Incidental Mutation 'IGL03330:Gtpbp6'
| ID |
416853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtpbp6
|
| Ensembl Gene |
ENSMUSG00000033434 |
| Gene Name |
GTP binding protein 6 (putative) |
| Synonyms |
pgpl, Pgbpll |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110254929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 151
(T151A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086686]
[ENSMUST00000086687]
[ENSMUST00000112528]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000140538]
[ENSMUST00000147631]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077220
AA Change: T151A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: T151A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
83 |
N/A |
INTRINSIC |
|
Pfam:GTP-bdg_N
|
107 |
198 |
9.1e-15 |
PFAM |
|
Pfam:GTP-bdg_M
|
200 |
279 |
1.9e-17 |
PFAM |
|
Pfam:MMR_HSR1
|
286 |
404 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086686
|
| SMART Domains |
Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086687
|
| SMART Domains |
Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
48 |
355 |
1e-70 |
SMART |
|
PDB:1AOD|A
|
57 |
228 |
1e-12 |
PDB |
|
Blast:PLCXc
|
70 |
228 |
8e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112528
|
| SMART Domains |
Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
200 |
222 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
555 |
577 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
583 |
605 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
611 |
633 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
667 |
689 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112534
|
| SMART Domains |
Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
1 |
111 |
2e-21 |
SMART |
|
PDB:1AOD|A
|
7 |
95 |
3e-6 |
PDB |
|
Blast:PLCXc
|
15 |
121 |
4e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127628
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135409
AA Change: T88A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: T88A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
coiled coil region
|
185 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147631
|
| SMART Domains |
Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
3.75e-28 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
| Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
| Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
| Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
| Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
| Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
| Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
| Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
Het |
|
| Other mutations in Gtpbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Gtpbp6
|
APN |
5 |
110,252,245 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0457:Gtpbp6
|
UTSW |
5 |
110,254,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Gtpbp6
|
UTSW |
5 |
110,252,155 (GRCm39) |
splice site |
probably null |
|
|
R2012:Gtpbp6
|
UTSW |
5 |
110,252,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2048:Gtpbp6
|
UTSW |
5 |
110,254,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Gtpbp6
|
UTSW |
5 |
110,255,725 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4629:Gtpbp6
|
UTSW |
5 |
110,254,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4762:Gtpbp6
|
UTSW |
5 |
110,252,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Gtpbp6
|
UTSW |
5 |
110,255,177 (GRCm39) |
unclassified |
probably benign |
|
|
R5050:Gtpbp6
|
UTSW |
5 |
110,252,567 (GRCm39) |
unclassified |
probably benign |
|
|
R5174:Gtpbp6
|
UTSW |
5 |
110,255,983 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5327:Gtpbp6
|
UTSW |
5 |
110,254,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Gtpbp6
|
UTSW |
5 |
110,254,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5685:Gtpbp6
|
UTSW |
5 |
110,252,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Gtpbp6
|
UTSW |
5 |
110,254,757 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5793:Gtpbp6
|
UTSW |
5 |
110,255,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7205:Gtpbp6
|
UTSW |
5 |
110,252,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Gtpbp6
|
UTSW |
5 |
110,251,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7623:Gtpbp6
|
UTSW |
5 |
110,252,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Gtpbp6
|
UTSW |
5 |
110,252,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Gtpbp6
|
UTSW |
5 |
110,251,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8803:Gtpbp6
|
UTSW |
5 |
110,255,186 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation