Incidental Mutation 'R6956:Gbp11'
ID |
541453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gbp11
|
Ensembl Gene |
ENSMUSG00000092021 |
Gene Name |
guanylate binding protein 11 |
Synonyms |
Gm7141 |
MMRRC Submission |
045067-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R6956 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105470908-105494338 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 105476241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100960]
[ENSMUST00000171587]
[ENSMUST00000171587]
|
AlphaFold |
A9YVJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100960
|
SMART Domains |
Protein: ENSMUSP00000098520 Gene: ENSMUSG00000092021
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,781,762 (GRCm39) |
V945M |
probably benign |
Het |
Amotl2 |
A |
G |
9: 102,601,967 (GRCm39) |
T371A |
probably damaging |
Het |
Bmpr1a |
A |
G |
14: 34,163,132 (GRCm39) |
I86T |
possibly damaging |
Het |
C9 |
A |
T |
15: 6,474,945 (GRCm39) |
M35L |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,862,528 (GRCm39) |
P661T |
probably damaging |
Het |
Ccdc202 |
T |
A |
14: 96,119,869 (GRCm39) |
W209R |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,303,349 (GRCm39) |
S293R |
probably benign |
Het |
Dchs2 |
T |
A |
3: 83,261,233 (GRCm39) |
N2500K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,697,282 (GRCm39) |
S92P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,616,446 (GRCm39) |
I1172F |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,471,470 (GRCm39) |
S364G |
probably damaging |
Het |
Dpp6 |
A |
T |
5: 27,803,819 (GRCm39) |
N255I |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,252,748 (GRCm39) |
I440T |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,688,099 (GRCm39) |
T937A |
probably damaging |
Het |
Fam229b |
T |
A |
10: 39,009,843 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
H2-T3 |
T |
A |
17: 36,500,263 (GRCm39) |
Y144F |
probably damaging |
Het |
Kel |
T |
G |
6: 41,664,907 (GRCm39) |
D7A |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,994,668 (GRCm39) |
V166A |
probably benign |
Het |
Mapt |
T |
C |
11: 104,209,081 (GRCm39) |
|
probably null |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,422,059 (GRCm39) |
V396A |
possibly damaging |
Het |
Mphosph9 |
T |
C |
5: 124,435,621 (GRCm39) |
D604G |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,556,322 (GRCm39) |
T3324A |
unknown |
Het |
Nalf1 |
T |
A |
8: 9,820,744 (GRCm39) |
Q92L |
probably benign |
Het |
Nat10 |
T |
C |
2: 103,564,757 (GRCm39) |
I495V |
probably benign |
Het |
Or6c208 |
A |
T |
10: 129,224,166 (GRCm39) |
K221N |
probably benign |
Het |
Pfkfb2 |
T |
C |
1: 130,635,337 (GRCm39) |
N75D |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 92,012,941 (GRCm39) |
|
probably null |
Het |
Scube1 |
T |
C |
15: 83,606,077 (GRCm39) |
Y65C |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
Socs7 |
T |
C |
11: 97,267,849 (GRCm39) |
S327P |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,685,021 (GRCm39) |
D591E |
probably damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,748 (GRCm39) |
D4V |
possibly damaging |
Het |
Tdpoz8 |
T |
C |
3: 92,981,279 (GRCm39) |
V25A |
possibly damaging |
Het |
Tdrd9 |
A |
G |
12: 112,002,788 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
G |
T |
9: 122,893,768 (GRCm39) |
M155I |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,036,183 (GRCm39) |
V891A |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,819,243 (GRCm39) |
E235G |
probably damaging |
Het |
Usp2 |
T |
A |
9: 44,004,053 (GRCm39) |
V533E |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,837,550 (GRCm39) |
I2665F |
probably damaging |
Het |
Vmn2r31 |
G |
A |
7: 7,397,505 (GRCm39) |
S251L |
probably benign |
Het |
Vmn2r84 |
C |
A |
10: 130,225,136 (GRCm39) |
C458F |
probably 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 |
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 |
R8858:Gbp11
|
UTSW |
5 |
105,473,392 (GRCm39) |
nonsense |
probably null |
|
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'- GCTGTAAATACTAATGATGTGGTCTCC -3'
(R):5'- GCATCAGACGTTTCTTTCCAAATCG -3'
Sequencing Primer
(F):5'- ATGTGGTCTCCATTTTTAAAGAAGGG -3'
(R):5'- TCCAAATCGGAAGTGTTTTGTC -3'
|
Posted On |
2018-11-28 |