Incidental Mutation 'R5773:Gtpbp6'
| ID |
445496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp6
|
| Ensembl Gene |
ENSMUSG00000033434 |
| Gene Name |
GTP binding protein 6 (putative) |
| Synonyms |
pgpl, Pgbpll |
| MMRRC Submission |
043372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110251841-110256063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110254757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 168
(E168D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077220]
[ENSMUST00000086687]
[ENSMUST00000112528]
[ENSMUST00000112534]
[ENSMUST00000135409]
[ENSMUST00000140538]
[ENSMUST00000147631]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077220
AA Change: E168D
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: E168D
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000131774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135409
AA Change: E105D
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: E105D
| 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: ENSMUST00000199496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138507
|
| 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: 95.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
| Akna |
C |
T |
4: 63,313,307 (GRCm39) |
S272N |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
| Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
| Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
| Cmtm1 |
A |
T |
8: 105,031,808 (GRCm39) |
F90I |
probably damaging |
Het |
| Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
| Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
| Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
| Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
| Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
| Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
| Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
| R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
T |
G |
10: 78,629,111 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
| Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,732,614 (GRCm39) |
M155V |
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
| Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Usp42 |
A |
T |
5: 143,699,467 (GRCm39) |
M1264K |
probably benign |
Het |
| Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
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 |
|
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 |
|
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'- GAACATGTGGGGAGCACTAC -3'
(R):5'- TGAGCGGTACCTCACCTTTG -3'
Sequencing Primer
(F):5'- TCGTGCGTGCGTTACAAC -3'
(R):5'- TCACCTTTGGCCGCTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation