Incidental Mutation 'R8858:Gbp11'
ID |
711091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp11
|
Ensembl Gene |
ENSMUSG00000092021 |
Gene Name |
guanylate binding protein 11 |
Synonyms |
Gm7141 |
MMRRC Submission |
068738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R8858 (G1)
|
Quality Score |
189.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105470908-105494338 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 105473392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 454
(E454*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100960]
[ENSMUST00000171587]
|
AlphaFold |
A9YVJ5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100960
AA Change: E454*
|
SMART Domains |
Protein: ENSMUSP00000098520 Gene: ENSMUSG00000092021 AA Change: E454*
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
1.5e-122 |
PFAM |
Pfam:GBP_C
|
281 |
574 |
3.4e-114 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171587
|
SMART Domains |
Protein: ENSMUSP00000132552 Gene: ENSMUSG00000092021
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
279 |
4.9e-117 |
PFAM |
Pfam:GBP_C
|
281 |
442 |
2.7e-75 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
G |
5: 138,638,338 (GRCm39) |
Q91R |
probably benign |
Het |
Abca16 |
G |
T |
7: 120,052,327 (GRCm39) |
C465F |
probably benign |
Het |
Amfr |
A |
G |
8: 94,714,070 (GRCm39) |
Y254H |
probably damaging |
Het |
Arl6ip6 |
A |
G |
2: 53,093,018 (GRCm39) |
E181G |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,465,971 (GRCm39) |
E1066G |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,964 (GRCm39) |
V100A |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,130,270 (GRCm39) |
M54V |
probably benign |
Het |
Ciao2a |
T |
C |
9: 66,039,824 (GRCm39) |
I47T |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,120,318 (GRCm39) |
V1829A |
probably benign |
Het |
Cyp2c54 |
G |
A |
19: 40,062,227 (GRCm39) |
T10I |
probably benign |
Het |
Dennd11 |
T |
C |
6: 40,399,669 (GRCm39) |
N173S |
probably benign |
Het |
Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
Dnajc17 |
T |
C |
2: 119,011,445 (GRCm39) |
T162A |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,666,339 (GRCm39) |
E695G |
possibly damaging |
Het |
Gadl1 |
A |
T |
9: 115,835,669 (GRCm39) |
S366C |
probably damaging |
Het |
Gm32742 |
T |
A |
9: 51,062,256 (GRCm39) |
T691S |
probably benign |
Het |
Gsdma3 |
C |
A |
11: 98,520,695 (GRCm39) |
Q109K |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,548,576 (GRCm39) |
V482E |
probably damaging |
Het |
Ighv1-23 |
T |
A |
12: 114,728,083 (GRCm39) |
Y113F |
probably benign |
Het |
Lactb |
G |
T |
9: 66,863,182 (GRCm39) |
Y477* |
probably null |
Het |
Lgr6 |
T |
C |
1: 134,923,849 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
C |
2: 41,560,827 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
A |
C |
17: 12,490,759 (GRCm39) |
L224R |
probably damaging |
Het |
Mex3d |
A |
T |
10: 80,217,217 (GRCm39) |
C667S |
unknown |
Het |
Myh8 |
A |
G |
11: 67,192,820 (GRCm39) |
E1537G |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,262,965 (GRCm39) |
|
probably benign |
Het |
Nrcam |
T |
A |
12: 44,644,554 (GRCm39) |
|
probably benign |
Het |
Or2aj6 |
A |
G |
16: 19,443,109 (GRCm39) |
V247A |
probably damaging |
Het |
Or4f54 |
G |
A |
2: 111,123,503 (GRCm39) |
V297M |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,532,857 (GRCm39) |
D127E |
probably benign |
Het |
Ppp2r5c |
T |
A |
12: 110,519,329 (GRCm39) |
|
probably null |
Het |
Ptpn18 |
A |
G |
1: 34,502,196 (GRCm39) |
T71A |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,526,825 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
C |
A |
2: 146,102,285 (GRCm39) |
|
probably null |
Het |
Rnase9 |
G |
A |
14: 51,276,766 (GRCm39) |
P71S |
|
Het |
Ryr1 |
A |
G |
7: 28,808,638 (GRCm39) |
L485P |
probably benign |
Het |
Sardh |
T |
C |
2: 27,118,302 (GRCm39) |
D476G |
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,438,850 (GRCm39) |
Y170C |
probably damaging |
Het |
Spata31e4 |
T |
C |
13: 50,855,423 (GRCm39) |
S354P |
probably benign |
Het |
St8sia5 |
C |
T |
