Incidental Mutation 'IGL01624:Usp17lb'
| ID |
92664 |
| 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 # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 104491720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
| AlphaFold |
E9Q9U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076501
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
| 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 |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
| Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly 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 |
|
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 |
Incidental Mutation