Incidental Mutation 'R0907:Trpt1'
| ID |
83374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpt1
|
| Ensembl Gene |
ENSMUSG00000047656 |
| Gene Name |
tRNA phosphotransferase 1 |
| Synonyms |
EST-MNCb3719, Tpt1h, TPT1 |
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6973499-6976414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6976308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 235
(G235V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040772]
[ENSMUST00000041686]
[ENSMUST00000088223]
[ENSMUST00000180765]
|
| AlphaFold |
Q8K3A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040772
|
| SMART Domains |
Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
14 |
77 |
6e-32 |
BLAST |
|
B41
|
94 |
556 |
1.66e-28 |
SMART |
|
PH
|
350 |
455 |
2.26e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041686
|
| SMART Domains |
Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088223
AA Change: G235V
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656
AA Change: G235V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTS_2-RNA
|
21 |
198 |
2.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180765
|
| SMART Domains |
Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glucose tolerance and translation of tyrosine-rich proteins. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Afmid |
T |
A |
11: 117,726,416 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
G |
A |
16: 43,735,901 (GRCm39) |
V216I |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rd3l |
G |
T |
12: 111,946,574 (GRCm39) |
Y1* |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,264,404 (GRCm39) |
T45I |
probably damaging |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,224,763 (GRCm39) |
D182G |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
probably damaging |
Het |
|
| Other mutations in Trpt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0391:Trpt1
|
UTSW |
19 |
6,975,298 (GRCm39) |
splice site |
probably null |
|
|
R1191:Trpt1
|
UTSW |
19 |
6,974,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1283:Trpt1
|
UTSW |
19 |
6,975,696 (GRCm39) |
nonsense |
probably null |
|
|
R1957:Trpt1
|
UTSW |
19 |
6,975,561 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2050:Trpt1
|
UTSW |
19 |
6,975,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Trpt1
|
UTSW |
19 |
6,975,906 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5838:Trpt1
|
UTSW |
19 |
6,975,668 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6990:Trpt1
|
UTSW |
19 |
6,975,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Trpt1
|
UTSW |
19 |
6,976,349 (GRCm39) |
nonsense |
probably null |
|
|
R9502:Trpt1
|
UTSW |
19 |
6,975,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGATTCTGACTCCAGGGAATG -3'
(R):5'- GTAGTCCCTAAGCACACGACGAATG -3'
Sequencing Primer
(F):5'- AATGCTGAAGGCTTCCTGC -3'
(R):5'- CGAATGCCAGACACGGATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation