Incidental Mutation 'IGL00328:Ptrh1'
| ID |
7234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptrh1
|
| Ensembl Gene |
ENSMUSG00000053746 |
| Gene Name |
peptidyl-tRNA hydrolase 1 homolog |
| Synonyms |
2210013M04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL00328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32665798-32667609 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 32666353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161958]
[ENSMUST00000161950]
[ENSMUST00000161430]
|
| AlphaFold |
Q8BW00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066352
AA Change: R35L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746
AA Change: R35L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pept_tRNA_hydro
|
22 |
200 |
6.3e-39 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066478
|
| SMART Domains |
Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000091059
|
| SMART Domains |
Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102813
|
| SMART Domains |
Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
301 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192262
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161089
|
| SMART Domains |
Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161958
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161950
|
| SMART Domains |
Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161430
|
| SMART Domains |
Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
807 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,809 (GRCm39) |
V378I |
possibly damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,316 (GRCm39) |
|
probably benign |
Het |
| Bap1 |
T |
G |
14: 30,975,526 (GRCm39) |
S123R |
probably damaging |
Het |
| Cers2 |
A |
T |
3: 95,227,997 (GRCm39) |
K73I |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,635 (GRCm39) |
V240A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,215,378 (GRCm39) |
I419T |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,043,976 (GRCm39) |
R540G |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,424 (GRCm39) |
S2203R |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,393 (GRCm39) |
E67G |
probably damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,807 (GRCm39) |
L242Q |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,344 (GRCm39) |
L165P |
probably benign |
Het |
|
| Other mutations in Ptrh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02123:Ptrh1
|
APN |
2 |
32,666,826 (GRCm39) |
unclassified |
probably benign |
|
|
R2155:Ptrh1
|
UTSW |
2 |
32,667,040 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2484:Ptrh1
|
UTSW |
2 |
32,667,183 (GRCm39) |
missense |
probably benign |
|
|
R4948:Ptrh1
|
UTSW |
2 |
32,666,557 (GRCm39) |
unclassified |
probably benign |
|
|
R5332:Ptrh1
|
UTSW |
2 |
32,666,758 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5449:Ptrh1
|
UTSW |
2 |
32,666,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Ptrh1
|
UTSW |
2 |
32,666,757 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9727:Ptrh1
|
UTSW |
2 |
32,665,854 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation