Incidental Mutation 'R5332:Ptrh1'
ID |
423297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptrh1
|
Ensembl Gene |
ENSMUSG00000053746 |
Gene Name |
peptidyl-tRNA hydrolase 1 homolog |
Synonyms |
2210013M04Rik |
MMRRC Submission |
042914-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5332 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32665798-32667609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32666758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 109
(V109A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161958]
[ENSMUST00000161089]
[ENSMUST00000161950]
[ENSMUST00000161430]
|
AlphaFold |
Q8BW00 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066352
AA Change: V109A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000068850 Gene: ENSMUSG00000053746 AA Change: V109A
Domain | Start | End | E-Value | Type |
Pfam:Pept_tRNA_hydro
|
22 |
200 |
6.3e-39 |
PFAM |
|
Predicted Effect |
probably benign
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 benign
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: ENSMUST00000192262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138214
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161958
|
Predicted Effect |
probably benign
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 benign
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 benign
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 |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
probably benign |
Het |
|
Other mutations in Ptrh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00328:Ptrh1
|
APN |
2 |
32,666,353 (GRCm39) |
splice site |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATTGTGACAAGTGCCTGGTGAG -3'
(R):5'- TCCATTATGGCCCCTTGAGG -3'
Sequencing Primer
(F):5'- TGGTGAGCCCCAATTACTACAGTG -3'
(R):5'- AAGAGCAGTTAGTACTTTCTGAGGC -3'
|
Posted On |
2016-08-04 |