Incidental Mutation 'R5527:Usp13'
| ID |
431905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp13
|
| Ensembl Gene |
ENSMUSG00000056900 |
| Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
| Synonyms |
2700071E21Rik, IsoT-3, ISOT3 |
| MMRRC Submission |
043085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32919987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: D224G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: D224G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
|
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
UBA
|
652 |
690 |
1.25e-6 |
SMART |
|
UBA
|
724 |
761 |
1.19e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108228
AA Change: D223G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: D223G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
1e-17 |
BLAST |
|
low complexity region
|
115 |
133 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
207 |
262 |
2.91e-20 |
SMART |
|
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
|
UBA
|
651 |
689 |
1.25e-6 |
SMART |
|
UBA
|
723 |
760 |
1.19e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172481
AA Change: D224G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: D224G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:ZnF_UBP
|
46 |
91 |
9e-18 |
BLAST |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
ZnF_UBP
|
208 |
263 |
2.91e-20 |
SMART |
|
Pfam:UCH
|
333 |
523 |
5.1e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,278,842 (GRCm39) |
Y1051N |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,433 (GRCm39) |
S325P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,960,786 (GRCm39) |
S1529P |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,396,134 (GRCm39) |
L168P |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,730,401 (GRCm39) |
M426T |
probably benign |
Het |
| Cdk7 |
C |
T |
13: 100,866,980 (GRCm39) |
V38I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,764,440 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Cplane2 |
C |
A |
4: 140,947,303 (GRCm39) |
A228D |
probably damaging |
Het |
| Ddx47 |
C |
A |
6: 134,988,657 (GRCm39) |
A18E |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,328,014 (GRCm39) |
Q3370* |
probably null |
Het |
| Dnah6 |
C |
T |
6: 73,136,212 (GRCm39) |
V976I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,842,105 (GRCm39) |
|
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,413,555 (GRCm39) |
I362N |
possibly damaging |
Het |
| Fam118a |
A |
T |
15: 84,942,999 (GRCm39) |
T343S |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,060 (GRCm39) |
D1021E |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,883,746 (GRCm39) |
Y83C |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,525,581 (GRCm39) |
I709T |
probably damaging |
Het |
| Gga3 |
G |
T |
11: 115,478,262 (GRCm39) |
A510D |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,417,641 (GRCm39) |
I264T |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,419,829 (GRCm39) |
I384T |
probably benign |
Het |
| Hes2 |
T |
C |
4: 152,244,849 (GRCm39) |
V106A |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,569 (GRCm39) |
M1083K |
probably damaging |
Het |
| Il7r |
A |
T |
15: 9,513,010 (GRCm39) |
D166E |
probably benign |
Het |
| Ipo4 |
G |
A |
14: 55,869,507 (GRCm39) |
|
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,662,187 (GRCm39) |
I15T |
probably benign |
Het |
| Krt42 |
T |
C |
11: 100,154,121 (GRCm39) |
|
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,885,592 (GRCm39) |
T263A |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,586 (GRCm39) |
|
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,745,377 (GRCm39) |
H90L |
probably damaging |
Het |
| Lvrn |
G |
A |
18: 47,006,870 (GRCm39) |
D331N |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,187 (GRCm39) |
W342R |
probably damaging |
Het |
| Mob2 |
A |
G |
7: 141,563,147 (GRCm39) |
F220S |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,486,865 (GRCm39) |
I342T |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,349,368 (GRCm39) |
Y46H |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,224,465 (GRCm39) |
V10A |
unknown |
Het |
| Nlrc5 |
A |
G |
8: 95,217,044 (GRCm39) |
H1011R |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,921 (GRCm39) |
T2A |
possibly damaging |
Het |
| Nrros |
T |
C |
16: 31,963,288 (GRCm39) |
N207S |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,768 (GRCm39) |
S143T |
probably benign |
Het |
| Or7c70 |
C |
T |
10: 78,683,609 (GRCm39) |
V47M |
probably benign |
Het |
| Pcare |
A |
T |
17: 72,059,635 (GRCm39) |
V14D |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,000,052 (GRCm39) |
T714I |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,616 (GRCm39) |
T1499A |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,081 (GRCm39) |
K771E |
probably damaging |
Het |
| Sbds |
T |
C |
5: 130,275,247 (GRCm39) |
E227G |
possibly damaging |
Het |
| Setd1a |
C |
T |
7: 127,384,801 (GRCm39) |
P8S |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
| Spef1 |
T |
A |
2: 131,014,661 (GRCm39) |
D87V |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,265,608 (GRCm39) |
R644Q |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,769 (GRCm39) |
F51S |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,739 (GRCm39) |
L176P |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,776 (GRCm39) |
I17T |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,143,847 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,164 (GRCm39) |
P146S |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,208,099 (GRCm39) |
I4960N |
possibly damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,240 (GRCm39) |
T188A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,483 (GRCm39) |
Y576* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,575 (GRCm39) |
D579G |
possibly damaging |
Het |
| Xpr1 |
T |
C |
1: 155,165,981 (GRCm39) |
N524D |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,871,675 (GRCm39) |
I366L |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,676,159 (GRCm39) |
V386E |
possibly damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,261 (GRCm39) |
L2261Q |
probably damaging |
Het |
| Zpld1 |
C |
G |
16: 55,046,725 (GRCm39) |
E415Q |
probably benign |
Het |
|
| Other mutations in Usp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Usp13
|
APN |
3 |
32,935,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00949:Usp13
|
APN |
3 |
32,940,726 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01637:Usp13
|
APN |
3 |
32,973,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01983:Usp13
|
APN |
3 |
32,971,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Usp13
|
APN |
3 |
32,901,974 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02065:Usp13
|
APN |
3 |
32,987,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Usp13
|
APN |
3 |
32,985,865 (GRCm39) |
nonsense |
probably null |
|
|
IGL02399:Usp13
|
APN |
3 |
32,973,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Usp13
|
APN |
3 |
32,892,075 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02863:Usp13
|
APN |
3 |
32,973,096 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03017:Usp13
|
APN |
3 |
32,969,861 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03242:Usp13
|
APN |
3 |
32,956,218 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4504001:Usp13
|
UTSW |
3 |
32,959,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Usp13
|
UTSW |
3 |
32,872,025 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
|
R0233:Usp13
|
UTSW |
3 |
32,969,813 (GRCm39) |
splice site |
probably null |
|
|
R1241:Usp13
|
UTSW |
3 |
32,969,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Usp13
|
UTSW |
3 |
32,969,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:Usp13
|
UTSW |
3 |
32,956,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2229:Usp13
|
UTSW |
3 |
32,971,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2381:Usp13
|
UTSW |
3 |
32,935,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2389:Usp13
|
UTSW |
3 |
32,959,613 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3801:Usp13
|
UTSW |
3 |
32,935,657 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4062:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Usp13
|
UTSW |
3 |
32,892,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5123:Usp13
|
UTSW |
3 |
32,969,947 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5454:Usp13
|
UTSW |
3 |
32,959,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Usp13
|
UTSW |
3 |
32,965,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Usp13
|
UTSW |
3 |
32,892,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Usp13
|
UTSW |
3 |
32,940,672 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6114:Usp13
|
UTSW |
3 |
32,908,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6625:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6680:Usp13
|
UTSW |
3 |
32,935,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7175:Usp13
|
UTSW |
3 |
32,971,757 (GRCm39) |
nonsense |
probably null |
|
|
R7232:Usp13
|
UTSW |
3 |
32,920,020 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7242:Usp13
|
UTSW |
3 |
32,919,892 (GRCm39) |
splice site |
probably null |
|
|
R7263:Usp13
|
UTSW |
3 |
32,949,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Usp13
|
UTSW |
3 |
32,973,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7716:Usp13
|
UTSW |
3 |
32,892,005 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Usp13
|
UTSW |
3 |
32,892,054 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7943:Usp13
|
UTSW |
3 |
32,931,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Usp13
|
UTSW |
3 |
32,985,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Usp13
|
UTSW |
3 |
32,949,025 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8259:Usp13
|
UTSW |
3 |
32,971,748 (GRCm39) |
nonsense |
probably null |
|
|
R8722:Usp13
|
UTSW |
3 |
32,956,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Usp13
|
UTSW |
3 |
32,935,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Usp13
|
UTSW |
3 |
32,965,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9081:Usp13
|
UTSW |
3 |
32,935,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Usp13
|
UTSW |
3 |
32,955,909 (GRCm39) |
intron |
probably benign |
|
|
R9576:Usp13
|
UTSW |
3 |
32,969,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0064:Usp13
|
UTSW |
3 |
32,940,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGGGGAACAGTAATACCC -3'
(R):5'- TGTACTCACACAACGAAGAGG -3'
Sequencing Primer
(F):5'- CCAGGGTAAGACCACTGGG -3'
(R):5'- TCAGACCTGAGCTGAGACAAAAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation