Incidental Mutation 'IGL03038:Gtpbp3'
| ID |
408787 |
| 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: 0.930)
|
| Stock # |
IGL03038
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71488103-71499583 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71489303 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 96
(V96I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000150969]
[ENSMUST00000168847]
[ENSMUST00000213382]
|
| AlphaFold |
Q923K4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007754
AA Change: V96I
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
AA Change: V96I
| 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 |
possibly damaging
Transcript: ENSMUST00000095259
AA Change: V96I
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
AA Change: V96I
| 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 |
possibly damaging
Transcript: ENSMUST00000127741
AA Change: V96I
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
AA Change: V96I
| 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 |
possibly damaging
Transcript: ENSMUST00000150969
AA Change: V96I
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
AA Change: V96I
| 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 |
possibly damaging
Transcript: ENSMUST00000168847
AA Change: V96I
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
AA Change: V96I
| 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 |
|
| 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 |
|---|
| Acadsb |
T |
C |
7: 131,428,456 (GRCm38) |
Y111H |
probably damaging |
Het |
| Arhgef6 |
C |
T |
X: 57,245,606 (GRCm38) |
V262I |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,065,513 (GRCm38) |
|
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,067,052 (GRCm38) |
E303G |
probably benign |
Het |
| Chst9 |
T |
C |
18: 15,495,303 (GRCm38) |
Q55R |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,741,025 (GRCm38) |
D1153E |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 24,879,619 (GRCm38) |
E681G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 142,002,494 (GRCm38) |
E66G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,724,832 (GRCm38) |
T69A |
probably benign |
Het |
| Foxl1 |
A |
C |
8: 121,128,419 (GRCm38) |
E153A |
probably damaging |
Het |
| Gstm3 |
T |
C |
3: 107,966,169 (GRCm38) |
D162G |
possibly damaging |
Het |
| Insig2 |
G |
A |
1: 121,319,674 (GRCm38) |
T56I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,772,838 (GRCm38) |
L264P |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,419,250 (GRCm38) |
C420G |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,475,464 (GRCm38) |
G2918S |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,481,492 (GRCm38) |
L568P |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 84,702,671 (GRCm38) |
P3L |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,127,967 (GRCm38) |
D1900N |
unknown |
Het |
| Mastl |
C |
A |
2: 23,140,615 (GRCm38) |
|
probably benign |
Het |
| Med24 |
T |
G |
11: 98,716,184 (GRCm38) |
T276P |
possibly damaging |
Het |
| Naip1 |
A |
C |
13: 100,437,333 (GRCm38) |
Y239* |
probably null |
Het |
| Nhsl2 |
A |
G |
X: 102,078,885 (GRCm38) |
K765E |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,823,608 (GRCm38) |
N4S |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,619,584 (GRCm38) |
D188G |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,570,921 (GRCm38) |
T89A |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,887,946 (GRCm38) |
|
probably benign |
Het |
| Pik3cb |
G |
A |
9: 99,065,597 (GRCm38) |
A509V |
probably damaging |
Het |
| Pou2f2 |
C |
T |
7: 25,097,152 (GRCm38) |
S315N |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 143,134,001 (GRCm38) |
S906R |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 83,994,951 (GRCm38) |
Q300K |
probably benign |
Het |
| Prox2 |
T |
C |
12: 85,095,264 (GRCm38) |
D55G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,668,120 (GRCm38) |
T3612S |
possibly damaging |
Het |
| S1pr1 |
T |
A |
3: 115,712,694 (GRCm38) |
I84L |
possibly damaging |
Het |
| Slc47a1 |
C |
T |
11: 61,353,092 (GRCm38) |
V384M |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,597,329 (GRCm38) |
N497S |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,538,239 (GRCm38) |
R3L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,641,971 (GRCm38) |
I538F |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,151,960 (GRCm38) |
F444S |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,646,671 (GRCm38) |
Y309N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,604,157 (GRCm38) |
L586P |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 8,974,185 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Gtpbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Gtpbp3
|
APN |
8 |
71,490,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02476:Gtpbp3
|
APN |
8 |
71,492,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02669:Gtpbp3
|
APN |
8 |
71,490,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02885:Gtpbp3
|
APN |
8 |
71,489,420 (GRCm38) |
unclassified |
probably benign |
|
|
R0267:Gtpbp3
|
UTSW |
8 |
71,491,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0442:Gtpbp3
|
UTSW |
8 |
71,491,491 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0639:Gtpbp3
|
UTSW |
8 |
71,492,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0673:Gtpbp3
|
UTSW |
8 |
71,492,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1844:Gtpbp3
|
UTSW |
8 |
71,492,628 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1957:Gtpbp3
|
UTSW |
8 |
71,490,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2996:Gtpbp3
|
UTSW |
8 |
71,489,496 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R3703:Gtpbp3
|
UTSW |
8 |
71,492,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3705:Gtpbp3
|
UTSW |
8 |
71,492,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4084:Gtpbp3
|
UTSW |
8 |
71,490,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4181:Gtpbp3
|
UTSW |
8 |
71,491,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Gtpbp3
|
UTSW |
8 |
71,491,114 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5081:Gtpbp3
|
UTSW |
8 |
71,490,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5260:Gtpbp3
|
UTSW |
8 |
71,489,418 (GRCm38) |
unclassified |
probably benign |
|
|
R5619:Gtpbp3
|
UTSW |
8 |
71,491,048 (GRCm38) |
intron |
probably benign |
|
|
R5844:Gtpbp3
|
UTSW |
8 |
71,492,555 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6666:Gtpbp3
|
UTSW |
8 |
71,490,938 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7092:Gtpbp3
|
UTSW |
8 |
71,492,265 (GRCm38) |
missense |
probably benign |
|
|
R7295:Gtpbp3
|
UTSW |
8 |
71,489,495 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7532:Gtpbp3
|
UTSW |
8 |
71,489,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7657:Gtpbp3
|
UTSW |
8 |
71,491,121 (GRCm38) |
missense |
probably benign |
|
|
R7948:Gtpbp3
|
UTSW |
8 |
71,492,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Gtpbp3
|
UTSW |
8 |
71,488,836 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8138:Gtpbp3
|
UTSW |
8 |
71,492,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8935:Gtpbp3
|
UTSW |
8 |
71,492,537 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8973:Gtpbp3
|
UTSW |
8 |
71,491,162 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9087:Gtpbp3
|
UTSW |
8 |
71,492,355 (GRCm38) |
missense |
probably benign |
0.27 |
|
X0013:Gtpbp3
|
UTSW |
8 |
71,492,693 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
X0021:Gtpbp3
|
UTSW |
8 |
71,490,517 (GRCm38) |
splice site |
probably null |
|
|
Z1177:Gtpbp3
|
UTSW |
8 |
71,489,069 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation