Incidental Mutation 'R5143:Usp17lb'
| ID |
396524 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104490685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 80
(S80T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
| AlphaFold |
E9Q9U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076501
AA Change: S81T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: S81T
| 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 damaging
Transcript: ENSMUST00000106814
AA Change: S80T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: S80T
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably 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 |
|
IGL01624:Usp17lb
|
APN |
7 |
104,491,720 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCATGGGCATCTTCCTG -3'
(R):5'- TTGTGTTCTTGTCCCATAGCAG -3'
Sequencing Primer
(F):5'- GGGCATCTTCCTGCTTGCG -3'
(R):5'- TTGTCCCATAGCAGATCCAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation