Incidental Mutation 'R9232:Gbp11'
| ID |
700289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp11
|
| Ensembl Gene |
ENSMUSG00000092021 |
| Gene Name |
guanylate binding protein 11 |
| Synonyms |
Gm7141 |
| MMRRC Submission |
068986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R9232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105470908-105494338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105476290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 273
(Y273C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100960]
[ENSMUST00000171587]
|
| AlphaFold |
A9YVJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100960
AA Change: Y273C
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: Y273C
| 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 |
possibly damaging
Transcript: ENSMUST00000171587
AA Change: Y273C
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: Y273C
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
A |
T |
18: 10,652,198 (GRCm39) |
S278T |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,295 (GRCm39) |
Y511H |
probably benign |
Het |
| Atp5pd |
A |
G |
11: 115,309,221 (GRCm39) |
F38S |
probably benign |
Het |
| Cdc6 |
T |
G |
11: 98,801,201 (GRCm39) |
S151A |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,341 (GRCm39) |
M249K |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,571,793 (GRCm39) |
Q446R |
probably damaging |
Het |
| Cnnm1 |
T |
A |
19: 43,480,325 (GRCm39) |
S883T |
probably benign |
Het |
| Cntn6 |
T |
C |
6: 104,815,781 (GRCm39) |
W721R |
probably damaging |
Het |
| Defb43 |
A |
G |
14: 63,255,281 (GRCm39) |
K38R |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,463,022 (GRCm39) |
S522P |
probably benign |
Het |
| Erap1 |
T |
G |
13: 74,811,637 (GRCm39) |
S332R |
probably benign |
Het |
| Foxa3 |
C |
A |
7: 18,748,790 (GRCm39) |
R112L |
probably damaging |
Het |
| Foxf1 |
T |
A |
8: 121,811,715 (GRCm39) |
M193K |
possibly damaging |
Het |
| Gli2 |
T |
A |
1: 118,764,021 (GRCm39) |
T1377S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,808,479 (GRCm39) |
L12F |
probably damaging |
Het |
| Grm5 |
G |
A |
7: 87,723,591 (GRCm39) |
G627D |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,848 (GRCm39) |
S295P |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Iqch |
T |
A |
9: 63,329,200 (GRCm39) |
M1045L |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,411,931 (GRCm39) |
S455P |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,511 (GRCm39) |
G869E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,799,792 (GRCm39) |
N508S |
probably benign |
Het |
| Lgals8 |
C |
T |
13: 12,469,777 (GRCm39) |
V61M |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,339,343 (GRCm39) |
V392A |
possibly damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,091,296 (GRCm39) |
M524L |
probably benign |
Het |
| Mob3b |
T |
C |
4: 34,986,101 (GRCm39) |
N146D |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,567,336 (GRCm39) |
T1728A |
unknown |
Het |
| Nlgn2 |
T |
C |
11: 69,718,855 (GRCm39) |
H278R |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,705,423 (GRCm39) |
M943V |
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,263 (GRCm39) |
L169R |
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,106,015 (GRCm39) |
L183P |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,543,988 (GRCm39) |
I128V |
probably benign |
Het |
| Rabggta |
C |
T |
14: 55,956,745 (GRCm39) |
V320I |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,823,344 (GRCm39) |
V125A |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,123,216 (GRCm39) |
P1005L |
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,023,009 (GRCm39) |
I378N |
possibly damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,412,277 (GRCm39) |
V494A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,570,310 (GRCm39) |
D1394G |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,290,361 (GRCm39) |
T315A |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,085,049 (GRCm39) |
T559A |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,311,529 (GRCm39) |
I71T |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,184,962 (GRCm39) |
C96S |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Trim56 |
A |
G |
5: 137,141,632 (GRCm39) |
V628A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,529,445 (GRCm39) |
Q244R |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,240,321 (GRCm39) |
T793A |
probably benign |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,580 (GRCm39) |
I246T |
possibly damaging |
Het |
| Xpo1 |
T |
C |
11: 23,232,646 (GRCm39) |
S389P |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,347,168 (GRCm39) |
F1849S |
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 |
|
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 |
|
|
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'- ATTTGGCCAGGGAATGCATCAG -3'
Sequencing Primer
(F):5'- ATGTGGTCTCCATTTTTAAAGAAGGG -3'
(R):5'- CCAGGGAATGCATCAGACGTTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation