Incidental Mutation 'PIT4576001:Gtpbp4'
| ID |
556387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp4
|
| Ensembl Gene |
ENSMUSG00000021149 |
| Gene Name |
GTP binding protein 4 |
| Synonyms |
Crfg, 2610028C09Rik, Nog1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
PIT4576001 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
9016367-9046119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9041763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 150
(Y150H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021574]
[ENSMUST00000222098]
|
| AlphaFold |
Q99ME9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021574
AA Change: Y93H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021574
Gene: ENSMUSG00000021149
AA Change: Y93H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FeoB_N
|
169 |
335 |
4.7e-13 |
PFAM |
|
Pfam:MMR_HSR1
|
170 |
290 |
1.7e-18 |
PFAM |
|
Pfam:NOG1
|
235 |
292 |
1.3e-29 |
PFAM |
|
Pfam:NOGCT
|
395 |
446 |
1.4e-24 |
PFAM |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222098
AA Change: Y150H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 72.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,929,983 (GRCm39) |
S73P |
probably damaging |
Het |
| 5730596B20Rik |
G |
T |
6: 52,156,449 (GRCm39) |
V172F |
unknown |
Het |
| Brms1 |
A |
G |
19: 5,096,229 (GRCm39) |
K69E |
probably damaging |
Het |
| Calr4 |
A |
C |
4: 109,093,053 (GRCm39) |
Q44H |
possibly damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,823,071 (GRCm39) |
T1242I |
probably benign |
Het |
| Dyrk3 |
A |
G |
1: 131,057,918 (GRCm39) |
V85A |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,452,974 (GRCm39) |
Y250H |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,572,093 (GRCm39) |
E749G |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,477,682 (GRCm39) |
I2243V |
probably damaging |
Het |
| Gh |
A |
T |
11: 106,191,659 (GRCm39) |
F128I |
possibly damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| H2ac15 |
C |
A |
13: 21,937,781 (GRCm39) |
D73Y |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,234,903 (GRCm39) |
S452P |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,367,114 (GRCm39) |
E2549G |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,195,380 (GRCm39) |
A41V |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,955,850 (GRCm39) |
K1201M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,224,543 (GRCm39) |
S906P |
probably damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,874 (GRCm39) |
V98A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,581,889 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pfdn2 |
A |
G |
1: 171,173,310 (GRCm39) |
S11G |
unknown |
Het |
| Prdm1 |
T |
C |
10: 44,334,504 (GRCm39) |
M1V |
probably null |
Het |
| Prelp |
A |
G |
1: 133,842,903 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prss12 |
T |
C |
3: 123,280,764 (GRCm39) |
V483A |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,656,955 (GRCm39) |
V154L |
probably damaging |
Het |
| Ptpru |
G |
A |
4: 131,529,855 (GRCm39) |
R618* |
probably null |
Het |
| Rpa1 |
A |
G |
11: 75,203,984 (GRCm39) |
S288P |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,553 (GRCm39) |
E119G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,920,081 (GRCm39) |
F817L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,910,564 (GRCm39) |
S545C |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,612,988 (GRCm39) |
V844D |
possibly damaging |
Het |
| Suclg2 |
G |
T |
6: 95,563,999 (GRCm39) |
D195E |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,539,998 (GRCm39) |
A1537D |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,027 (GRCm39) |
D73G |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Usp19 |
T |
A |
9: 108,369,931 (GRCm39) |
|
probably null |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,912 (GRCm39) |
F527L |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,533,473 (GRCm39) |
V459A |
probably benign |
Het |
|
| Other mutations in Gtpbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Gtpbp4
|
APN |
13 |
9,027,308 (GRCm39) |
missense |
probably benign |
|
|
IGL01319:Gtpbp4
|
APN |
13 |
9,035,296 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02108:Gtpbp4
|
APN |
13 |
9,035,249 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02116:Gtpbp4
|
APN |
13 |
9,042,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Gtpbp4
|
APN |
13 |
9,041,786 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Atretic
|
UTSW |
13 |
9,040,773 (GRCm39) |
nonsense |
probably null |
|
|
enervated
|
UTSW |
13 |
9,039,141 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0183:Gtpbp4
|
UTSW |
13 |
9,024,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0571:Gtpbp4
|
UTSW |
13 |
9,040,722 (GRCm39) |
splice site |
probably benign |
|
|
R1420:Gtpbp4
|
UTSW |
13 |
9,023,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1641:Gtpbp4
|
UTSW |
13 |
9,023,285 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1840:Gtpbp4
|
UTSW |
13 |
9,029,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1967:Gtpbp4
|
UTSW |
13 |
9,027,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2883:Gtpbp4
|
UTSW |
13 |
9,040,759 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3862:Gtpbp4
|
UTSW |
13 |
9,040,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4524:Gtpbp4
|
UTSW |
13 |
9,024,330 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4963:Gtpbp4
|
UTSW |
13 |
9,035,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Gtpbp4
|
UTSW |
13 |
9,039,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5555:Gtpbp4
|
UTSW |
13 |
9,029,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5749:Gtpbp4
|
UTSW |
13 |
9,045,983 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5860:Gtpbp4
|
UTSW |
13 |
9,023,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6449:Gtpbp4
|
UTSW |
13 |
9,040,773 (GRCm39) |
nonsense |
probably null |
|
|
R6616:Gtpbp4
|
UTSW |
13 |
9,039,141 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7261:Gtpbp4
|
UTSW |
13 |
9,037,954 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7829:Gtpbp4
|
UTSW |
13 |
9,035,366 (GRCm39) |
splice site |
probably null |
|
|
R7999:Gtpbp4
|
UTSW |
13 |
9,037,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Gtpbp4
|
UTSW |
13 |
9,024,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9765:Gtpbp4
|
UTSW |
13 |
9,024,994 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCCAATTACCAGCTCTAAC -3'
(R):5'- GGTGGACAAGTAAGGCATTTTC -3'
Sequencing Primer
(F):5'- ACCAGCTCTAACTCTGAAATTTCC -3'
(R):5'- GCTAAAGATTATGTGCGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation