Incidental Mutation 'IGL03252:Pus7l'
ID |
414555 |
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 # |
IGL03252
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
94420569-94441428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94423691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 586
(H586L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049151]
|
AlphaFold |
Q8CE46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049151
AA Change: H586L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044075 Gene: ENSMUSG00000033356 AA Change: H586L
Domain | Start | End | E-Value | Type |
Pfam:TruD
|
280 |
697 |
1e-70 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galnt2 |
A |
G |
11: 95,764,757 (GRCm39) |
S237P |
probably damaging |
Het |
Btla |
A |
G |
16: 45,059,509 (GRCm39) |
H71R |
possibly damaging |
Het |
Calml3 |
T |
A |
13: 3,853,759 (GRCm39) |
K149* |
probably null |
Het |
Cyp2c29 |
T |
C |
19: 39,275,619 (GRCm39) |
W20R |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
Elf3 |
T |
C |
1: 135,182,691 (GRCm39) |
T345A |
probably damaging |
Het |
Erc2 |
T |
C |
14: 28,197,606 (GRCm39) |
|
probably benign |
Het |
Gm10375 |
C |
T |
14: 43,842,289 (GRCm39) |
C147Y |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,539,916 (GRCm39) |
R13G |
probably damaging |
Het |
H3c1 |
G |
A |
13: 23,945,943 (GRCm39) |
|
probably null |
Het |
Ighg3 |
G |
T |
12: 113,324,184 (GRCm39) |
P101H |
unknown |
Het |
L3mbtl3 |
A |
G |
10: 26,207,710 (GRCm39) |
|
probably benign |
Het |
Micall2 |
T |
C |
5: 139,702,481 (GRCm39) |
N254S |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,143,042 (GRCm39) |
D990V |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,962,745 (GRCm39) |
F394I |
probably damaging |
Het |
Nek1 |
C |
T |
8: 61,525,364 (GRCm39) |
Q601* |
probably null |
Het |
Or4k37 |
T |
A |
2: 111,159,125 (GRCm39) |
Y120* |
probably null |
Het |
Or52n2c |
C |
T |
7: 104,574,594 (GRCm39) |
V126I |
probably benign |
Het |
Plcb1 |
C |
T |
2: 135,212,348 (GRCm39) |
P980S |
probably benign |
Het |
Puf60 |
T |
C |
15: 75,943,699 (GRCm39) |
D224G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,315,748 (GRCm39) |
S585P |
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,574,990 (GRCm39) |
D207V |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sptlc2 |
A |
G |
12: 87,402,431 (GRCm39) |
I165T |
probably benign |
Het |
Sult2a3 |
A |
G |
7: 13,801,559 (GRCm39) |
V260A |
probably damaging |
Het |
Tas2r125 |
A |
G |
6: 132,887,553 (GRCm39) |
|
probably null |
Het |
Tbx18 |
T |
A |
9: 87,587,633 (GRCm39) |
I495F |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,393,163 (GRCm38) |
N274I |
possibly damaging |
Het |
Vmn2r53 |
T |
G |
7: 12,340,318 (GRCm39) |
T52P |
probably damaging |
Het |
|
Other mutations in Pus7l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01713:Pus7l
|
APN |
15 |
94,429,493 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
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 |
2016-08-02 |