Incidental Mutation 'R0760:Gtpbp1'
ID |
70061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtpbp1
|
Ensembl Gene |
ENSMUSG00000042535 |
Gene Name |
GTP binding protein 1 |
Synonyms |
GTPBP1, GP-1 |
MMRRC Submission |
038940-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0760 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79603356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 140
(G140E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000046463]
[ENSMUST00000089311]
[ENSMUST00000100439]
[ENSMUST00000231095]
|
AlphaFold |
O08582 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046259
|
SMART Domains |
Protein: ENSMUSP00000047864 Gene: ENSMUSG00000042524
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
453 |
N/A |
INTRINSIC |
coiled coil region
|
491 |
519 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
595 |
729 |
1.3e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046463
AA Change: G615E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000043575 Gene: ENSMUSG00000042535 AA Change: G615E
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: ENSMUST00000089311
|
SMART Domains |
Protein: ENSMUSP00000086724 Gene: ENSMUSG00000042524
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
coiled coil region
|
386 |
421 |
N/A |
INTRINSIC |
coiled coil region
|
459 |
487 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
563 |
697 |
1.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100439
|
SMART Domains |
Protein: ENSMUSP00000098006 Gene: ENSMUSG00000042524
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
coiled coil region
|
416 |
451 |
N/A |
INTRINSIC |
coiled coil region
|
489 |
517 |
N/A |
INTRINSIC |
Pfam:Sad1_UNC
|
593 |
727 |
1.2e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162392
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228991
AA Change: G147E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229583
AA Change: G140E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230023
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
Validation Efficiency |
95% (39/41) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly 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 |
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'- GAGCAGCTCAGACTTCATGCTACC -3'
(R):5'- TGCAGTAGGAGCCTCTAAGCAGTG -3'
Sequencing Primer
(F):5'- AGACTTCATGCTACCTACTTGG -3'
(R):5'- tgtgctatacatagtgagagcc -3'
|
Posted On |
2013-09-30 |