Incidental Mutation 'R1704:Gbp10'
| ID |
189959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp10
|
| Ensembl Gene |
ENSMUSG00000105096 |
| Gene Name |
guanylate-binding protein 10 |
| Synonyms |
|
| MMRRC Submission |
039737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1704 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105363565-105387399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105372217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 181
(F181S)
|
| 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 damaging
Transcript: ENSMUST00000065588
AA Change: F181S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069042
Gene: ENSMUSG00000105096
AA Change: F181S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
5e-115 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
3.6e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196634
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,146,164 (GRCm39) |
H511Y |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,344,524 (GRCm39) |
A341T |
probably benign |
Het |
| Apon |
T |
C |
10: 128,090,865 (GRCm39) |
F181S |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,537,242 (GRCm39) |
L342Q |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,107 (GRCm39) |
H1810Q |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,159,681 (GRCm39) |
Y1593C |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,989,327 (GRCm39) |
S1825T |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,484,155 (GRCm39) |
W403R |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,571,493 (GRCm39) |
E279G |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,116,362 (GRCm39) |
P1753S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,604,646 (GRCm39) |
Y1038H |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,478,613 (GRCm39) |
T2553I |
probably damaging |
Het |
| Fem1c |
A |
T |
18: 46,639,263 (GRCm39) |
N246K |
probably benign |
Het |
| Frmd8 |
T |
A |
19: 5,919,510 (GRCm39) |
Q179L |
probably benign |
Het |
| Hfe |
T |
C |
13: 23,888,391 (GRCm39) |
Y265C |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,656,765 (GRCm39) |
N362D |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,717,617 (GRCm39) |
F130L |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,757,743 (GRCm39) |
V242E |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,354,127 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
C |
G |
1: 170,165,781 (GRCm39) |
E161Q |
probably damaging |
Het |
| Or1q1 |
A |
T |
2: 36,886,896 (GRCm39) |
I25F |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,580 (GRCm39) |
M197K |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,661,576 (GRCm39) |
V611I |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,919,376 (GRCm39) |
I300V |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,407 (GRCm39) |
D849G |
possibly damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Prr14l |
G |
T |
5: 32,987,626 (GRCm39) |
A623D |
probably benign |
Het |
| Rab43 |
A |
C |
6: 87,788,363 (GRCm39) |
|
probably null |
Het |
| Sart3 |
G |
A |
5: 113,884,068 (GRCm39) |
T648M |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,460 (GRCm39) |
D1803G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,848 (GRCm39) |
S30T |
possibly damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,557,513 (GRCm39) |
G309E |
probably damaging |
Het |
| Snx14 |
A |
C |
9: 88,295,591 (GRCm39) |
D191E |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,076,183 (GRCm39) |
N777K |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,681,678 (GRCm39) |
N173S |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgfbrap1 |
G |
T |
1: 43,093,816 (GRCm39) |
Q559K |
probably benign |
Het |
| Tmco1 |
T |
C |
1: 167,153,506 (GRCm39) |
S129P |
possibly damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,561 (GRCm39) |
T97A |
probably benign |
Het |
| Tnni3k |
G |
A |
3: 154,533,145 (GRCm39) |
A774V |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,470,785 (GRCm39) |
S925P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,553,993 (GRCm39) |
V3494A |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,266 (GRCm39) |
D461G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,432,264 (GRCm39) |
C2344* |
probably null |
Het |
| Zfp629 |
A |
G |
7: 127,210,036 (GRCm39) |
I591T |
probably benign |
Het |
| Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
| Zmym1 |
A |
T |
4: 126,942,177 (GRCm39) |
I737N |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 128,019,740 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
R9582:Gbp10
|
UTSW |
5 |
105,372,256 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATTGGGAAGACTCCACCAAG -3'
(R):5'- ATGAATATGAACTCACTGCCCTGCC -3'
Sequencing Primer
(F):5'- CTCCACCAAGGATGGGAGG -3'
(R):5'- TGGGGCAAAGCAGTGTTTAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation