Incidental Mutation 'R6732:Pusl1'
ID |
530102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pusl1
|
Ensembl Gene |
ENSMUSG00000051557 |
Gene Name |
pseudouridylate synthase-like 1 |
Synonyms |
2810021I11Rik |
MMRRC Submission |
044850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R6732 (G1)
|
Quality Score |
140.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155973314-155976231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155975573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030901]
[ENSMUST00000079031]
[ENSMUST00000097737]
[ENSMUST00000105584]
[ENSMUST00000120794]
[ENSMUST00000156460]
|
AlphaFold |
A2ADA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030901
|
SMART Domains |
Protein: ENSMUSP00000030901 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
Lactamase_B
|
16 |
233 |
3.38e-17 |
SMART |
Beta-Casp
|
245 |
363 |
6.94e-37 |
SMART |
Pfam:RMMBL
|
376 |
418 |
1.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079031
|
SMART Domains |
Protein: ENSMUSP00000078040 Gene: ENSMUSG00000029033
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
PH
|
265 |
361 |
6.35e-16 |
SMART |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
ANK
|
696 |
725 |
3.91e-3 |
SMART |
ANK
|
729 |
758 |
2.43e1 |
SMART |
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097737
AA Change: S87P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095344 Gene: ENSMUSG00000051557 AA Change: S87P
Domain | Start | End | E-Value | Type |
Pfam:PseudoU_synth_1
|
16 |
124 |
2.5e-12 |
PFAM |
Pfam:PseudoU_synth_1
|
168 |
285 |
1.1e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105584
|
SMART Domains |
Protein: ENSMUSP00000101209 Gene: ENSMUSG00000029033
Domain | Start | End | E-Value | Type |
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
PH
|
269 |
365 |
6.35e-16 |
SMART |
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
ANK
|
700 |
729 |
3.91e-3 |
SMART |
ANK
|
733 |
762 |
2.43e1 |
SMART |
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120794
|
SMART Domains |
Protein: ENSMUSP00000112656 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
Lactamase_B
|
16 |
211 |
6.42e-9 |
SMART |
Beta-Casp
|
223 |
341 |
6.94e-37 |
SMART |
Pfam:RMMBL
|
354 |
396 |
3.6e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156460
|
SMART Domains |
Protein: ENSMUSP00000118803 Gene: ENSMUSG00000029034
Domain | Start | End | E-Value | Type |
SCOP:d1smla_
|
1 |
66 |
7e-7 |
SMART |
PDB:2I7V|A
|
3 |
38 |
1e-9 |
PDB |
Blast:Lactamase_B
|
16 |
66 |
4e-30 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,551,374 (GRCm39) |
N110K |
probably damaging |
Het |
Cyp2c69 |
A |
G |
19: 39,869,943 (GRCm39) |
V93A |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
Galnt2 |
T |
A |
8: 125,067,561 (GRCm39) |
W447R |
probably damaging |
Het |
Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
Mroh7 |
GTT |
GTTT |
4: 106,537,910 (GRCm39) |
|
probably null |
Het |
Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
Smyd3 |
T |
G |
1: 179,223,395 (GRCm39) |
H178P |
probably benign |
Het |
Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
probably damaging |
Het |
|
Other mutations in Pusl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01765:Pusl1
|
APN |
4 |
155,974,170 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02056:Pusl1
|
APN |
4 |
155,975,029 (GRCm39) |
missense |
probably benign |
0.05 |
R4377:Pusl1
|
UTSW |
4 |
155,975,037 (GRCm39) |
missense |
probably benign |
|
R4501:Pusl1
|
UTSW |
4 |
155,973,999 (GRCm39) |
missense |
probably benign |
0.00 |
R4893:Pusl1
|
UTSW |
4 |
155,973,998 (GRCm39) |
missense |
probably benign |
0.20 |
R4911:Pusl1
|
UTSW |
4 |
155,975,899 (GRCm39) |
unclassified |
probably benign |
|
R6029:Pusl1
|
UTSW |
4 |
155,973,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:Pusl1
|
UTSW |
4 |
155,975,005 (GRCm39) |
missense |
probably damaging |
0.96 |
R9259:Pusl1
|
UTSW |
4 |
155,975,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9718:Pusl1
|
UTSW |
4 |
155,976,094 (GRCm39) |
missense |
probably benign |
|
Z1177:Pusl1
|
UTSW |
4 |
155,975,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATGCCCAACTGTCCACAC -3'
(R):5'- TGAACTTCCTGGAGGTGAGGAC -3'
Sequencing Primer
(F):5'- TGTCCACACAGCACTATGG -3'
(R):5'- AGTCGGCAGCTCCAACC -3'
|
Posted On |
2018-08-01 |