Incidental Mutation 'R4431:Gtpbp1'
| ID |
328629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp1
|
| Ensembl Gene |
ENSMUSG00000042535 |
| Gene Name |
GTP binding protein 1 |
| Synonyms |
GTPBP1, GP-1 |
| MMRRC Submission |
041146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4431 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 79600398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 444
(S444A)
|
| 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 damaging
Transcript: ENSMUST00000046463
AA Change: S444A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
AA Change: S444A
| 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 |
noncoding transcript
Transcript: ENSMUST00000230496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
| Meta Mutation Damage Score |
0.5264 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| 2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
| Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
| Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
| Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
| Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
| Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
| Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
| Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
| Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
| Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
| Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
probably damaging |
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 |
|
R0665:Gtpbp1
|
UTSW |
15 |
79,597,648 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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'- ACCTACTCTGTCCCTGTAAGTG -3'
(R):5'- CTAAGTGCTCAGGCCATAGC -3'
Sequencing Primer
(F):5'- GTCCCTGTAAGTGCCTCTGG -3'
(R):5'- TCCTCTGTGAAAACAGGGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation