Incidental Mutation 'R8996:Usp17lb'
| ID |
684722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp17lb
|
| Ensembl Gene |
ENSMUSG00000062369 |
| Gene Name |
ubiquitin specific peptidase 17-like B |
| Synonyms |
Dub1a |
| MMRRC Submission |
068827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R8996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104490889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 13
(A13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076501]
[ENSMUST00000106814]
|
| AlphaFold |
E9Q9U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076501
AA Change: A13T
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: A13T
| 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 benign
Transcript: ENSMUST00000106814
AA Change: A12T
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: A12T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,769,069 (GRCm39) |
I764V |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
C |
16: 52,126,114 (GRCm39) |
I68V |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,850,696 (GRCm39) |
L75P |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,799 (GRCm39) |
N387S |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,662,831 (GRCm39) |
E373G |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,941,347 (GRCm39) |
H1831Y |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,255,945 (GRCm39) |
C564* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,823,543 (GRCm39) |
W1276R |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,971,105 (GRCm39) |
E3070G |
possibly damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,538 (GRCm39) |
I41T |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,323,242 (GRCm39) |
N583K |
probably damaging |
Het |
| Fignl1 |
G |
T |
11: 11,752,953 (GRCm39) |
P34Q |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,085 (GRCm39) |
D138G |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,046 (GRCm39) |
M578K |
possibly damaging |
Het |
| Gnb5 |
T |
C |
9: 75,251,805 (GRCm39) |
V351A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,531 (GRCm39) |
I245F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igkv4-54 |
A |
T |
6: 69,608,774 (GRCm39) |
Y48* |
probably null |
Het |
| Kdm7a |
A |
C |
6: 39,129,786 (GRCm39) |
H463Q |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,769,997 (GRCm39) |
T256A |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,212,484 (GRCm39) |
D17G |
probably damaging |
Het |
| Mis18bp1 |
C |
T |
12: 65,180,632 (GRCm39) |
V950I |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,945 (GRCm39) |
T219A |
probably benign |
Het |
| Nptx1 |
G |
A |
11: 119,438,394 (GRCm39) |
R8C |
unknown |
Het |
| Plcxd1 |
A |
G |
5: 110,250,444 (GRCm39) |
T262A |
probably benign |
Het |
| Sf1 |
G |
A |
19: 6,426,441 (GRCm39) |
G221S |
|
Het |
| Shkbp1 |
A |
G |
7: 27,042,844 (GRCm39) |
V531A |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,056,063 (GRCm39) |
E66D |
probably benign |
Het |
| Slc14a1 |
A |
T |
18: 78,156,911 (GRCm39) |
I198K |
possibly damaging |
Het |
| Spag8 |
T |
C |
4: 43,651,998 (GRCm39) |
E362G |
probably damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,915,886 (GRCm39) |
I161L |
probably benign |
Het |
| Stk3 |
A |
G |
15: 34,945,208 (GRCm39) |
S427P |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,073,065 (GRCm39) |
K814E |
unknown |
Het |
| Synpo |
T |
A |
18: 60,737,230 (GRCm39) |
I239F |
possibly damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,563 (GRCm39) |
R97S |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,247 (GRCm39) |
Y56N |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,820,136 (GRCm39) |
N112S |
probably benign |
Het |
| Usp14 |
T |
C |
18: 10,000,521 (GRCm39) |
K380E |
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,268,909 (GRCm39) |
R921H |
probably damaging |
Het |
| Xndc1 |
A |
G |
7: 101,722,518 (GRCm39) |
D61G |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,946,016 (GRCm39) |
P270S |
possibly 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 |
|
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 |
|
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'- GTCAAGCACTGCAGGGCTG -3'
(R):5'- ATAAGGCCTTTTGTAGCTTGCATG -3'
Sequencing Primer
(F):5'- CTGCATTCAGGTAGCAGCTG -3'
(R):5'- TGAGCCATGAATATCTCTCAGGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation