Incidental Mutation 'IGL02885:Gtpbp3'
| ID |
362995 |
| 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 # |
IGL02885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71940747-71952227 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 71942064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000168847]
[ENSMUST00000150969]
[ENSMUST00000213382]
|
| AlphaFold |
Q923K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007754
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
| 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 benign
Transcript: ENSMUST00000095259
|
| SMART Domains |
Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
| 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 benign
Transcript: ENSMUST00000127741
|
| SMART Domains |
Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
| 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 benign
Transcript: ENSMUST00000168847
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
| 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 benign
Transcript: ENSMUST00000150969
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,948,152 (GRCm39) |
N683S |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,931,012 (GRCm39) |
F46I |
possibly damaging |
Het |
| Als2 |
C |
T |
1: 59,206,650 (GRCm39) |
V1598I |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,392,428 (GRCm39) |
D1986V |
probably damaging |
Het |
| Bhlhe41 |
T |
A |
6: 145,810,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Borcs6 |
A |
G |
11: 68,951,072 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,398,050 (GRCm39) |
R261L |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,198,723 (GRCm39) |
|
probably benign |
Het |
| Cenpk |
A |
G |
13: 104,385,903 (GRCm39) |
D266G |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,561,563 (GRCm39) |
V219A |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,169 (GRCm39) |
R382G |
probably damaging |
Het |
| Cplx4 |
G |
T |
18: 66,089,984 (GRCm39) |
T145N |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,079,102 (GRCm39) |
I269V |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,440,545 (GRCm39) |
Y1192C |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,923,471 (GRCm39) |
Y694H |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,877,346 (GRCm39) |
N1353K |
probably benign |
Het |
| Fam111a |
T |
A |
19: 12,561,488 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,442,204 (GRCm39) |
S1169P |
probably benign |
Het |
| Frk |
G |
T |
10: 34,360,067 (GRCm39) |
A23S |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,861,118 (GRCm39) |
V594A |
probably damaging |
Het |
| Hoxa5 |
G |
T |
6: 52,179,688 (GRCm39) |
A229D |
probably damaging |
Het |
| Ift25 |
G |
A |
4: 107,130,866 (GRCm39) |
C52Y |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,913,007 (GRCm39) |
F1780L |
possibly damaging |
Het |
| Jade2 |
A |
T |
11: 51,722,123 (GRCm39) |
D143E |
probably damaging |
Het |
| Kdm1a |
T |
C |
4: 136,279,846 (GRCm39) |
I719V |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lmx1b |
G |
T |
2: 33,457,216 (GRCm39) |
Q206K |
probably benign |
Het |
| Lrrtm4 |
G |
A |
6: 79,998,786 (GRCm39) |
G66D |
probably damaging |
Het |
| Myg1 |
G |
T |
15: 102,240,594 (GRCm39) |
G90C |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,539,407 (GRCm39) |
V2785I |
probably benign |
Het |
| Ncr1 |
C |
A |
7: 4,341,225 (GRCm39) |
P35Q |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,033,855 (GRCm39) |
C326S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,072 (GRCm39) |
F99S |
possibly damaging |
Het |
| Or3a1 |
G |
T |
11: 74,225,519 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Or52r1 |
A |
T |
7: 102,537,243 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,084,795 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,217,770 (GRCm39) |
M178V |
possibly damaging |
Het |
| Samd3 |
G |
A |
10: 26,147,762 (GRCm39) |
R479K |
probably benign |
Het |
| Semp2l2b |
T |
A |
10: 21,943,057 (GRCm39) |
I308F |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,102,782 (GRCm39) |
V226A |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,575,475 (GRCm39) |
E737G |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,121,069 (GRCm39) |
C340R |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,866,941 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,013 (GRCm39) |
V173A |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,723 (GRCm39) |
D562E |
probably benign |
Het |
| Zfp395 |
C |
T |
14: 65,633,344 (GRCm39) |
P451L |
probably benign |
Het |
|
| Other mutations in Gtpbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Gtpbp3
|
APN |
8 |
71,943,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation