Incidental Mutation 'R2085:Usp17lb'
ID |
230261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp17lb
|
Ensembl Gene |
ENSMUSG00000062369 |
Gene Name |
ubiquitin specific peptidase 17-like B |
Synonyms |
Dub1a |
MMRRC Submission |
040090-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R2085 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104489622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 434
(Q434L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
AlphaFold |
E9Q9U0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076501
AA Change: Q435L
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075822 Gene: ENSMUSG00000062369 AA Change: Q435L
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 |
possibly damaging
Transcript: ENSMUST00000106814
AA Change: Q434L
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102427 Gene: ENSMUSG00000062369 AA Change: Q434L
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
G |
T |
11: 69,791,198 (GRCm39) |
T127K |
possibly damaging |
Het |
A2m |
T |
G |
6: 121,653,918 (GRCm39) |
I1417S |
probably damaging |
Het |
Acad10 |
A |
G |
5: 121,787,523 (GRCm39) |
I142T |
possibly damaging |
Het |
Adprm |
T |
A |
11: 66,932,678 (GRCm39) |
D77V |
probably damaging |
Het |
Apob |
C |
T |
12: 8,062,240 (GRCm39) |
T3574I |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,178,908 (GRCm39) |
K2489R |
probably damaging |
Het |
Bub1b |
A |
G |
2: 118,452,676 (GRCm39) |
E443G |
possibly damaging |
Het |
Cd9 |
A |
T |
6: 125,440,734 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
G |
A |
9: 71,538,160 (GRCm39) |
T1194M |
probably damaging |
Het |
Clec9a |
T |
C |
6: 129,387,274 (GRCm39) |
V43A |
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
Dpep3 |
A |
G |
8: 106,701,346 (GRCm39) |
V401A |
probably damaging |
Het |
Duox2 |
G |
T |
2: 122,111,448 (GRCm39) |
H1417N |
probably damaging |
Het |
Efhb |
C |
T |
17: 53,733,937 (GRCm39) |
|
probably null |
Het |
F2r |
T |
C |
13: 95,741,418 (GRCm39) |
N39S |
probably benign |
Het |
Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
Galt |
G |
A |
4: 41,758,162 (GRCm39) |
R309Q |
probably damaging |
Het |
Gas2l2 |
C |
A |
11: 83,318,209 (GRCm39) |
A167S |
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,438,672 (GRCm39) |
F904I |
possibly damaging |
Het |
Herc2 |
C |
A |
7: 55,862,713 (GRCm39) |
H4127Q |
possibly damaging |
Het |
Hipk1 |
T |
C |
3: 103,657,670 (GRCm39) |
T805A |
probably benign |
Het |
Hivep1 |
A |
G |
13: 42,337,226 (GRCm39) |
E2435G |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,015,273 (GRCm39) |
C1813* |
probably null |
Het |
Hyal4 |
C |
T |
6: 24,755,749 (GRCm39) |
|
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,903 (GRCm39) |
Y311C |
probably damaging |
Het |
Itih4 |
A |
G |
14: 30,614,280 (GRCm39) |
Y410C |
possibly damaging |
Het |
Lama2 |
A |
T |
10: 27,080,837 (GRCm39) |
C995* |
probably null |
Het |
Lingo4 |
C |
A |
3: 94,309,552 (GRCm39) |
D163E |
probably damaging |
Het |
Malt1 |
A |
G |
18: 65,606,218 (GRCm39) |
D642G |
probably damaging |
Het |
Mbd4 |
T |
A |
6: 115,825,918 (GRCm39) |
M358L |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,169,323 (GRCm39) |
F1498Y |
possibly damaging |
Het |
Me1 |
T |
C |
9: 86,495,607 (GRCm39) |
Q280R |
probably damaging |
Het |
Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Or13p10 |
T |
C |
4: 118,523,301 (GRCm39) |
S196P |
probably damaging |
Het |
Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or5h18 |
C |
T |
16: 58,848,232 (GRCm39) |
V13I |
probably benign |
Het |
Or8b1c |
A |
G |
9: 38,384,223 (GRCm39) |
Y60C |
probably damaging |
Het |
Polr2j |
T |
C |
5: 136,145,625 (GRCm39) |
F7L |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,577,796 (GRCm39) |
D303E |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,345 (GRCm39) |
E763G |
probably damaging |
Het |
Rdh11 |
T |
C |
12: 79,229,556 (GRCm39) |
Y239C |
possibly damaging |
Het |
Sdhaf3 |
A |
G |
6: 6,956,048 (GRCm39) |
R8G |
probably benign |
Het |
Sgk2 |
T |
C |
2: 162,854,890 (GRCm39) |
S305P |
probably damaging |
Het |
Sptbn2 |
A |
G |
19: 4,788,587 (GRCm39) |
S1189G |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,790,023 (GRCm39) |
L581P |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,110 (GRCm39) |
Q111R |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,784,108 (GRCm39) |
R775C |
probably damaging |
Het |
Wdr46 |
G |
T |
17: 34,160,425 (GRCm39) |
E135* |
probably null |
Het |
Zfp318 |
T |
A |
17: 46,720,590 (GRCm39) |
|
probably null |
Het |
Zfp874a |
T |
A |
13: 67,590,967 (GRCm39) |
H239L |
probably damaging |
Het |
Zscan29 |
A |
T |
2: 121,000,427 (GRCm39) |
L60* |
probably null |
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 |
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 |
R5143:Usp17lb
|
UTSW |
7 |
104,490,685 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GATGCCCAGTGTTCACAGAG -3'
(R):5'- GTTCTTGATGCCAAATACCAGCTG -3'
Sequencing Primer
(F):5'- CAGTGTTCACAGAGCCTTGAG -3'
(R):5'- GATGCCAAATACCAGCTGAAGAAATC -3'
|
Posted On |
2014-09-18 |