Incidental Mutation 'R9582:Gbp10'
ID |
722592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp10
|
Ensembl Gene |
ENSMUSG00000105096 |
Gene Name |
guanylate-binding protein 10 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R9582 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
105363565-105387399 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105372256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 168
(V168A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050011]
[ENSMUST00000065588]
|
AlphaFold |
Q000W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050011
|
SMART Domains |
Protein: ENSMUSP00000062528 Gene: ENSMUSG00000079362
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
7.6e-118 |
PFAM |
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065588
AA Change: V168A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000069042 Gene: ENSMUSG00000105096 AA Change: V168A
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
5e-115 |
PFAM |
Pfam:GBP_C
|
281 |
575 |
3.6e-117 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,772,766 (GRCm39) |
F652I |
probably damaging |
Het |
Adam17 |
A |
T |
12: 21,386,665 (GRCm39) |
I457K |
probably benign |
Het |
Arpin |
T |
C |
7: 79,585,038 (GRCm39) |
|
probably benign |
Het |
Bhlhe40 |
A |
G |
6: 108,638,467 (GRCm39) |
E51G |
probably benign |
Het |
Ces1a |
C |
T |
8: 93,766,156 (GRCm39) |
D153N |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,536,200 (GRCm39) |
M547V |
probably benign |
Het |
Csrnp2 |
C |
T |
15: 100,386,067 (GRCm39) |
R57K |
possibly damaging |
Het |
Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
Ddost |
A |
T |
4: 138,035,583 (GRCm39) |
I101F |
possibly damaging |
Het |
Dyrk1b |
C |
T |
7: 27,882,028 (GRCm39) |
R130W |
probably damaging |
Het |
Ep400 |
A |
C |
5: 110,824,315 (GRCm39) |
|
probably null |
Het |
Fam227a |
A |
G |
15: 79,501,978 (GRCm39) |
V532A |
probably benign |
Het |
Flnc |
C |
A |
6: 29,460,736 (GRCm39) |
T2609K |
probably damaging |
Het |
Gp5 |
A |
G |
16: 30,127,057 (GRCm39) |
V539A |
probably benign |
Het |
H2-T13 |
T |
A |
17: 36,392,375 (GRCm39) |
R33S |
unknown |
Het |
Itih5 |
A |
G |
2: 10,195,013 (GRCm39) |
E135G |
probably benign |
Het |
L2hgdh |
A |
G |
12: 69,739,172 (GRCm39) |
V433A |
probably benign |
Het |
Leng9 |
A |
G |
7: 4,152,263 (GRCm39) |
S138P |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
Lypla1 |
C |
T |
1: 4,911,248 (GRCm39) |
P178S |
probably benign |
Het |
Mark1 |
A |
G |
1: 184,651,858 (GRCm39) |
F216L |
possibly damaging |
Het |
Mertk |
G |
A |
2: 128,624,527 (GRCm39) |
R646Q |
possibly damaging |
Het |
Mmp9 |
A |
C |
2: 164,791,235 (GRCm39) |
D135A |
probably benign |
Het |
Nefl |
A |
G |
14: 68,324,849 (GRCm39) |
K529E |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,421,917 (GRCm39) |
T988A |
probably damaging |
Het |
P4ha2 |
T |
A |
11: 54,022,065 (GRCm39) |
C529* |
probably null |
Het |
Pcdhb4 |
T |
A |
18: 37,441,417 (GRCm39) |
F242L |
probably damaging |
Het |
Pced1b |
A |
G |
15: 97,282,450 (GRCm39) |
N163S |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,169,369 (GRCm39) |
V585A |
probably damaging |
Het |
Pknox2 |
T |
A |
9: 36,804,252 (GRCm39) |
T432S |
probably damaging |
Het |
Rad18 |
A |
G |
6: 112,658,298 (GRCm39) |
|
probably null |
Het |
Rpgrip1l |
C |
T |
8: 91,996,886 (GRCm39) |
V665I |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,114,734 (GRCm39) |
I698V |
probably benign |
Het |
Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
C |
T |
11: 69,837,450 (GRCm39) |
V32M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,499 (GRCm39) |
Y318H |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,897,717 (GRCm39) |
T156A |
probably benign |
Het |
Srebf1 |
C |
A |
11: 60,097,868 (GRCm39) |
A103S |
probably benign |
Het |
Sspn |
C |
T |
6: 145,899,334 (GRCm39) |
|
probably benign |
Het |
Stoml2 |
A |
T |
4: 43,030,238 (GRCm39) |
|
probably null |
Het |
Stra6 |
T |
A |
9: 58,054,770 (GRCm39) |
V319E |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,416,780 (GRCm39) |
F414L |
probably damaging |
Het |
Tet3 |
G |
T |
6: 83,381,226 (GRCm39) |
P314Q |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,757,128 (GRCm39) |
L1313Q |
|
Het |
Topors |
A |
T |
4: 40,260,460 (GRCm39) |
D941E |
unknown |
Het |
Txnip |
T |
A |
3: 96,465,659 (GRCm39) |
C36* |
probably null |
Het |
Uba3 |
A |
T |
6: 97,168,491 (GRCm39) |
M178K |
probably damaging |
Het |
Vmn1r6 |
A |
G |
6: 56,979,925 (GRCm39) |
T196A |
probably benign |
Het |
Vwc2 |
T |
A |
11: 11,066,129 (GRCm39) |
S72R |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,210,975 (GRCm39) |
S1627P |
probably benign |
Het |
|
Other mutations in Gbp10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01470:Gbp10
|
APN |
5 |
105,368,980 (GRCm39) |
splice site |
probably benign |
|
IGL01680:Gbp10
|
APN |
5 |
105,372,137 (GRCm39) |
splice site |
probably null |
|
IGL01809:Gbp10
|
APN |
5 |
105,365,225 (GRCm39) |
missense |
probably benign |
|
IGL01845:Gbp10
|
APN |
5 |
105,367,815 (GRCm39) |
splice site |
probably null |
|
IGL02011:Gbp10
|
APN |
5 |
105,368,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02063:Gbp10
|
APN |
5 |
105,383,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02533:Gbp10
|
APN |
5 |
105,367,901 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Gbp10
|
APN |
5 |
105,366,368 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0349:Gbp10
|
UTSW |
5 |
105,368,942 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0462:Gbp10
|
UTSW |
5 |
105,366,390 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0535:Gbp10
|
UTSW |
5 |
105,368,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1223:Gbp10
|
UTSW |
5 |
105,366,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1704:Gbp10
|
UTSW |
5 |
105,372,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Gbp10
|
UTSW |
5 |
105,372,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R3738:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3739:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4035:Gbp10
|
UTSW |
5 |
105,372,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4421:Gbp10
|
UTSW |
5 |
105,372,517 (GRCm39) |
splice site |
probably null |
|
R5207:Gbp10
|
UTSW |
5 |
105,372,575 (GRCm39) |
missense |
probably benign |
0.05 |
R5338:Gbp10
|
UTSW |
5 |
105,372,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R6010:Gbp10
|
UTSW |
5 |
105,372,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6045:Gbp10
|
UTSW |
5 |
105,366,269 (GRCm39) |
missense |
probably damaging |
0.98 |
R6156:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R6285:Gbp10
|
UTSW |
5 |
105,366,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Gbp10
|
UTSW |
5 |
105,383,950 (GRCm39) |
missense |
probably benign |
0.01 |
R6908:Gbp10
|
UTSW |
5 |
105,368,898 (GRCm39) |
missense |
probably damaging |
0.97 |
R7339:Gbp10
|
UTSW |
5 |
105,367,964 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7396:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7397:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7399:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7554:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7555:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7574:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7575:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7576:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7577:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7578:Gbp10
|
UTSW |
5 |
105,384,015 (GRCm39) |
start gained |
probably benign |
|
R7975:Gbp10
|
UTSW |
5 |
105,368,967 (GRCm39) |
missense |
probably benign |
0.20 |
R8293:Gbp10
|
UTSW |
5 |
105,372,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Gbp10
|
UTSW |
5 |
105,368,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R9002:Gbp10
|
UTSW |
5 |
105,369,847 (GRCm39) |
missense |
probably benign |
0.00 |
R9086:Gbp10
|
UTSW |
5 |
105,366,369 (GRCm39) |
missense |
probably benign |
0.00 |
R9149:Gbp10
|
UTSW |
5 |
105,366,861 (GRCm39) |
missense |
probably damaging |
0.98 |
R9402:Gbp10
|
UTSW |
5 |
105,381,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTAGCAACACTTCTGCAG -3'
(R):5'- TGGGGCAAAGCAGTGTTTAG -3'
Sequencing Primer
(F):5'- TGCAGAACTCCATCCCATTGGG -3'
(R):5'- TTCCTTAGCCAAGTGCCA -3'
|
Posted On |
2022-08-09 |