Incidental Mutation 'R7137:Usp17lb'
| ID |
553130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp17lb
|
| Ensembl Gene |
ENSMUSG00000062369 |
| Gene Name |
ubiquitin specific peptidase 17-like B |
| Synonyms |
Dub1a |
| MMRRC Submission |
045248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104489464-104491790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104490798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 43
(W43L)
|
| 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: W43L
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: W43L
| 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: W42L
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: W42L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
49 |
344 |
2.3e-61 |
PFAM |
|
Pfam:UCH_1
|
50 |
326 |
1.5e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,173,399 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
| Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,078,632 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
| Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
| Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
| Cyp2d12 |
C |
T |
15: 82,442,022 (GRCm39) |
A280V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
| Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
| Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
| Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
| Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
| Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
| Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
| Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,989 (GRCm39) |
R1156G |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
| Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,803,228 (GRCm39) |
T21A |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
| Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
| Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
| Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
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 |
|
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 |
|
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'- CTTCCATAGCACACATCTTACAG -3'
(R):5'- AAGGCCTTTTGTAGCTTGCA -3'
Sequencing Primer
(F):5'- ACATCTTACAGCCTTCTGGGGAAC -3'
(R):5'- CCTGTAACATAATGGTGGGTCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation