Incidental Mutation 'R4501:Pusl1'
| ID |
331803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pusl1
|
| Ensembl Gene |
ENSMUSG00000051557 |
| Gene Name |
pseudouridylate synthase-like 1 |
| Synonyms |
2810021I11Rik |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155973314-155976231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155973999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
| 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: T252A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557
AA Change: T252A
| 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: ENSMUST00000126582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131168
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
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 |
|
|
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 |
|
R6732:Pusl1
|
UTSW |
4 |
155,975,573 (GRCm39) |
missense |
probably benign |
|
|
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'- AATGTGGGCTTTGACTGCATC -3'
(R):5'- CAAAGCTGTCTGTGTTCCTAGG -3'
Sequencing Primer
(F):5'- GGGCTTTGACTGCATCCAAAAGTC -3'
(R):5'- TCCTAGGAGGCTGCAGTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation