Incidental Mutation 'IGL01713:Pus7l'
| ID |
104853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pus7l
|
| Ensembl Gene |
ENSMUSG00000033356 |
| Gene Name |
pseudouridylate synthase 7-like |
| Synonyms |
3000003F02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
94420569-94441428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94429493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 442
(T442A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049151]
|
| AlphaFold |
Q8CE46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049151
AA Change: T442A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: T442A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruD
|
280 |
697 |
1e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147832
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,740,772 (GRCm39) |
I148T |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,449 (GRCm39) |
C89R |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,897,694 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,518,589 (GRCm39) |
V83A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,921,025 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,946,512 (GRCm39) |
I418V |
possibly damaging |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,283 (GRCm39) |
P427L |
probably benign |
Het |
| Dnal4 |
A |
G |
15: 79,646,606 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Epha3 |
G |
A |
16: 63,372,925 (GRCm39) |
T926I |
probably benign |
Het |
| Fgg |
T |
C |
3: 82,915,723 (GRCm39) |
S55P |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,582 (GRCm39) |
M66K |
probably benign |
Het |
| Igkv12-89 |
G |
T |
6: 68,812,296 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,756 (GRCm39) |
E451G |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,895,714 (GRCm39) |
E179G |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,100,579 (GRCm39) |
D482V |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,652 (GRCm39) |
V109A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,013,062 (GRCm39) |
S1125P |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,490,087 (GRCm39) |
I150S |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,319 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
G |
6: 142,032,293 (GRCm39) |
S611P |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,330 (GRCm39) |
C374F |
probably damaging |
Het |
| Xntrpc |
T |
C |
7: 101,733,059 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pus7l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Pus7l
|
APN |
15 |
94,438,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Pus7l
|
APN |
15 |
94,427,369 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02731:Pus7l
|
APN |
15 |
94,421,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03252:Pus7l
|
APN |
15 |
94,423,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03392:Pus7l
|
APN |
15 |
94,434,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Pus7l
|
UTSW |
15 |
94,421,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0848:Pus7l
|
UTSW |
15 |
94,438,393 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1646:Pus7l
|
UTSW |
15 |
94,431,517 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1785:Pus7l
|
UTSW |
15 |
94,438,518 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2046:Pus7l
|
UTSW |
15 |
94,438,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2206:Pus7l
|
UTSW |
15 |
94,421,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Pus7l
|
UTSW |
15 |
94,438,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3618:Pus7l
|
UTSW |
15 |
94,425,788 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4485:Pus7l
|
UTSW |
15 |
94,421,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4487:Pus7l
|
UTSW |
15 |
94,429,498 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4686:Pus7l
|
UTSW |
15 |
94,438,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Pus7l
|
UTSW |
15 |
94,438,591 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4975:Pus7l
|
UTSW |
15 |
94,427,369 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5431:Pus7l
|
UTSW |
15 |
94,427,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5896:Pus7l
|
UTSW |
15 |
94,427,332 (GRCm39) |
splice site |
probably null |
|
|
R6408:Pus7l
|
UTSW |
15 |
94,429,456 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6681:Pus7l
|
UTSW |
15 |
94,425,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Pus7l
|
UTSW |
15 |
94,438,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7811:Pus7l
|
UTSW |
15 |
94,438,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Pus7l
|
UTSW |
15 |
94,425,856 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8833:Pus7l
|
UTSW |
15 |
94,438,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9177:Pus7l
|
UTSW |
15 |
94,431,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Pus7l
|
UTSW |
15 |
94,431,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9503:Pus7l
|
UTSW |
15 |
94,438,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9525:Pus7l
|
UTSW |
15 |
94,438,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Pus7l
|
UTSW |
15 |
94,425,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Pus7l
|
UTSW |
15 |
94,438,654 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0066:Pus7l
|
UTSW |
15 |
94,427,374 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2014-01-21 |
Incidental Mutation