Incidental Mutation 'IGL02217:Qtrt1'
| ID |
284967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qtrt1
|
| Ensembl Gene |
ENSMUSG00000002825 |
| Gene Name |
queuine tRNA-ribosyltransferase catalytic subunit 1 |
| Synonyms |
tRNA-guanine transglycosylase, Tgt, 2610028E17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
IGL02217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21323133-21331570 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 21328685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002902]
[ENSMUST00000002902]
[ENSMUST00000002902]
[ENSMUST00000002902]
[ENSMUST00000002902]
[ENSMUST00000214681]
[ENSMUST00000216527]
|
| AlphaFold |
Q9JMA2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002902
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000002902
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000002902
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000002902
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000002902
|
| SMART Domains |
Protein: ENSMUSP00000002902
Gene: ENSMUSG00000002825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
142 |
376 |
1.4e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217188
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216277
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217060
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap allele exhibit reduced phenylalanine conversion to tyrosine and reduced cell levels of queuosine-modified tRNA. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,667,757 (GRCm39) |
T405S |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
| Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
| Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,825,673 (GRCm39) |
D630G |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
| Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
| Ifi213 |
T |
G |
1: 173,422,598 (GRCm39) |
E89A |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
| Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
| Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
| Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
| Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
| Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
| Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
| Ptov1 |
C |
T |
7: 44,516,900 (GRCm39) |
G70R |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
| Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
| Srpk2 |
A |
C |
5: 23,750,568 (GRCm39) |
V45G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
| Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
probably benign |
Het |
|
| Other mutations in Qtrt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Qtrt1
|
APN |
9 |
21,330,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02048:Qtrt1
|
APN |
9 |
21,328,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Qtrt1
|
APN |
9 |
21,323,245 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0496:Qtrt1
|
UTSW |
9 |
21,330,844 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0625:Qtrt1
|
UTSW |
9 |
21,329,584 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1173:Qtrt1
|
UTSW |
9 |
21,323,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1174:Qtrt1
|
UTSW |
9 |
21,323,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1250:Qtrt1
|
UTSW |
9 |
21,330,844 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1563:Qtrt1
|
UTSW |
9 |
21,330,607 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3791:Qtrt1
|
UTSW |
9 |
21,330,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Qtrt1
|
UTSW |
9 |
21,328,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6057:Qtrt1
|
UTSW |
9 |
21,323,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Qtrt1
|
UTSW |
9 |
21,323,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Qtrt1
|
UTSW |
9 |
21,323,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Qtrt1
|
UTSW |
9 |
21,330,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Qtrt1
|
UTSW |
9 |
21,331,392 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation