Incidental Mutation 'R7532:Gtpbp3'
| ID |
583371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp3
|
| Ensembl Gene |
ENSMUSG00000007610 |
| Gene Name |
GTP binding protein 3 |
| Synonyms |
2410009F13Rik, Gtpbp3 |
| MMRRC Submission |
045604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R7532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71940747-71952227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71942107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 113
(F113L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000150969]
[ENSMUST00000168847]
[ENSMUST00000213382]
|
| AlphaFold |
Q923K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007754
AA Change: F113L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: F113L
| 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
AA Change: F113L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: F113L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
4.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127741
AA Change: F113L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
AA Change: F113L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150969
AA Change: F113L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: F113L
| 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: ENSMUST00000168847
AA Change: F114L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: F114L
| 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: ENSMUST00000213382
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,220,589 (GRCm39) |
I174K |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,940,667 (GRCm39) |
I597F |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,586,796 (GRCm39) |
V813A |
probably damaging |
Het |
| Bpnt1 |
A |
T |
1: 185,084,523 (GRCm39) |
I207F |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,139 (GRCm39) |
W529R |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,226,681 (GRCm39) |
R355Q |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 62,356,915 (GRCm39) |
C784* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,193 (GRCm39) |
I994V |
unknown |
Het |
| Cst13 |
T |
G |
2: 148,665,127 (GRCm39) |
Y41D |
probably benign |
Het |
| Cyth2 |
C |
T |
7: 45,457,448 (GRCm39) |
A342T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,878,700 (GRCm39) |
L563P |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,596 (GRCm39) |
S47A |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,011 (GRCm39) |
N3183K |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,551,885 (GRCm39) |
V165M |
probably benign |
Het |
| Ephx3 |
T |
C |
17: 32,407,763 (GRCm39) |
N173S |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,756,592 (GRCm39) |
D388V |
probably benign |
Het |
| Esp34 |
T |
G |
17: 38,870,511 (GRCm39) |
V135G |
possibly damaging |
Het |
| Gfy |
G |
A |
7: 44,827,461 (GRCm39) |
P212S |
probably damaging |
Het |
| Gm5239 |
C |
T |
18: 35,669,795 (GRCm39) |
R54C |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,837,233 (GRCm39) |
D775V |
probably damaging |
Het |
| Ifrd2 |
T |
G |
9: 107,469,721 (GRCm39) |
S431R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,087,543 (GRCm39) |
A1121T |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,108,314 (GRCm39) |
F123L |
possibly damaging |
Het |
| Itgb6 |
C |
T |
2: 60,499,557 (GRCm39) |
V79I |
probably benign |
Het |
| Kcnd3 |
G |
A |
3: 105,575,526 (GRCm39) |
R550H |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,090 (GRCm39) |
S384T |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,845,794 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,560,464 (GRCm39) |
N67S |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,130,504 (GRCm39) |
S78P |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,323 (GRCm39) |
Y412H |
possibly damaging |
Het |
| Mucl2 |
A |
C |
15: 103,926,318 (GRCm39) |
I124S |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,981,921 (GRCm39) |
M806V |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,189 (GRCm39) |
L501P |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,505,097 (GRCm39) |
P748Q |
probably benign |
Het |
| Or1j13 |
C |
T |
2: 36,370,138 (GRCm39) |
M1I |
probably null |
Het |
| Or6n2 |
T |
C |
1: 173,897,664 (GRCm39) |
S267P |
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,327,127 (GRCm39) |
A354T |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,100,145 (GRCm39) |
V273L |
probably benign |
Het |
| Rad9a |
T |
C |
19: 4,251,522 (GRCm39) |
|
probably benign |
Het |
| Rnf135 |
A |
G |
11: 80,089,732 (GRCm39) |
D356G |
probably benign |
Het |
| Rragd |
G |
T |
4: 33,004,166 (GRCm39) |
A153S |
possibly damaging |
Het |
| Selenot |
G |
T |
3: 58,492,653 (GRCm39) |
V47L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,451,013 (GRCm39) |
L277P |
probably damaging |
Het |
| Sp7 |
A |
G |
15: 102,267,584 (GRCm39) |
F92S |
possibly damaging |
Het |
| Spata1 |
A |
T |
3: 146,173,946 (GRCm39) |
I380N |
possibly damaging |
Het |
| Spdye4b |
G |
T |
5: 143,180,652 (GRCm39) |
R39S |
possibly damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,621 (GRCm39) |
K57R |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,589 (GRCm39) |
R144L |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,486 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,249,565 (GRCm39) |
T998A |
probably benign |
Het |
| Vcl |
C |
A |
14: 21,079,392 (GRCm39) |
A965D |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,281 (GRCm39) |
V150D |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,189 (GRCm39) |
N303T |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,622 (GRCm39) |
M429K |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,106 (GRCm39) |
Y247F |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,239,260 (GRCm39) |
S168T |
possibly damaging |
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 |
|
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 |
|
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'- AGCACCATCTTCGCACTCAG -3'
(R):5'- TGGCAGAGTCATCTAGAAGGC -3'
Sequencing Primer
(F):5'- TTCGCACTCAGCTCCGG -3'
(R):5'- GGCCTGGGTTAATATGATACATCTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation