Incidental Mutation 'R8672:Gbp11'
| ID |
661204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbp11
|
| Ensembl Gene |
ENSMUSG00000092021 |
| Gene Name |
guanylate binding protein 11 |
| Synonyms |
Gm7141 |
| MMRRC Submission |
068527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
105470908-105494338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105491675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 41
(I41F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100960]
[ENSMUST00000171587]
|
| AlphaFold |
A9YVJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100960
AA Change: I41F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: I41F
| 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 damaging
Transcript: ENSMUST00000171587
AA Change: I41F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: I41F
| 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: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Aadat |
A |
T |
8: 60,959,179 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
A |
G |
9: 107,931,375 (GRCm39) |
H266R |
possibly damaging |
Het |
| Amy2a1 |
A |
T |
3: 113,323,146 (GRCm39) |
M214K |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,874,066 (GRCm39) |
D685V |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,460 (GRCm39) |
M135K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,564 (GRCm39) |
T483A |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,950 (GRCm39) |
T134A |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,764,949 (GRCm39) |
T216I |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,079,005 (GRCm39) |
V360A |
unknown |
Het |
| Crcp |
A |
G |
5: 130,071,077 (GRCm39) |
R59G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,976,598 (GRCm39) |
E2873D |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,743,986 (GRCm39) |
M449L |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,133 (GRCm39) |
D40G |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,823 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,524 (GRCm39) |
I454V |
probably benign |
Het |
| Gkap1 |
G |
A |
13: 58,391,662 (GRCm39) |
T231I |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,069,632 (GRCm39) |
L1705P |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,850,786 (GRCm39) |
F467I |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,435,993 (GRCm39) |
E699G |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,370 (GRCm39) |
L443Q |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,276,016 (GRCm39) |
C764S |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,551,230 (GRCm39) |
I519N |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,890 (GRCm39) |
C40Y |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,768,793 (GRCm39) |
D5384G |
probably damaging |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mucl1 |
A |
G |
15: 103,784,063 (GRCm39) |
S48P |
possibly damaging |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,512,988 (GRCm39) |
S8P |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,895,093 (GRCm39) |
C1068R |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,851,579 (GRCm39) |
N404D |
probably damaging |
Het |
| Nwd1 |
C |
G |
8: 73,394,007 (GRCm39) |
H423Q |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,921 (GRCm39) |
V52M |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,596 (GRCm39) |
N63K |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,976 (GRCm39) |
M15L |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,124,529 (GRCm39) |
N547S |
probably benign |
Het |
| Pdha2 |
C |
A |
3: 140,917,124 (GRCm39) |
R128L |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,421,336 (GRCm39) |
Y181H |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,711,523 (GRCm39) |
D1233A |
possibly damaging |
Het |
| Pepd |
C |
A |
7: 34,642,107 (GRCm39) |
T146N |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,393,841 (GRCm39) |
D877E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,270,846 (GRCm39) |
M647R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,007 (GRCm39) |
S702P |
possibly damaging |
Het |
| Shb |
A |
T |
4: 45,489,161 (GRCm39) |
D238E |
probably damaging |
Het |
| Slc36a1 |
T |
A |
11: 55,123,334 (GRCm39) |
V433D |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,726 (GRCm39) |
N1761K |
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Tcerg1 |
A |
T |
18: 42,686,559 (GRCm39) |
K705N |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,943,719 (GRCm39) |
N112K |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,222,919 (GRCm39) |
I398T |
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 |
|
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'- ATTTAGCATGAGAGGGTGGC -3'
(R):5'- GATTGGTCCTAGTCGCTGAG -3'
Sequencing Primer
(F):5'- GCTTTGCTAAAAAGGAGTTCTGC -3'
(R):5'- GTCCTAGTCGCTGAGCCATTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation