Incidental Mutation 'R2305:Pus1'
ID |
244553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus1
|
Ensembl Gene |
ENSMUSG00000029507 |
Gene Name |
pseudouridine synthase 1 |
Synonyms |
A730013B20Rik, mPus1p, MPUS1 |
MMRRC Submission |
040304-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.287)
|
Stock # |
R2305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
110921533-110928523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110922826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 232
(M232I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031481]
[ENSMUST00000031483]
[ENSMUST00000041558]
[ENSMUST00000086643]
[ENSMUST00000112426]
[ENSMUST00000112433]
[ENSMUST00000170468]
[ENSMUST00000136483]
[ENSMUST00000112435]
[ENSMUST00000112436]
[ENSMUST00000146458]
[ENSMUST00000149208]
|
AlphaFold |
Q9WU56 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031481
AA Change: M232I
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031481 Gene: ENSMUSG00000029507 AA Change: M232I
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
54 |
161 |
4.7e-13 |
PFAM |
Pfam:PseudoU_synth_1
|
201 |
307 |
2.9e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031483
AA Change: M262I
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031483 Gene: ENSMUSG00000029507 AA Change: M262I
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
84 |
191 |
1.3e-11 |
PFAM |
Pfam:PseudoU_synth_1
|
231 |
337 |
8.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041558
|
SMART Domains |
Protein: ENSMUSP00000049038 Gene: ENSMUSG00000029505
Domain | Start | End | E-Value | Type |
Pfam:EP400_N
|
1 |
461 |
1.6e-232 |
PFAM |
low complexity region
|
519 |
532 |
N/A |
INTRINSIC |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
low complexity region
|
598 |
620 |
N/A |
INTRINSIC |
low complexity region
|
631 |
645 |
N/A |
INTRINSIC |
low complexity region
|
658 |
686 |
N/A |
INTRINSIC |
HSA
|
762 |
833 |
1.31e-31 |
SMART |
low complexity region
|
908 |
925 |
N/A |
INTRINSIC |
DEXDc
|
1049 |
1238 |
2.76e-15 |
SMART |
Blast:DEXDc
|
1276 |
1317 |
2e-15 |
BLAST |
low complexity region
|
1407 |
1417 |
N/A |
INTRINSIC |
HELICc
|
1807 |
1893 |
1.17e-4 |
SMART |
low complexity region
|
2006 |
2019 |
N/A |
INTRINSIC |
low complexity region
|
2080 |
2100 |
N/A |
INTRINSIC |
low complexity region
|
2214 |
2223 |
N/A |
INTRINSIC |
SANT
|
2243 |
2310 |
3.57e-1 |
SMART |
low complexity region
|
2402 |
2489 |
N/A |
INTRINSIC |
low complexity region
|
2596 |
2608 |
N/A |
INTRINSIC |
low complexity region
|
2644 |
2679 |
N/A |
INTRINSIC |
low complexity region
|
2694 |
2738 |
N/A |
INTRINSIC |
low complexity region
|
2769 |
2806 |
N/A |
INTRINSIC |
low complexity region
|
2846 |
2883 |
N/A |
INTRINSIC |
low complexity region
|
2933 |
2947 |
N/A |
INTRINSIC |
low complexity region
|
2974 |
2986 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086643
AA Change: M280I
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083844 Gene: ENSMUSG00000029507 AA Change: M280I
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
84 |
208 |
1.2e-7 |
PFAM |
Pfam:PseudoU_synth_1
|
249 |
355 |
8.5e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112426
AA Change: M186I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108045 Gene: ENSMUSG00000029507 AA Change: M186I
Domain | Start | End | E-Value | Type |
SCOP:d1dj0a1
|
48 |
116 |
1e-12 |
SMART |
Pfam:PseudoU_synth_1
|
155 |
261 |
5.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112433
|
SMART Domains |
Protein: ENSMUSP00000108052 Gene: ENSMUSG00000029505
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
447 |
N/A |
INTRINSIC |
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
low complexity region
|
635 |
657 |
N/A |
INTRINSIC |
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170468
AA Change: M232I
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000130814 Gene: ENSMUSG00000029507 AA Change: M232I
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
54 |
161 |
4.7e-13 |
PFAM |
Pfam:PseudoU_synth_1
|
201 |
307 |
2.9e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132267
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136483
|
SMART Domains |
Protein: ENSMUSP00000115143 Gene: ENSMUSG00000029507
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
54 |
147 |
2e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112435
|
SMART Domains |
Protein: ENSMUSP00000108054 Gene: ENSMUSG00000029505
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
447 |
N/A |
INTRINSIC |
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
low complexity region
|
635 |
657 |
N/A |
INTRINSIC |
low complexity region
|
668 |
682 |
N/A |
INTRINSIC |
low complexity region
|
695 |
723 |
N/A |
INTRINSIC |
HSA
|
799 |
870 |
1.31e-31 |
SMART |
low complexity region
|
945 |
962 |
N/A |
INTRINSIC |
DEXDc
|
1086 |
1275 |
2.76e-15 |
SMART |
Blast:DEXDc
|
1313 |
1354 |
2e-15 |
BLAST |
low complexity region
|
1444 |
1454 |
N/A |
INTRINSIC |
internal_repeat_1
|
1556 |
1646 |
6.82e-5 |
PROSPERO |
low complexity region
|
1887 |
1900 |
N/A |
INTRINSIC |
low complexity region
|
1961 |
1981 |
N/A |
INTRINSIC |
low complexity region
|
2095 |
2104 |
N/A |
INTRINSIC |
SANT
|
2124 |
2191 |
3.57e-1 |
SMART |
low complexity region
|
2283 |
2370 |
N/A |
INTRINSIC |
internal_repeat_1
|
2371 |
2463 |
6.82e-5 |
PROSPERO |
low complexity region
|
2477 |
2489 |
N/A |
INTRINSIC |
low complexity region
|
2525 |
2560 |
N/A |
INTRINSIC |
low complexity region
|
2575 |
2619 |
N/A |
INTRINSIC |
low complexity region
|
2645 |
2659 |
N/A |
INTRINSIC |
low complexity region
|
2660 |
2680 |
N/A |
INTRINSIC |
low complexity region
|
2720 |
2757 |
N/A |
INTRINSIC |
low complexity region
|
2807 |
2821 |
N/A |
INTRINSIC |
low complexity region
|
2848 |
2860 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112436
|
SMART Domains |
Protein: ENSMUSP00000108055 Gene: ENSMUSG00000029505
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
low complexity region
|
472 |
482 |
N/A |
INTRINSIC |
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
low complexity region
|
595 |
609 |
N/A |
INTRINSIC |
low complexity region
|
622 |
650 |
N/A |
INTRINSIC |
HSA
|
726 |
797 |
1.31e-31 |
SMART |
low complexity region
|
872 |
889 |
N/A |
INTRINSIC |
DEXDc
|
1013 |
1202 |
2.76e-15 |
SMART |
Blast:DEXDc
|
1240 |
1281 |
2e-15 |
BLAST |
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
internal_repeat_1
|
1483 |
1573 |
6.76e-5 |
PROSPERO |
HELICc
|
1771 |
1857 |
1.17e-4 |
SMART |
low complexity region
|
1970 |
1983 |
N/A |
INTRINSIC |
low complexity region
|
2044 |
2064 |
N/A |
INTRINSIC |
low complexity region
|
2178 |
2187 |
N/A |
INTRINSIC |
SANT
|
2207 |
2274 |
3.57e-1 |
SMART |
low complexity region
|
2366 |
2453 |
N/A |
INTRINSIC |
internal_repeat_1
|
2454 |
2546 |
6.76e-5 |
PROSPERO |
low complexity region
|
2560 |
2572 |
N/A |
INTRINSIC |
low complexity region
|
2608 |
2643 |
N/A |
INTRINSIC |
low complexity region
|
2658 |
2702 |
N/A |
INTRINSIC |
low complexity region
|
2733 |
2770 |
N/A |
INTRINSIC |
low complexity region
|
2810 |
2847 |
N/A |
INTRINSIC |
low complexity region
|
2897 |
2911 |
N/A |
INTRINSIC |
low complexity region
|
2938 |
2950 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146458
|
SMART Domains |
Protein: ENSMUSP00000138369 Gene: ENSMUSG00000029505
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
low complexity region
|
519 |
532 |
N/A |
INTRINSIC |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
low complexity region
|
598 |
620 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149208
|
SMART Domains |
Protein: ENSMUSP00000115468 Gene: ENSMUSG00000029507
Domain | Start | End | E-Value | Type |
PDB:4J37|A
|
37 |
162 |
3e-57 |
PDB |
SCOP:d1dj0a1
|
48 |
