Incidental Mutation 'IGL00801:Qtrt2'
| ID |
13716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qtrt2
|
| Ensembl Gene |
ENSMUSG00000022704 |
| Gene Name |
queuine tRNA-ribosyltransferase accessory subunit 2 |
| Synonyms |
3110012M05Rik, Qtrtd1, 4930470H18Rik, Qrtr2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43681879-43710063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43701552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 3
(K3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023387]
[ENSMUST00000134792]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023387
AA Change: K3E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023387
Gene: ENSMUSG00000022704
AA Change: K3E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGT
|
95 |
340 |
7.1e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131360
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134792
AA Change: K3E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115274
Gene: ENSMUSG00000022704
AA Change: K3E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k4ga_
|
2 |
67 |
3e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156568
|
| 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 a 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. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Qtrt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1018:Qtrt2
|
UTSW |
16 |
43,698,363 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1258:Qtrt2
|
UTSW |
16 |
43,689,446 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1499:Qtrt2
|
UTSW |
16 |
43,689,337 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1574:Qtrt2
|
UTSW |
16 |
43,692,195 (GRCm39) |
unclassified |
probably benign |
|
|
R1830:Qtrt2
|
UTSW |
16 |
43,692,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Qtrt2
|
UTSW |
16 |
43,689,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Qtrt2
|
UTSW |
16 |
43,701,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Qtrt2
|
UTSW |
16 |
43,687,788 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7449:Qtrt2
|
UTSW |
16 |
43,701,395 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7621:Qtrt2
|
UTSW |
16 |
43,689,303 (GRCm39) |
splice site |
probably null |
|
|
R8143:Qtrt2
|
UTSW |
16 |
43,692,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8530:Qtrt2
|
UTSW |
16 |
43,689,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Qtrt2
|
UTSW |
16 |
43,683,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Qtrt2
|
UTSW |
16 |
43,683,540 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2012-12-06 |
Incidental Mutation