Incidental Mutation 'R3684:Usp17la'
ID |
269467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp17la
|
Ensembl Gene |
ENSMUSG00000054568 |
Gene Name |
ubiquitin specific peptidase 17-like A |
Synonyms |
Dub1 |
MMRRC Submission |
040682-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R3684 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
104506223-104511874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104510937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 514
(N514I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067695]
|
AlphaFold |
Q61068 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067695
AA Change: N514I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000068997 Gene: ENSMUSG00000054568 AA Change: N514I
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: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
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 |
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 |
R3610:Usp17la
|
UTSW |
7 |
104,510,279 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AACTTGATCTGCCTGCTGATG -3'
(R):5'- ACAATCAGAGAGTCAGTCAGC -3'
Sequencing Primer
(F):5'- GATGCAATTGTGATTCACCAGCC -3'
(R):5'- GTCAGTCAGCAAAAACAGGC -3'
|
Posted On |
2015-02-19 |