Incidental Mutation 'R5793:Gtpbp6'
| ID |
447067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp6
|
| Ensembl Gene |
ENSMUSG00000033434 |
| Gene Name |
GTP binding protein 6 (putative) |
| Synonyms |
pgpl, Pgbpll |
| MMRRC Submission |
043208-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5793 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110255094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 33
(L33F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117817
(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 |
probably benign
Transcript: ENSMUST00000077220
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
| 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 |
probably benign
Transcript: ENSMUST00000135409
AA Change: L33F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: L33F
| 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: ENSMUST00000138881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
| Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
| Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
| Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
| Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
| Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
| Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
| Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
| Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
| Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
| Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
probably benign |
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 |
|
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 |
|
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'- TCACGTCCTGAAAGTTGCC -3'
(R):5'- CCTAAATTTGTAGGCGGAGTCTG -3'
Sequencing Primer
(F):5'- TGAAAGTTGCCCTTGCCGAAC -3'
(R):5'- GCGAGTCCTAGAGGTTCTGC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation