Incidental Mutation 'IGL02582:Usp17lb'
| ID |
299366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.130)
|
| Stock # |
IGL02582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104489937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 330
(C330F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
| AlphaFold |
E9Q9U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076501
AA Change: C330F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: C330F
| 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: C329F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: C329F
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
| Actr3b |
A |
G |
5: 26,037,411 (GRCm39) |
I208V |
probably benign |
Het |
| Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
| Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
| Ctns |
A |
G |
11: 73,087,478 (GRCm39) |
F16S |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,773,819 (GRCm39) |
L10P |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
| Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
| Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
| Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
| Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
| Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
| Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
| Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
| Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
| Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,488,427 (GRCm39) |
M35R |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
| Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
| Themis |
T |
C |
10: 28,637,543 (GRCm39) |
F216L |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation