Incidental Mutation 'R3610:Usp17la'
| ID |
269204 |
| Institutional Source |
Beutler Lab
|
| 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: 0.083)
|
| Stock # |
R3610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104506223-104511874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104510279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 295
(V295I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067695]
|
| AlphaFold |
Q61068 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067695
AA Change: V295I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: V295I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
C |
A |
11: 94,452,172 (GRCm39) |
V457L |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,285,694 (GRCm39) |
R733S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,443,276 (GRCm39) |
F989S |
probably damaging |
Het |
| Dcaf10 |
G |
T |
4: 45,372,962 (GRCm39) |
E409* |
probably null |
Het |
| Ddx3y |
T |
C |
Y: 1,263,928 (GRCm39) |
N545S |
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,458 (GRCm39) |
S448G |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,928,631 (GRCm39) |
I681V |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rcl1 |
A |
G |
19: 29,095,630 (GRCm39) |
T72A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,658 (GRCm39) |
F796S |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tars1 |
T |
C |
15: 11,392,990 (GRCm39) |
Y152C |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,793,710 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
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 |
|
IGL02236:Usp17la
|
APN |
7 |
104,510,353 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACCCTGCATGTTCATATTGC -3'
(R):5'- AGCTGGTATTCAGGGTCAAGAAC -3'
Sequencing Primer
(F):5'- TGCTCCAAAGGTACTCATGG -3'
(R):5'- CCCTCTGGCATGTCAATACTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation