Incidental Mutation 'R7948:Gtpbp3'
ID |
615976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtpbp3
|
Ensembl Gene |
ENSMUSG00000007610 |
Gene Name |
GTP binding protein 3 |
Synonyms |
2410009F13Rik, Gtpbp3 |
MMRRC Submission |
045993-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
R7948 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
71940747-71952227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71945230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 434
(H434R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000150969]
[ENSMUST00000168847]
|
AlphaFold |
Q923K4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007754
AA Change: H434R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000007754 Gene: ENSMUSG00000007610 AA Change: H434R
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 |
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 |
probably damaging
Transcript: ENSMUST00000150969
AA Change: H434R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114193 Gene: ENSMUSG00000007610 AA Change: H434R
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: H435R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126761 Gene: ENSMUSG00000007610 AA Change: H435R
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
CGGTCTAGCTGAGCAGGAGGCAGCTCAGG |
CGG |
14: 70,394,815 (GRCm39) |
|
probably null |
Het |
Abca8a |
A |
T |
11: 109,941,805 (GRCm39) |
Y1155N |
probably benign |
Het |
Adcy8 |
C |
T |
15: 64,687,199 (GRCm39) |
R435K |
possibly damaging |
Het |
Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,707,707 (GRCm39) |
D1233G |
probably damaging |
Het |
Baz2a |
G |
A |
10: 127,961,194 (GRCm39) |
R1639H |
possibly damaging |
Het |
Ccdc125 |
A |
G |
13: 100,832,910 (GRCm39) |
T496A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,508,258 (GRCm39) |
M1257V |
probably benign |
Het |
Cpne3 |
A |
G |
4: 19,528,186 (GRCm39) |
|
probably null |
Het |
Cts3 |
T |
C |
13: 61,713,863 (GRCm39) |
E288G |
probably benign |
Het |
Deup1 |
T |
C |
9: 15,521,944 (GRCm39) |
K74E |
possibly damaging |
Het |
Epn1 |
T |
A |
7: 5,092,992 (GRCm39) |
Y101* |
probably null |
Het |
Ercc4 |
A |
G |
16: 12,948,049 (GRCm39) |
D422G |
probably benign |
Het |
Exoc6 |
A |
C |
19: 37,565,422 (GRCm39) |
N166T |
probably benign |
Het |
Fam89a |
T |
C |
8: 125,478,409 (GRCm39) |
Y47C |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,183,219 (GRCm39) |
Q1753H |
probably damaging |
Het |
Gal3st4 |
C |
T |
5: 138,269,262 (GRCm39) |
R66Q |
probably benign |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Golm1 |
C |
A |
13: 59,812,011 (GRCm39) |
|
probably null |
Het |
Hbegf |
A |
G |
18: 36,639,752 (GRCm39) |
L194S |
possibly damaging |
Het |
Igsf10 |
A |
G |
3: 59,239,279 (GRCm39) |
S301P |
probably benign |
Het |
Il9r |
A |
C |
11: 32,144,486 (GRCm39) |
C106W |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,843,994 (GRCm39) |
D389G |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,921,174 (GRCm39) |
D3373E |
possibly damaging |
Het |
Mkrn1 |
T |
A |
6: 39,377,344 (GRCm39) |
Y361F |
probably benign |
Het |
Mtrex |
C |
T |
13: 113,058,296 (GRCm39) |
R45Q |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,553,786 (GRCm39) |
I4169N |
unknown |
Het |
Myo7a |
C |
T |
7: 97,724,236 (GRCm39) |
G1150S |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,135,306 (GRCm39) |
D503G |
probably benign |
Het |
Nmnat3 |
A |
G |
9: 98,281,535 (GRCm39) |
I46V |
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nrros |
A |
T |
16: 31,981,076 (GRCm39) |
N17K |
unknown |
Het |
Or51a39 |
C |
T |
7: 102,362,895 (GRCm39) |
V242I |
probably benign |
Het |
Patj |
A |
T |
4: 98,312,547 (GRCm39) |
K295M |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,516,222 (GRCm39) |
T167A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,815,180 (GRCm39) |
L1212* |
probably null |
Het |
Peg3 |
T |
A |
7: 6,711,781 (GRCm39) |
Y1147F |
probably damaging |
Het |
Ppp2r5c |
T |
A |
12: 110,432,420 (GRCm39) |
N77K |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,393,903 (GRCm39) |
I257V |
possibly damaging |
Het |
Ptprc |
G |
A |
1: 137,992,314 (GRCm39) |
T1132I |
probably benign |
Het |
Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
Slc6a15 |
T |
A |
10: 103,240,156 (GRCm39) |
M293K |
possibly damaging |
Het |
Tmem131 |
A |
T |
1: 36,833,229 (GRCm39) |
W1749R |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,302,091 (GRCm39) |
Y1020* |
probably null |
Het |
Ttn |
G |
T |
2: 76,598,523 (GRCm39) |
Y19463* |
probably null |
Het |
Tubgcp5 |
T |
A |
7: 55,443,996 (GRCm39) |
D18E |
probably benign |
Het |
Ubtd1 |
T |
A |
19: 42,022,174 (GRCm39) |
F149I |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,349,658 (GRCm39) |
K3279R |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,642,540 (GRCm39) |
T1117A |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,071,096 (GRCm39) |
C289S |
unknown |
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 |
R7532:Gtpbp3
|
UTSW |
8 |
71,942,107 (GRCm39) |
missense |
probably benign |
0.00 |
R7657:Gtpbp3
|
UTSW |
8 |
71,943,765 (GRCm39) |
missense |
probably benign |
|
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'- CTTTGGGCTCAGACCTATCC -3'
(R):5'- CATCTTGGATCATGACCTTGTG -3'
Sequencing Primer
(F):5'- TGGGCTCAGACCTATCCCTCAG -3'
(R):5'- GATCATGACCTTGTGGGAACTCC -3'
|
Posted On |
2020-01-23 |