Incidental Mutation 'IGL01712:Gtpbp6'
| ID |
104825 |
| 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 # |
IGL01712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110252245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 429
(I429N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000140538]
[ENSMUST00000141066]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077220
AA Change: I429N
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: I429N
| 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000131774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135409
|
| SMART Domains |
Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
coiled coil region
|
185 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141066
|
| SMART Domains |
Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
1 |
97 |
6e-20 |
SMART |
|
PDB:1AOD|A
|
7 |
95 |
3e-6 |
PDB |
|
Blast:PLCXc
|
15 |
99 |
5e-7 |
BLAST |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
| Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,471,874 (GRCm39) |
I728V |
probably damaging |
Het |
| Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
| Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
| Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
| Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
| Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
| L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,522,063 (GRCm39) |
D32E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,908,969 (GRCm39) |
S997P |
probably damaging |
Het |
| Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
| Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
| Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,746,823 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
| Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
| Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
probably damaging |
Het |
|
| Other mutations in Gtpbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03330:Gtpbp6
|
APN |
5 |
110,254,929 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2014-01-21 |
Incidental Mutation