Incidental Mutation 'IGL01525:Gtpbp3'
| ID |
89533 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtpbp3
|
| Ensembl Gene |
ENSMUSG00000007610 |
| Gene Name |
GTP binding protein 3 |
| Synonyms |
2410009F13Rik, Gtpbp3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
IGL01525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71940747-71952227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71943078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 164
(D164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000168847]
[ENSMUST00000150969]
[ENSMUST00000213382]
|
| AlphaFold |
Q923K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007754
AA Change: D163G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: D163G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
1.8e-36 |
PFAM |
|
Pfam:FeoB_N
|
250 |
390 |
3.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
251 |
375 |
1.6e-18 |
PFAM |
|
Pfam:GTPase_Cys_C
|
421 |
489 |
9.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093450
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
Pfam:Anoctamin
|
237 |
874 |
3e-149 |
PFAM |
|
coiled coil region
|
881 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1056 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095259
AA Change: D163G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: D163G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
4.1e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124349
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127741
AA Change: D163G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
AA Change: D163G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168847
AA Change: D164G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: D164G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
153 |
3e-35 |
PFAM |
|
Pfam:MnmE_helical
|
156 |
490 |
2e-48 |
PFAM |
|
Pfam:FeoB_N
|
251 |
390 |
1.5e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
252 |
376 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150969
AA Change: D163G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: D163G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
1.8e-36 |
PFAM |
|
Pfam:FeoB_N
|
250 |
390 |
3.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
251 |
375 |
1.6e-18 |
PFAM |
|
Pfam:GTPase_Cys_C
|
421 |
489 |
9.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213382
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,267,472 (GRCm39) |
I286F |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
| Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,101,808 (GRCm39) |
D158G |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
| Ift70b |
A |
T |
2: 75,767,226 (GRCm39) |
M509K |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,525,522 (GRCm39) |
Q106L |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
| Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
| Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
| Thumpd3 |
T |
C |
6: 113,024,597 (GRCm39) |
S64P |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
| Other mutations in Gtpbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02476:Gtpbp3
|
APN |
8 |
71,945,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02669:Gtpbp3
|
APN |
8 |
71,943,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Gtpbp3
|
APN |
8 |
71,942,064 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03038:Gtpbp3
|
APN |
8 |
71,941,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0267:Gtpbp3
|
UTSW |
8 |
71,944,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:Gtpbp3
|
UTSW |
8 |
71,944,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0639:Gtpbp3
|
UTSW |
8 |
71,945,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0673:Gtpbp3
|
UTSW |
8 |
71,945,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Gtpbp3
|
UTSW |
8 |
71,945,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1957:Gtpbp3
|
UTSW |
8 |
71,943,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2996:Gtpbp3
|
UTSW |
8 |
71,942,140 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3703:Gtpbp3
|
UTSW |
8 |
71,944,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3705:Gtpbp3
|
UTSW |
8 |
71,944,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Gtpbp3
|
UTSW |
8 |
71,943,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4181:Gtpbp3
|
UTSW |
8 |
71,944,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Gtpbp3
|
UTSW |
8 |
71,943,758 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5081:Gtpbp3
|
UTSW |
8 |
71,943,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Gtpbp3
|
UTSW |
8 |
71,942,062 (GRCm39) |
unclassified |
probably benign |
|
|
R5619:Gtpbp3
|
UTSW |
8 |
71,943,692 (GRCm39) |
intron |
probably benign |
|
|
R5844:Gtpbp3
|
UTSW |
8 |
71,945,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6666:Gtpbp3
|
UTSW |
8 |
71,943,582 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7092:Gtpbp3
|
UTSW |
8 |
71,944,909 (GRCm39) |
missense |
probably benign |
|
|
R7295:Gtpbp3
|
UTSW |
8 |
71,942,139 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7532:Gtpbp3
|
UTSW |
8 |
71,942,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Gtpbp3
|
UTSW |
8 |
71,943,765 (GRCm39) |
missense |
probably benign |
|
|
R7948:Gtpbp3
|
UTSW |
8 |
71,945,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Gtpbp3
|
UTSW |
8 |
71,941,480 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8138:Gtpbp3
|
UTSW |
8 |
71,945,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Gtpbp3
|
UTSW |
8 |
71,945,181 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8973:Gtpbp3
|
UTSW |
8 |
71,943,806 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9087:Gtpbp3
|
UTSW |
8 |
71,944,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
X0013:Gtpbp3
|
UTSW |
8 |
71,945,337 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0021:Gtpbp3
|
UTSW |
8 |
71,943,161 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Gtpbp3
|
UTSW |
8 |
71,941,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation