Incidental Mutation 'R2048:Gtpbp6'
ID |
222197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtpbp6
|
Ensembl Gene |
ENSMUSG00000033434 |
Gene Name |
GTP binding protein 6 (putative) |
Synonyms |
pgpl, Pgbpll |
MMRRC Submission |
040055-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2048 (G1)
|
Quality Score |
201 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 110254931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 87
(V87G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086686]
[ENSMUST00000086687]
[ENSMUST00000112528]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000147631]
[ENSMUST00000140538]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077220
AA Change: V150G
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000076458 Gene: ENSMUSG00000033434 AA Change: V150G
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 |
probably damaging
Transcript: ENSMUST00000135409
AA Change: V87G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117817 Gene: ENSMUSG00000033434 AA Change: V87G
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: ENSMUST00000136722
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199496
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly damaging |
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 |
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'- TCTCCACGTTCAGGAACAC -3'
(R):5'- GCGGTTTCATCCCAGAGCTAAC -3'
Sequencing Primer
(F):5'- CACGTTCAGGAACACGGACG -3'
(R):5'- GAGCTAACCCTGTCCACCG -3'
|
Posted On |
2014-08-25 |