Incidental Mutation 'R8747:Gtpbp1'
| ID |
663625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp1
|
| Ensembl Gene |
ENSMUSG00000042535 |
| Gene Name |
GTP binding protein 1 |
| Synonyms |
GTPBP1, GP-1 |
| MMRRC Submission |
068618-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79575046-79605680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79603482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 182
(D182G)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000043575
Gene: ENSMUSG00000042535
| 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 |
probably benign
Transcript: ENSMUST00000228991
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231095
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,240 (GRCm39) |
D190G |
probably benign |
Het |
| Abhd11 |
A |
G |
5: 135,040,760 (GRCm39) |
I271V |
possibly damaging |
Het |
| Akap6 |
T |
G |
12: 53,188,999 (GRCm39) |
S2138A |
probably benign |
Het |
| Amn |
C |
A |
12: 111,241,440 (GRCm39) |
P235H |
probably damaging |
Het |
| Arf2 |
A |
T |
11: 103,859,975 (GRCm39) |
M18L |
probably benign |
Het |
| Asic2 |
A |
T |
11: 81,043,233 (GRCm39) |
F20Y |
possibly damaging |
Het |
| Bok |
T |
C |
1: 93,622,664 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
T |
A |
4: 100,860,045 (GRCm39) |
|
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,883,617 (GRCm39) |
N308S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,154 (GRCm39) |
H71Q |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,646 (GRCm39) |
I713V |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,093,354 (GRCm39) |
|
probably null |
Het |
| Cmas |
T |
C |
6: 142,716,927 (GRCm39) |
I273T |
possibly damaging |
Het |
| Ctxn3 |
A |
T |
18: 57,610,378 (GRCm39) |
D65V |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,705 (GRCm39) |
N387K |
probably benign |
Het |
| Depp1 |
T |
A |
6: 116,629,122 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,818,816 (GRCm39) |
K3174R |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,828,632 (GRCm39) |
V934I |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,603,793 (GRCm39) |
N157S |
probably damaging |
Het |
| Ets1 |
G |
A |
9: 32,641,474 (GRCm39) |
G109D |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,734,754 (GRCm39) |
R173C |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,096,035 (GRCm39) |
P525L |
probably benign |
Het |
| Gmppa |
G |
A |
1: 75,416,025 (GRCm39) |
V156I |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,254,809 (GRCm39) |
S430T |
probably benign |
Het |
| Kat7 |
G |
C |
11: 95,185,392 (GRCm39) |
C161W |
probably damaging |
Het |
| Lipk |
T |
A |
19: 33,996,184 (GRCm39) |
M32K |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,351 (GRCm39) |
D82V |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,248,944 (GRCm39) |
A7196S |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,964,782 (GRCm39) |
S926T |
probably damaging |
Het |
| Nbn |
G |
T |
4: 15,981,555 (GRCm39) |
R549I |
probably damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,400 (GRCm39) |
I117T |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,139 (GRCm39) |
T117A |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,155 (GRCm39) |
T50A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,422,275 (GRCm39) |
L778P |
probably damaging |
Het |
| Pbld2 |
G |
T |
10: 62,888,069 (GRCm39) |
V125F |
probably benign |
Het |
| Prkag2 |
A |
G |
5: 25,085,680 (GRCm39) |
|
probably null |
Het |
| Prss54 |
A |
G |
8: 96,286,351 (GRCm39) |
F241L |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,678,316 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,933,241 (GRCm39) |
V100I |
probably benign |
Het |
| Slc28a1 |
C |
T |
7: 80,774,719 (GRCm39) |
L189F |
possibly damaging |
Het |
| Slc35a3 |
T |
C |
3: 116,488,219 (GRCm39) |
Q16R |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,686,577 (GRCm39) |
F354L |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,723,539 (GRCm39) |
I447T |
probably benign |
Het |
| Tagap |
T |
A |
17: 8,147,602 (GRCm39) |
I104N |
probably damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,387,318 (GRCm39) |
D259G |
probably benign |
Het |
| Tgm3 |
T |
C |
2: 129,886,452 (GRCm39) |
S558P |
probably benign |
Het |
| Tuba3a |
A |
G |
6: 125,258,018 (GRCm39) |
V324A |
probably damaging |
Het |
| Vmn1r238 |
T |
G |
18: 3,123,232 (GRCm39) |
I61L |
possibly damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,451 (GRCm39) |
T252A |
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,492,885 (GRCm39) |
V308A |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,874,611 (GRCm39) |
V159G |
|
Het |
| Zfp180 |
A |
G |
7: 23,804,687 (GRCm39) |
T369A |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,755,316 (GRCm39) |
M1V |
probably null |
Het |
| Zmym4 |
A |
G |
4: 126,787,198 (GRCm39) |
I1031T |
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 |
|
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 |
|
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'- CCAGCAGATTAAAATGCAGTCC -3'
(R):5'- TCTTAGCTGCATTGGGCCTC -3'
Sequencing Primer
(F):5'- AGGGTCCCCTGAGCAAAC -3'
(R):5'- TGTGACCTCAGCATCATAAGAGCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation