Incidental Mutation 'IGL02236:Usp17la'
| ID |
285868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp17la
|
| Ensembl Gene |
ENSMUSG00000054568 |
| Gene Name |
ubiquitin specific peptidase 17-like A |
| Synonyms |
Dub1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104506223-104511874 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 104510353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 319
(W319*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067695]
|
| AlphaFold |
Q61068 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067695
AA Change: W319*
|
| SMART Domains |
Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: W319*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
50 |
345 |
3.3e-53 |
PFAM |
|
Pfam:UCH_1
|
51 |
328 |
1.1e-24 |
PFAM |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Dhrs3 |
A |
C |
4: 144,620,133 (GRCm39) |
I17L |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,928,534 (GRCm39) |
Y143C |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
| Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
| Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
| Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
| Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
| Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
| Smap2 |
T |
A |
4: 120,832,587 (GRCm39) |
M185L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,360 (GRCm39) |
V523A |
probably benign |
Het |
| Stk17b |
C |
A |
1: 53,803,247 (GRCm39) |
R184L |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
| Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
| Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
| Other mutations in Usp17la |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Usp17la
|
APN |
7 |
104,510,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01482:Usp17la
|
APN |
7 |
104,508,600 (GRCm39) |
start codon destroyed |
probably benign |
0.28 |
|
IGL03239:Usp17la
|
APN |
7 |
104,509,827 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0512:Usp17la
|
UTSW |
7 |
104,510,246 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1632:Usp17la
|
UTSW |
7 |
104,510,118 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1828:Usp17la
|
UTSW |
7 |
104,510,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Usp17la
|
UTSW |
7 |
104,509,953 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1976:Usp17la
|
UTSW |
7 |
104,509,527 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2058:Usp17la
|
UTSW |
7 |
104,510,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Usp17la
|
UTSW |
7 |
104,510,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Usp17la
|
UTSW |
7 |
104,508,600 (GRCm39) |
start codon destroyed |
probably benign |
0.28 |
|
R2197:Usp17la
|
UTSW |
7 |
104,509,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3610:Usp17la
|
UTSW |
7 |
104,510,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3684:Usp17la
|
UTSW |
7 |
104,510,937 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4480:Usp17la
|
UTSW |
7 |
104,509,897 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4633:Usp17la
|
UTSW |
7 |
104,509,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4701:Usp17la
|
UTSW |
7 |
104,509,856 (GRCm39) |
nonsense |
probably null |
|
|
R4907:Usp17la
|
UTSW |
7 |
104,510,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Usp17la
|
UTSW |
7 |
104,510,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5091:Usp17la
|
UTSW |
7 |
104,510,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Usp17la
|
UTSW |
7 |
104,510,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6269:Usp17la
|
UTSW |
7 |
104,509,557 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7054:Usp17la
|
UTSW |
7 |
104,510,514 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7395:Usp17la
|
UTSW |
7 |
104,510,792 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7570:Usp17la
|
UTSW |
7 |
104,509,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Usp17la
|
UTSW |
7 |
104,510,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Usp17la
|
UTSW |
7 |
104,510,654 (GRCm39) |
nonsense |
probably null |
|
|
R7674:Usp17la
|
UTSW |
7 |
104,510,654 (GRCm39) |
nonsense |
probably null |
|
|
R8098:Usp17la
|
UTSW |
7 |
104,510,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Usp17la
|
UTSW |
7 |
104,510,307 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9416:Usp17la
|
UTSW |
7 |
104,508,531 (GRCm39) |
start gained |
probably benign |
|
|
R9739:Usp17la
|
UTSW |
7 |
104,510,736 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9786:Usp17la
|
UTSW |
7 |
104,510,864 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0062:Usp17la
|
UTSW |
7 |
104,510,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Usp17la
|
UTSW |
7 |
104,510,233 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation