Incidental Mutation 'R0665:Gtpbp1'
| ID |
61995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp1
|
| Ensembl Gene |
ENSMUSG00000042535 |
| Gene Name |
GTP binding protein 1 |
| Synonyms |
GTPBP1, GP-1 |
| MMRRC Submission |
038850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0665 (G1)
|
| Quality Score |
110 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79597648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 348
(I348V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046463]
[ENSMUST00000230262]
[ENSMUST00000231095]
|
| AlphaFold |
O08582 |
| PDB Structure |
Murine Alloreactive ScFv TCR-Peptide-MHC Class I Molecule Complex [X-RAY DIFFRACTION]
Mhc Class I H-2Kb molecule complexed with pKB1 peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046463
AA Change: I348V
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: I348V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
160 |
385 |
2.7e-24 |
PFAM |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
SCOP:d1exma2
|
491 |
575 |
4e-19 |
SMART |
|
low complexity region
|
605 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted null mutation were viable and fertile with no obvious morphological or behavioral defects. In addition, no defects in macrophage function were observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,631,554 (GRCm39) |
Y304C |
probably damaging |
Het |
| B3galt2 |
T |
C |
1: 143,522,191 (GRCm39) |
V109A |
possibly damaging |
Het |
| Chml |
T |
A |
1: 175,515,461 (GRCm39) |
E153D |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,304 (GRCm39) |
C78* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,955,129 (GRCm39) |
F2053L |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Espnl |
T |
G |
1: 91,262,409 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,908,698 (GRCm39) |
A2435T |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,530 (GRCm39) |
V2027M |
probably damaging |
Het |
| Gtf2h2 |
C |
T |
13: 100,617,562 (GRCm39) |
G200E |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,406,944 (GRCm39) |
I251V |
probably benign |
Het |
| Kri1 |
G |
A |
9: 21,192,936 (GRCm39) |
|
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or12e1 |
A |
G |
2: 87,022,652 (GRCm39) |
Y207C |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w13 |
C |
T |
2: 87,524,152 (GRCm39) |
V25I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,997,330 (GRCm39) |
N287K |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,435,218 (GRCm39) |
H458R |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trpc6 |
A |
C |
9: 8,634,123 (GRCm39) |
T401P |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
|
| Other mutations in Gtpbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Gtpbp1
|
APN |
15 |
79,603,337 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01783:Gtpbp1
|
APN |
15 |
79,600,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01794:Gtpbp1
|
APN |
15 |
79,600,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Gtpbp1
|
APN |
15 |
79,603,341 (GRCm39) |
missense |
probably benign |
|
|
IGL02245:Gtpbp1
|
APN |
15 |
79,575,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02532:Gtpbp1
|
APN |
15 |
79,604,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02730:Gtpbp1
|
APN |
15 |
79,603,372 (GRCm39) |
missense |
probably benign |
|
|
IGL02796:Gtpbp1
|
UTSW |
15 |
79,601,186 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0525:Gtpbp1
|
UTSW |
15 |
79,597,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0531:Gtpbp1
|
UTSW |
15 |
79,604,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Gtpbp1
|
UTSW |
15 |
79,591,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Gtpbp1
|
UTSW |
15 |
79,603,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:Gtpbp1
|
UTSW |
15 |
79,600,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Gtpbp1
|
UTSW |
15 |
79,597,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1458:Gtpbp1
|
UTSW |
15 |
79,591,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Gtpbp1
|
UTSW |
15 |
79,592,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Gtpbp1
|
UTSW |
15 |
79,592,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Gtpbp1
|
UTSW |
15 |
79,603,222 (GRCm39) |
splice site |
probably null |
|
|
R1567:Gtpbp1
|
UTSW |
15 |
79,596,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3028:Gtpbp1
|
UTSW |
15 |
79,600,080 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4431:Gtpbp1
|
UTSW |
15 |
79,600,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Gtpbp1
|
UTSW |
15 |
79,600,152 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4854:Gtpbp1
|
UTSW |
15 |
79,603,406 (GRCm39) |
missense |
probably benign |
|
|
R4925:Gtpbp1
|
UTSW |
15 |
79,600,169 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5023:Gtpbp1
|
UTSW |
15 |
79,603,422 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5052:Gtpbp1
|
UTSW |
15 |
79,600,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Gtpbp1
|
UTSW |
15 |
79,596,375 (GRCm39) |
splice site |
probably null |
|
|
R6009:Gtpbp1
|
UTSW |
15 |
79,596,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Gtpbp1
|
UTSW |
15 |
79,591,198 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7088:Gtpbp1
|
UTSW |
15 |
79,603,483 (GRCm39) |
missense |
|
|
|
R7343:Gtpbp1
|
UTSW |
15 |
79,575,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7383:Gtpbp1
|
UTSW |
15 |
79,600,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Gtpbp1
|
UTSW |
15 |
79,603,482 (GRCm39) |
missense |
|
|
|
R8863:Gtpbp1
|
UTSW |
15 |
79,591,262 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8914:Gtpbp1
|
UTSW |
15 |
79,600,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Gtpbp1
|
UTSW |
15 |
79,601,929 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9150:Gtpbp1
|
UTSW |
15 |
79,592,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Gtpbp1
|
UTSW |
15 |
79,601,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCTGTCTTACCCTGGAAGTC -3'
(R):5'- GGCCTGAGGCCAGTAATTCAGAATG -3'
Sequencing Primer
(F):5'- CACCCTTTAAGAAACCCTGAAGC -3'
(R):5'- TGTGAGCCACATGATACCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation