Incidental Mutation 'R9739:Usp17la'
| ID |
731757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp17la
|
| Ensembl Gene |
ENSMUSG00000054568 |
| Gene Name |
ubiquitin specific peptidase 17-like A |
| Synonyms |
Dub1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R9739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104506223-104511874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104510736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 447
(N447I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067695]
|
| AlphaFold |
Q61068 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067695
AA Change: N447I
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068997
Gene: ENSMUSG00000054568
AA Change: N447I
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
| Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,385,847 (GRCm39) |
L80P |
possibly damaging |
Het |
| Casq1 |
T |
C |
1: 172,043,051 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
| Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
| Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
| Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
| Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
| Fyb1 |
A |
G |
15: 6,670,063 (GRCm39) |
N594S |
probably benign |
Het |
| Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
| Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
C |
T |
14: 72,690,264 (GRCm39) |
D1820N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
| Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
| Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
| Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
| Pramel24 |
T |
A |
4: 143,454,997 (GRCm39) |
F432I |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
| Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
| Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
| Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
| Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
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 |
|
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 |
|
|
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'- ATACCAGCTGAAGAAATCACGG -3'
(R):5'- TTCCTGTCTACAGAGCTGCC -3'
Sequencing Primer
(F):5'- CTTTCACAGAAGATTTAGGAGAGCCC -3'
(R):5'- TACAGAGCTGCCAAGTGTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation