Incidental Mutation 'IGL01571:Usp17lb'
ID |
93286 |
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 # |
IGL01571
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104489588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 445
(N445K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
AlphaFold |
E9Q9U0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076501
AA Change: N446K
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000075822 Gene: ENSMUSG00000062369 AA Change: N446K
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 |
possibly damaging
Transcript: ENSMUST00000106814
AA Change: N445K
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102427 Gene: ENSMUSG00000062369 AA Change: N445K
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
A |
9: 21,450,377 (GRCm39) |
|
probably benign |
Het |
Cep164 |
T |
C |
9: 45,705,636 (GRCm39) |
Q127R |
possibly damaging |
Het |
Ces1f |
T |
A |
8: 93,984,996 (GRCm39) |
M444L |
probably benign |
Het |
Chd5 |
T |
A |
4: 152,468,572 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
A |
11: 76,673,122 (GRCm39) |
Y1341F |
probably damaging |
Het |
Cryz |
T |
C |
3: 154,327,380 (GRCm39) |
I268T |
probably damaging |
Het |
Csnk2a1 |
G |
A |
2: 152,117,326 (GRCm39) |
R278H |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,295,354 (GRCm39) |
I487V |
probably benign |
Het |
Dnajb5 |
T |
C |
4: 42,956,516 (GRCm39) |
|
probably benign |
Het |
Dxo |
A |
T |
17: 35,058,016 (GRCm39) |
H214L |
probably damaging |
Het |
Etfb |
T |
C |
7: 43,102,383 (GRCm39) |
|
probably null |
Het |
G6pc2 |
G |
A |
2: 69,053,311 (GRCm39) |
V122I |
probably damaging |
Het |
Gm5431 |
A |
T |
11: 48,785,540 (GRCm39) |
D278E |
probably benign |
Het |
Gstt2 |
C |
T |
10: 75,670,005 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
C |
3: 3,716,326 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
T |
C |
3: 151,451,174 (GRCm39) |
D259G |
probably damaging |
Het |
Klk1 |
T |
C |
7: 43,878,020 (GRCm39) |
V92A |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,915,211 (GRCm39) |
I222T |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,461,826 (GRCm39) |
N1510D |
possibly damaging |
Het |
Ndufaf7 |
A |
G |
17: 79,251,281 (GRCm39) |
R229G |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,640,839 (GRCm39) |
V1069M |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,022,031 (GRCm39) |
H528R |
probably benign |
Het |
Or10p21 |
A |
T |
10: 128,847,696 (GRCm39) |
I181F |
probably damaging |
Het |
Or4k48 |
C |
A |
2: 111,475,725 (GRCm39) |
V206L |
probably benign |
Het |
Or7a39 |
A |
G |
10: 78,715,671 (GRCm39) |
I222V |
possibly damaging |
Het |
Pigh |
A |
C |
12: 79,132,634 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
T |
5: 32,986,150 (GRCm39) |
M1115K |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,388,750 (GRCm39) |
D114G |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Pygb |
T |
C |
2: 150,672,393 (GRCm39) |
S831P |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,736,647 (GRCm39) |
D2260V |
probably damaging |
Het |
Sgo2a |
T |
C |
1: 58,057,133 (GRCm39) |
S1106P |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,976 (GRCm39) |
|
probably benign |
Het |
Tekt4 |
A |
G |
17: 25,695,358 (GRCm39) |
D397G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,770,097 (GRCm39) |
|
probably benign |
Het |
Upf2 |
T |
C |
2: 6,023,750 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
A |
G |
17: 22,790,373 (GRCm39) |
V211A |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,681,366 (GRCm39) |
I91M |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,877,635 (GRCm39) |
|
probably benign |
Het |
Zc3hc1 |
G |
A |
6: 30,390,862 (GRCm39) |
T47I |
probably benign |
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 |
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 |
IGL03193:Usp17lb
|
APN |
7 |
104,490,484 (GRCm39) |
missense |
possibly damaging |
0.46 |
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 |
2013-12-09 |