162 |
3e-17 |
SMART |
|
Meta Mutation Damage Score |
0.0843 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, impaired exercise endurance, and alterations in muscle metabolism related to mitochondrial content and oxidative capacity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
C |
A |
2: 58,171,711 (GRCm39) |
D295Y |
probably damaging |
Het |
Adamts7 |
A |
G |
9: 90,062,764 (GRCm39) |
D406G |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,775,979 (GRCm39) |
S1443P |
possibly damaging |
Het |
Casp8ap2 |
A |
T |
4: 32,646,411 (GRCm39) |
K1828I |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,743,236 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
Defb21 |
T |
A |
2: 152,416,791 (GRCm39) |
L89Q |
possibly damaging |
Het |
Dnah5 |
A |
T |
15: 28,387,913 (GRCm39) |
E3124V |
probably benign |
Het |
Efcab7 |
A |
G |
4: 99,719,718 (GRCm39) |
T67A |
possibly damaging |
Het |
Exo1 |
C |
T |
1: 175,716,327 (GRCm39) |
P148L |
probably damaging |
Het |
Hps4 |
A |
G |
5: 112,494,527 (GRCm39) |
I37V |
probably damaging |
Het |
Krt9 |
T |
A |
11: 100,083,942 (GRCm39) |
M30L |
unknown |
Het |
Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
Or10ak12 |
T |
G |
4: 118,666,058 (GRCm39) |
Q318H |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,451 (GRCm39) |
E15G |
probably benign |
Het |
Phf3 |
G |
A |
1: 30,844,556 (GRCm39) |
Q1468* |
probably null |
Het |
Phkb |
A |
G |
8: 86,770,431 (GRCm39) |
K900R |
possibly damaging |
Het |
Pirb |
G |
A |
7: 3,715,990 (GRCm39) |
H755Y |
probably benign |
Het |
Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,468,284 (GRCm39) |
|
probably benign |
Het |
Serpina3a |
C |
A |
12: 104,082,787 (GRCm39) |
Q187K |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Syne1 |
C |
T |
10: 4,997,573 (GRCm39) |
E465K |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,584,336 (GRCm39) |
T360A |
probably damaging |
Het |
Tlk2 |
T |
G |
11: 105,132,417 (GRCm39) |
I217R |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,758,338 (GRCm39) |
D377G |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,146,195 (GRCm39) |
D866G |
probably damaging |
Het |
Tubd1 |
T |
A |
11: 86,446,017 (GRCm39) |
I219N |
probably benign |
Het |
Ugt3a1 |
C |
A |
15: 9,351,203 (GRCm39) |
P71T |
probably benign |
Het |
Vmn1r64 |
A |
G |
7: 5,887,535 (GRCm39) |
S3P |
probably benign |
Het |
|
Other mutations in Pus1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0145:Pus1
|
UTSW |
5 |
110,922,720 (GRCm39) |
missense |
probably benign |
0.09 |
R0242:Pus1
|
UTSW |
5 |
110,927,664 (GRCm39) |
missense |
probably benign |
0.02 |
R0242:Pus1
|
UTSW |
5 |
110,927,664 (GRCm39) |
missense |
probably benign |
0.02 |
R0486:Pus1
|
UTSW |
5 |
110,927,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1922:Pus1
|
UTSW |
5 |
110,925,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4528:Pus1
|
UTSW |
5 |
110,922,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4609:Pus1
|
UTSW |
5 |
110,928,184 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
R4846:Pus1
|
UTSW |
5 |
110,927,796 (GRCm39) |
intron |
probably benign |
|
R5720:Pus1
|
UTSW |
5 |
110,925,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R6207:Pus1
|
UTSW |
5 |
110,925,580 (GRCm39) |
missense |
probably benign |
0.12 |
R7123:Pus1
|
UTSW |
5 |
110,921,798 (GRCm39) |
makesense |
probably null |
|
R7449:Pus1
|
UTSW |
5 |
110,922,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R7827:Pus1
|
UTSW |
5 |
110,927,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R8976:Pus1
|
UTSW |
5 |
110,922,789 (GRCm39) |
missense |
possibly damaging |
0.65 |
RF016:Pus1
|
UTSW |
5 |
110,924,424 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAAAGTGAACCCTCTCCAG -3'
(R):5'- TGCCTTTGCTCACAAGGACC -3'
Sequencing Primer
(F):5'- GTGAACCCTCTCCAGGACTAAG -3'
(R):5'- CTCACAAGGACCGGGATGTAC -3'
|
Posted On |
2014-10-30 |