18: 77,320,511 (GRCm39) |
P88S |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,854,497 (GRCm39) |
|
probably null |
Het |
Tnfrsf13b |
A |
G |
11: 61,038,363 (GRCm39) |
I215M |
possibly damaging |
Het |
Unc13d |
G |
T |
11: 115,953,618 (GRCm39) |
L1052M |
probably damaging |
Het |
Vasn |
A |
G |
16: 4,466,833 (GRCm39) |
D260G |
probably benign |
Het |
Wdr77 |
T |
C |
3: 105,868,978 (GRCm39) |
V116A |
probably damaging |
Het |
Zfp560 |
A |
G |
9: 20,260,403 (GRCm39) |
I153T |
probably benign |
Het |
Zfp672 |
G |
A |
11: 58,208,145 (GRCm39) |
R59C |
possibly damaging |
Het |
|
Other mutations in Gbp11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01329:Gbp11
|
APN |
5 |
105,475,482 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01347:Gbp11
|
APN |
5 |
105,479,194 (GRCm39) |
splice site |
probably benign |
|
IGL01762:Gbp11
|
APN |
5 |
105,475,473 (GRCm39) |
missense |
probably benign |
|
IGL02157:Gbp11
|
APN |
5 |
105,475,374 (GRCm39) |
missense |
possibly damaging |
0.95 |
Quilt
|
UTSW |
5 |
105,473,374 (GRCm39) |
missense |
probably damaging |
1.00 |
Tilted
|
UTSW |
5 |
105,478,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R0550:Gbp11
|
UTSW |
5 |
105,491,616 (GRCm39) |
missense |
probably benign |
0.28 |
R0647:Gbp11
|
UTSW |
5 |
105,478,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1530:Gbp11
|
UTSW |
5 |
105,475,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R1612:Gbp11
|
UTSW |
5 |
105,474,462 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1677:Gbp11
|
UTSW |
5 |
105,475,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:Gbp11
|
UTSW |
5 |
105,474,510 (GRCm39) |
missense |
probably benign |
0.02 |
R2063:Gbp11
|
UTSW |
5 |
105,476,450 (GRCm39) |
nonsense |
probably null |
|
R2869:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
R2869:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
R2870:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
R2870:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
R2873:Gbp11
|
UTSW |
5 |
105,478,866 (GRCm39) |
missense |
probably benign |
0.00 |
R3915:Gbp11
|
UTSW |
5 |
105,478,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4854:Gbp11
|
UTSW |
5 |
105,473,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R5140:Gbp11
|
UTSW |
5 |
105,478,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Gbp11
|
UTSW |
5 |
105,478,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Gbp11
|
UTSW |
5 |
105,479,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6336:Gbp11
|
UTSW |
5 |
105,473,355 (GRCm39) |
|
|
|
R6351:Gbp11
|
UTSW |
5 |
105,475,464 (GRCm39) |
missense |
probably benign |
0.07 |
R6956:Gbp11
|
UTSW |
5 |
105,476,241 (GRCm39) |
critical splice donor site |
probably null |
|
R7371:Gbp11
|
UTSW |
5 |
105,489,971 (GRCm39) |
missense |
probably benign |
0.06 |
R7393:Gbp11
|
UTSW |
5 |
105,475,443 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7410:Gbp11
|
UTSW |
5 |
105,491,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Gbp11
|
UTSW |
5 |
105,478,816 (GRCm39) |
critical splice donor site |
probably null |
|
R7898:Gbp11
|
UTSW |
5 |
105,472,798 (GRCm39) |
missense |
probably benign |
0.00 |
R8465:Gbp11
|
UTSW |
5 |
105,472,928 (GRCm39) |
missense |
probably benign |
0.00 |
R8467:Gbp11
|
UTSW |
5 |
105,475,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8672:Gbp11
|
UTSW |
5 |
105,491,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8960:Gbp11
|
UTSW |
5 |
105,479,251 (GRCm39) |
missense |
probably damaging |
0.98 |
R9097:Gbp11
|
UTSW |
5 |
105,474,347 (GRCm39) |
makesense |
probably null |
|
R9232:Gbp11
|
UTSW |
5 |
105,476,290 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9380:Gbp11
|
UTSW |
5 |
105,475,202 (GRCm39) |
missense |
probably benign |
0.00 |
R9400:Gbp11
|
UTSW |
5 |
105,478,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9438:Gbp11
|
UTSW |
5 |
105,474,471 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACCATGCCCATGTGACTG -3'
(R):5'- AGCCACAGGTCAGGAAGTATC -3'
Sequencing Primer
(F):5'- TTCCAGGGTGGGCATCC -3'
(R):5'- GGAAGTATCCAGGGCCACTG -3'
|
Posted On |
2022-04-20 |