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: 0.055)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105224332-105258255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105229558 bp (GRCm39)
|
| 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 |
|---|
| A730061H03Rik |
A |
T |
14: 55,797,790 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm39) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,645,028 (GRCm39) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,231 (GRCm39) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,222,436 (GRCm39) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,379,792 (GRCm39) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,414,386 (GRCm39) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,248,524 (GRCm39) |
M313K |
possibly damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,826,341 (GRCm39) |
I326F |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,080,543 (GRCm39) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 182,868,568 (GRCm39) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,364,680 (GRCm39) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,182,715 (GRCm39) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,321,657 (GRCm39) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,700,357 (GRCm39) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,752,786 (GRCm39) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 57,942,596 (GRCm39) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,011,467 (GRCm39) |
V2189A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,846,535 (GRCm39) |
N1076Y |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,214 (GRCm39) |
I934T |
probably damaging |
Het |
| Gimap5 |
G |
T |
6: 48,730,110 (GRCm39) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,651,892 (GRCm39) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,601,881 (GRCm39) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,940 (GRCm39) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,084 (GRCm39) |
V3814A |
probably benign |
Het |
| Hoatz |
A |
T |
9: 50,994,921 (GRCm39) |
I136N |
probably damaging |
Het |
| Ifna7 |
A |
G |
4: 88,734,897 (GRCm39) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,714,335 (GRCm39) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,277,646 (GRCm39) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,174 (GRCm39) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,905 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 74,980,412 (GRCm39) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,008,201 (GRCm39) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 146,961,726 (GRCm39) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,461,940 (GRCm39) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,574,241 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,076 (GRCm39) |
I228F |
possibly damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,196 (GRCm39) |
S157G |
probably benign |
Het |
| Or5c1 |
A |
G |
2: 37,221,951 (GRCm39) |
Y64C |
probably damaging |
Het |
| Or5p59 |
A |
T |
7: 107,702,671 (GRCm39) |
I52F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,424 (GRCm39) |
V297A |
possibly damaging |
Het |
| Paxx |
T |
C |
2: 25,350,328 (GRCm39) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,376,490 (GRCm39) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,223,561 (GRCm39) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,654,353 (GRCm39) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,483,788 (GRCm39) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,952,798 (GRCm39) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,172,296 (GRCm39) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,531,347 (GRCm39) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,142,487 (GRCm39) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,440,808 (GRCm39) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,801,693 (GRCm39) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,077,926 (GRCm39) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,231 (GRCm39) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 38,970,129 (GRCm39) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,973,942 (GRCm39) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,148,204 (GRCm39) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,703,311 (GRCm39) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,761 (GRCm39) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 15,875,060 (GRCm39) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,029,449 (GRCm39) |
I103V |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,831,648 (GRCm39) |
Y346* |
probably null |
Het |
| Tg |
T |
G |
15: 66,700,417 (GRCm39) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,545,616 (GRCm39) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,745,076 (GRCm39) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,711,915 (GRCm39) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,325,051 (GRCm39) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,396,240 (GRCm39) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,836 (GRCm39) |
V709A |
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 |
|
|
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'- ACACACCGAGAACTGCCTGTTG -3'
(R):5'- GAAGTATCCACTGCCACTGAAGAGC -3'
Sequencing Primer
(F):5'- GAACTGCCTGTTGCTTCCAAG -3'
(R):5'- TGAGCCATGTGCAGGCTTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation