Incidental Mutation 'IGL01534:Gtpbp2'
| ID |
89895 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtpbp2
|
| Ensembl Gene |
ENSMUSG00000023952 |
| Gene Name |
GTP binding protein 2 |
| Synonyms |
nmf205 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
IGL01534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46474430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 70
(Y70N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000166563]
[ENSMUST00000172170]
[ENSMUST00000169383]
|
| AlphaFold |
Q3UJK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024748
AA Change: Y70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: Y70N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
172 |
412 |
4.2e-27 |
PFAM |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU_D3
|
499 |
589 |
8.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166563
|
| SMART Domains |
Protein: ENSMUSP00000127896
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166663
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172170
AA Change: Y70N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: Y70N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
172 |
411 |
9.4e-27 |
PFAM |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169383
|
| SMART Domains |
Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166701
|
| SMART Domains |
Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,146 (GRCm39) |
L111P |
possibly damaging |
Het |
| Adck5 |
C |
A |
15: 76,478,926 (GRCm39) |
H383Q |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,147,830 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
A |
6: 7,675,397 (GRCm39) |
H535L |
probably benign |
Het |
| Atf5 |
A |
G |
7: 44,462,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,747,599 (GRCm39) |
Y294H |
probably damaging |
Het |
| B230307C23Rik |
A |
G |
16: 97,809,961 (GRCm39) |
|
probably benign |
Het |
| C1qtnf6 |
C |
T |
15: 78,409,416 (GRCm39) |
E144K |
probably benign |
Het |
| Casp8ap2 |
C |
T |
4: 32,648,134 (GRCm39) |
|
probably benign |
Het |
| Cd48 |
C |
A |
1: 171,523,307 (GRCm39) |
P50Q |
possibly damaging |
Het |
| Cnnm4 |
T |
C |
1: 36,538,596 (GRCm39) |
Y593H |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,144,019 (GRCm39) |
R569Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,470,744 (GRCm39) |
C549* |
probably null |
Het |
| Dsg1a |
T |
A |
18: 20,474,053 (GRCm39) |
M1042K |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,114,651 (GRCm39) |
T835S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,156,867 (GRCm39) |
T389A |
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,521,985 (GRCm39) |
E177* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,026,772 (GRCm39) |
S91T |
possibly damaging |
Het |
| Grik3 |
T |
C |
4: 125,579,983 (GRCm39) |
V576A |
probably damaging |
Het |
| Idh3a |
T |
A |
9: 54,508,506 (GRCm39) |
|
probably benign |
Het |
| Ift74 |
G |
A |
4: 94,568,181 (GRCm39) |
R406H |
probably benign |
Het |
| Kcna7 |
C |
A |
7: 45,055,935 (GRCm39) |
N50K |
probably damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,726,144 (GRCm39) |
S546P |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,303,986 (GRCm39) |
D134N |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,864,700 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
T |
C |
7: 3,288,463 (GRCm39) |
Y683C |
probably benign |
Het |
| Or14j3 |
A |
T |
17: 37,900,963 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,546 (GRCm39) |
I221F |
probably damaging |
Het |
| Or8i2 |
A |
G |
2: 86,852,228 (GRCm39) |
I220T |
probably damaging |
Het |
| Or9i1 |
A |
T |
19: 13,839,283 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,666 (GRCm39) |
H96L |
probably benign |
Het |
| P2rx7 |
A |
C |
5: 122,814,761 (GRCm39) |
I409L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,896 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
A |
T |
1: 169,572,085 (GRCm39) |
C71* |
probably null |
Het |
| Rnase10 |
T |
C |
14: 51,245,436 (GRCm39) |
F5L |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,609,888 (GRCm39) |
T987S |
probably benign |
Het |
| Shox2 |
A |
C |
3: 66,885,696 (GRCm39) |
D126E |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,059,830 (GRCm39) |
D910G |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,702,364 (GRCm39) |
C594Y |
possibly damaging |
Het |
| Spock2 |
C |
T |
10: 59,962,883 (GRCm39) |
|
probably benign |
Het |
| Togaram1 |
G |
T |
12: 65,013,321 (GRCm39) |
D191Y |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,640,660 (GRCm39) |
V172A |
probably benign |
Het |
| Tubb3 |
C |
T |
8: 124,147,705 (GRCm39) |
R213C |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,844 (GRCm39) |
V379E |
probably damaging |
Het |
| Zfp446 |
C |
T |
7: 12,713,493 (GRCm39) |
P153L |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,004 (GRCm39) |
N645K |
probably damaging |
Het |
|
| Other mutations in Gtpbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Gtpbp2
|
APN |
17 |
46,479,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Gtpbp2
|
APN |
17 |
46,475,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02864:Gtpbp2
|
APN |
17 |
46,476,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Gtpbp2
|
UTSW |
17 |
46,476,895 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1575:Gtpbp2
|
UTSW |
17 |
46,476,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Gtpbp2
|
UTSW |
17 |
46,479,518 (GRCm39) |
missense |
probably benign |
|
|
R1639:Gtpbp2
|
UTSW |
17 |
46,476,697 (GRCm39) |
splice site |
probably null |
|
|
R1786:Gtpbp2
|
UTSW |
17 |
46,472,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2132:Gtpbp2
|
UTSW |
17 |
46,472,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2133:Gtpbp2
|
UTSW |
17 |
46,472,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2223:Gtpbp2
|
UTSW |
17 |
46,478,153 (GRCm39) |
missense |
probably benign |
|
|
R3742:Gtpbp2
|
UTSW |
17 |
46,476,808 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4060:Gtpbp2
|
UTSW |
17 |
46,478,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Gtpbp2
|
UTSW |
17 |
46,478,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Gtpbp2
|
UTSW |
17 |
46,478,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4387:Gtpbp2
|
UTSW |
17 |
46,477,284 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4469:Gtpbp2
|
UTSW |
17 |
46,472,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Gtpbp2
|
UTSW |
17 |
46,472,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4664:Gtpbp2
|
UTSW |
17 |
46,472,080 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4724:Gtpbp2
|
UTSW |
17 |
46,478,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5338:Gtpbp2
|
UTSW |
17 |
46,478,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Gtpbp2
|
UTSW |
17 |
46,477,230 (GRCm39) |
splice site |
probably benign |
|
|
R5832:Gtpbp2
|
UTSW |
17 |
46,478,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6490:Gtpbp2
|
UTSW |
17 |
46,479,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6526:Gtpbp2
|
UTSW |
17 |
46,475,037 (GRCm39) |
splice site |
probably null |
|
|
R6723:Gtpbp2
|
UTSW |
17 |
46,479,202 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6860:Gtpbp2
|
UTSW |
17 |
46,478,914 (GRCm39) |
intron |
probably benign |
|
|
R7336:Gtpbp2
|
UTSW |
17 |
46,472,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7662:Gtpbp2
|
UTSW |
17 |
46,477,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7710:Gtpbp2
|
UTSW |
17 |
46,478,713 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8021:Gtpbp2
|
UTSW |
17 |
46,475,195 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8334:Gtpbp2
|
UTSW |
17 |
46,477,368 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9013:Gtpbp2
|
UTSW |
17 |
46,475,740 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9445:Gtpbp2
|
UTSW |
17 |
46,478,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9715:Gtpbp2
|
UTSW |
17 |
46,478,301 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-12-03 |
Incidental Mutation