Incidental Mutation 'R0673:Gtpbp3'
| ID |
61522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp3
|
| Ensembl Gene |
ENSMUSG00000007610 |
| Gene Name |
GTP binding protein 3 |
| Synonyms |
2410009F13Rik, Gtpbp3 |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71940747-71952227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71945379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 485
(I485F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000150969]
[ENSMUST00000168847]
|
| AlphaFold |
Q923K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007754
AA Change: I484F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: I484F
| 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: 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 damaging
Transcript: ENSMUST00000150969
AA Change: I484F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: I484F
| 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 damaging
Transcript: ENSMUST00000168847
AA Change: I485F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: I485F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Ei24 |
T |
G |
9: 36,699,551 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGATCTGCTGTCTGCTAATGCC -3'
(R):5'- GGTGATGCTGACCTTAATCCCGAC -3'
Sequencing Primer
(F):5'- AGGTCTTTTTCCAAAAGTGGC -3'
(R):5'- GGTGAGGAAGTATCCACTGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation