202L |
possibly damaging |
Het |
Atp6v1c2 |
A |
C |
12: 17,351,215 (GRCm39) |
I105M |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Coro1b |
T |
C |
19: 4,200,220 (GRCm39) |
|
probably null |
Het |
D930020B18Rik |
A |
G |
10: 121,492,131 (GRCm39) |
|
probably benign |
Het |
Dcst2 |
T |
C |
3: 89,276,021 (GRCm39) |
F384S |
possibly damaging |
Het |
Ddx39a |
T |
A |
8: 84,447,595 (GRCm39) |
F147I |
possibly damaging |
Het |
Drosha |
A |
G |
15: 12,842,508 (GRCm39) |
E393G |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
Fam20c |
G |
T |
5: 138,778,954 (GRCm39) |
E287D |
possibly damaging |
Het |
Flnc |
T |
A |
6: 29,459,009 (GRCm39) |
D2463E |
probably damaging |
Het |
Flt4 |
A |
T |
11: 49,535,198 (GRCm39) |
I1209F |
possibly damaging |
Het |
Foxp1 |
T |
C |
6: 98,922,521 (GRCm39) |
D437G |
unknown |
Het |
Fras1 |
T |
C |
5: 96,888,713 (GRCm39) |
V2753A |
possibly damaging |
Het |
Ftsj3 |
T |
C |
11: 106,143,813 (GRCm39) |
D277G |
possibly damaging |
Het |
Gad1 |
T |
C |
2: 70,394,256 (GRCm39) |
|
probably null |
Het |
Gal3st2c |
A |
G |
1: 93,937,075 (GRCm39) |
Y340C |
probably damaging |
Het |
Gm11992 |
C |
T |
11: 9,002,747 (GRCm39) |
P37S |
possibly damaging |
Het |
Gm19668 |
G |
T |
10: 77,634,572 (GRCm39) |
C132* |
probably null |
Het |
Hdac3 |
A |
T |
18: 38,078,569 (GRCm39) |
F139I |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,453,573 (GRCm39) |
|
probably null |
Het |
Helz |
T |
A |
11: 107,491,104 (GRCm39) |
S162T |
possibly damaging |
Het |
Hspb6 |
C |
A |
7: 30,253,712 (GRCm39) |
S75Y |
probably damaging |
Het |
Il17rb |
T |
A |
14: 29,719,000 (GRCm39) |
I361F |
probably damaging |
Het |
Iqsec3 |
A |
T |
6: 121,364,739 (GRCm39) |
V850D |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,924,487 (GRCm39) |
E1840G |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,812,380 (GRCm39) |
K939R |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,124,662 (GRCm39) |
R496* |
probably null |
Het |
Lsm14a |
A |
T |
7: 34,052,826 (GRCm39) |
C374* |
probably null |
Het |
Luc7l |
T |
C |
17: 26,474,089 (GRCm39) |
L49P |
probably damaging |
Het |
Mdga2 |
A |
C |
12: 66,520,003 (GRCm39) |
C988G |
probably damaging |
Het |
Mtf1 |
T |
C |
4: 124,713,999 (GRCm39) |
V136A |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,116,413 (GRCm39) |
I1016F |
probably benign |
Het |
Nadsyn1 |
C |
A |
7: 143,361,804 (GRCm39) |
A306S |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
Opcml |
A |
T |
9: 28,814,620 (GRCm39) |
T291S |
probably benign |
Het |
Or13a24 |
T |
A |
7: 140,154,356 (GRCm39) |
C97S |
probably damaging |
Het |
Or52u1 |
C |
A |
7: 104,237,087 (GRCm39) |
H25Q |
probably damaging |
Het |
Or56b1b |
C |
T |
7: 108,164,763 (GRCm39) |
A80T |
probably damaging |
Het |
Osbp2 |
C |
G |
11: 3,662,493 (GRCm39) |
K196N |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,743,149 (GRCm39) |
V792A |
probably damaging |
Het |
Pcmtd1 |
A |
G |
1: 7,239,766 (GRCm39) |
D245G |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,039,896 (GRCm39) |
V1428A |
unknown |
Het |
Pik3r4 |
A |
G |
9: 105,555,352 (GRCm39) |
H1103R |
probably benign |
Het |
Pjvk |
C |
T |
2: 76,486,154 (GRCm39) |
H185Y |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,351,072 (GRCm39) |
V639A |
probably benign |
Het |
Pklr |
T |
C |
3: 89,050,365 (GRCm39) |
S405P |
probably damaging |
Het |
Pla2g12a |
T |
A |
3: 129,672,569 (GRCm39) |
Y68N |
probably damaging |
Het |
Proz |
A |
G |
8: 13,113,455 (GRCm39) |
H92R |
probably benign |
Het |
Sec23ip |
G |
T |
7: 128,379,074 (GRCm39) |
V844F |
possibly damaging |
Het |
Sema3f |
A |
G |
9: 107,561,777 (GRCm39) |
V520A |
possibly damaging |
Het |
Serpinb12 |
A |
G |
1: 106,881,453 (GRCm39) |
I197V |
probably damaging |
Het |
Sim2 |
A |
T |
16: 93,910,218 (GRCm39) |
I207F |
possibly damaging |
Het |
Slc15a2 |
C |
T |
16: 36,572,259 (GRCm39) |
V702I |
probably benign |
Het |
Slc35f4 |
T |
C |
14: 49,541,732 (GRCm39) |
I341V |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,800,452 (GRCm39) |
Y397C |
probably damaging |
Het |
Spire1 |
A |
T |
18: 67,634,187 (GRCm39) |
M417K |
probably benign |
Het |
Srcap |
T |
C |
7: 127,129,722 (GRCm39) |
S515P |
unknown |
Het |
Tfrc |
T |
A |
16: 32,440,235 (GRCm39) |
|
probably null |
Het |
Topors |
A |
G |
4: 40,261,401 (GRCm39) |
S628P |
unknown |
Het |
Trim71 |
T |
C |
9: 114,342,110 (GRCm39) |
Y724C |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,623,199 (GRCm39) |
V15413I |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,821,227 (GRCm39) |
N72K |
probably damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,459 (GRCm39) |
M762L |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,970,198 (GRCm39) |
I203T |
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 |
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 |
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'- ACTCACTATTCCCGGTGACC -3'
(R):5'- TCTGCCATATGCTTCTCTACTGAAG -3'
Sequencing Primer
(F):5'- GGTGACCTTAATTCCCTCTCTGAG -3'
(R):5'- GCTTCTCTACTGAAGTCACATAAC -3'
|
Posted On |
2019-10-17 |