Incidental Mutation 'R1424:Gtpbp6'
| ID |
161215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp6
|
| Ensembl Gene |
ENSMUSG00000033434 |
| Gene Name |
GTP binding protein 6 (putative) |
| Synonyms |
pgpl, Pgbpll |
| MMRRC Submission |
039480-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1424 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
| Type of Mutation |
splice site (2410 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 110252155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112534]
[ENSMUST00000141066]
[ENSMUST00000135409]
[ENSMUST00000140538]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077220
AA Change: R459H
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: R459H
| 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 null
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: ENSMUST00000138507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
| Predicted Effect |
probably null
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 |
|
| 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
|
| Meta Mutation Damage Score |
0.2149 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
97% (57/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
| Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
| Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,496,544 (GRCm39) |
T836A |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
| Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
| Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
| Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
| Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,190,594 (GRCm39) |
N175S |
probably damaging |
Het |
| Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
| Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
| Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,787,899 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
| Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
| Taok1 |
G |
T |
11: 77,440,190 (GRCm39) |
R606S |
probably benign |
Het |
| Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
| Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,558 (GRCm39) |
V590A |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATACAAAACCAGGCCGGTGAGG -3'
(R):5'- AGCGTTGGAGGTTCACAGCAAG -3'
Sequencing Primer
(F):5'- AGTTTCCTGAACCGGCCATAG -3'
(R):5'- TTCACAGCAAGGTGGACCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation