Incidental Mutation 'IGL03193:Usp17lb'
| ID |
412705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp17lb
|
| Ensembl Gene |
ENSMUSG00000062369 |
| Gene Name |
ubiquitin specific peptidase 17-like B |
| Synonyms |
Dub1a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL03193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104490484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 148
(S148T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
| AlphaFold |
E9Q9U0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076501
AA Change: S148T
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: S148T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
50 |
345 |
3.2e-55 |
PFAM |
|
Pfam:UCH_1
|
51 |
327 |
6.8e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106814
AA Change: S147T
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: S147T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
49 |
344 |
2.3e-61 |
PFAM |
|
Pfam:UCH_1
|
50 |
326 |
1.5e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef12 |
T |
C |
9: 42,903,829 (GRCm39) |
|
probably benign |
Het |
| Bmper |
C |
A |
9: 23,277,544 (GRCm39) |
H211Q |
possibly damaging |
Het |
| C130074G19Rik |
A |
T |
1: 184,614,899 (GRCm39) |
L97Q |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,492,626 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,764 (GRCm39) |
Y30H |
probably benign |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,846 (GRCm39) |
D239V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,925,965 (GRCm39) |
Y3723F |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,912,263 (GRCm39) |
|
probably benign |
Het |
| Gm382 |
G |
A |
X: 125,971,321 (GRCm39) |
A1169T |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,195,020 (GRCm39) |
L696P |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,298,079 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,309,962 (GRCm39) |
L1104P |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,279,369 (GRCm39) |
V945A |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,740,264 (GRCm39) |
F577L |
probably damaging |
Het |
| Ndst2 |
A |
T |
14: 20,779,917 (GRCm39) |
S108T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Neo1 |
T |
C |
9: 58,815,767 (GRCm39) |
Y836C |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,251 (GRCm39) |
L246P |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,263 (GRCm39) |
C191R |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,924,163 (GRCm39) |
S471P |
possibly damaging |
Het |
| Patl1 |
T |
A |
19: 11,898,204 (GRCm39) |
D127E |
possibly damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,376 (GRCm39) |
S284T |
possibly damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,080 (GRCm39) |
N75K |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,963 (GRCm39) |
M265L |
probably benign |
Het |
| Slc9a2 |
G |
T |
1: 40,795,431 (GRCm39) |
V511L |
probably benign |
Het |
| Tm9sf5 |
A |
G |
X: 56,463,503 (GRCm39) |
|
probably benign |
Het |
| Tnp1 |
G |
A |
1: 73,054,923 (GRCm39) |
R34W |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,315,831 (GRCm39) |
D2036G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,803,236 (GRCm39) |
V893A |
possibly damaging |
Het |
| Tshb |
T |
C |
3: 102,685,515 (GRCm39) |
Y38C |
probably damaging |
Het |
|
| Other mutations in Usp17lb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01559:Usp17lb
|
APN |
7 |
104,490,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01571:Usp17lb
|
APN |
7 |
104,489,588 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01624:Usp17lb
|
APN |
7 |
104,491,720 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02582:Usp17lb
|
APN |
7 |
104,489,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Usp17lb
|
UTSW |
7 |
104,490,358 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0420:Usp17lb
|
UTSW |
7 |
104,489,746 (GRCm39) |
missense |
probably benign |
|
|
R1202:Usp17lb
|
UTSW |
7 |
104,491,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1628:Usp17lb
|
UTSW |
7 |
104,490,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Usp17lb
|
UTSW |
7 |
104,489,622 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2214:Usp17lb
|
UTSW |
7 |
104,490,639 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2283:Usp17lb
|
UTSW |
7 |
104,489,859 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2866:Usp17lb
|
UTSW |
7 |
104,489,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Usp17lb
|
UTSW |
7 |
104,490,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5004:Usp17lb
|
UTSW |
7 |
104,490,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5090:Usp17lb
|
UTSW |
7 |
104,490,290 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5143:Usp17lb
|
UTSW |
7 |
104,490,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Usp17lb
|
UTSW |
7 |
104,489,615 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5568:Usp17lb
|
UTSW |
7 |
104,490,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Usp17lb
|
UTSW |
7 |
104,489,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5647:Usp17lb
|
UTSW |
7 |
104,489,881 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5981:Usp17lb
|
UTSW |
7 |
104,490,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Usp17lb
|
UTSW |
7 |
104,489,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6114:Usp17lb
|
UTSW |
7 |
104,489,571 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6185:Usp17lb
|
UTSW |
7 |
104,490,631 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6279:Usp17lb
|
UTSW |
7 |
104,489,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Usp17lb
|
UTSW |
7 |
104,489,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Usp17lb
|
UTSW |
7 |
104,490,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7000:Usp17lb
|
UTSW |
7 |
104,490,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Usp17lb
|
UTSW |
7 |
104,490,798 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7318:Usp17lb
|
UTSW |
7 |
104,490,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7372:Usp17lb
|
UTSW |
7 |
104,490,913 (GRCm39) |
splice site |
probably null |
|
|
R7809:Usp17lb
|
UTSW |
7 |
104,490,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Usp17lb
|
UTSW |
7 |
104,490,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Usp17lb
|
UTSW |
7 |
104,490,481 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8283:Usp17lb
|
UTSW |
7 |
104,490,013 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8385:Usp17lb
|
UTSW |
7 |
104,489,830 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8942:Usp17lb
|
UTSW |
7 |
104,490,583 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8996:Usp17lb
|
UTSW |
7 |
104,490,889 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9598:Usp17lb
|
UTSW |
7 |
104,489,718 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9697:Usp17lb
|
UTSW |
7 |
104,490,495 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0021:Usp17lb
|
UTSW |
7 |
104,490,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Usp17lb
|
UTSW |
7 |
104,490,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation