Incidental Mutation 'R5454:Usp13'
| ID |
432657 |
| 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 |
043018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32959585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 559
(A559S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: A559S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: A559S
| 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: A558S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: A558S
| 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 benign
Transcript: ENSMUST00000172481
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
| 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 |
|
| Meta Mutation Damage Score |
0.2273 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,051,041 (GRCm39) |
|
noncoding transcript |
Het |
| Ankfy1 |
A |
T |
11: 72,637,757 (GRCm39) |
H483L |
probably benign |
Het |
| Ankrd46 |
C |
T |
15: 36,479,447 (GRCm39) |
G215R |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,558,327 (GRCm39) |
I143V |
probably benign |
Het |
| Atp2b4 |
C |
A |
1: 133,657,610 (GRCm39) |
V627F |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,947,588 (GRCm39) |
Y855* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,975,396 (GRCm39) |
E88G |
probably damaging |
Het |
| Ceacam14 |
T |
G |
7: 17,548,110 (GRCm39) |
W67G |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,757,306 (GRCm39) |
V50A |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 38,987,759 (GRCm39) |
D168E |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,391,576 (GRCm39) |
M55R |
probably damaging |
Het |
| Enpp7 |
A |
T |
11: 118,879,634 (GRCm39) |
Y96F |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,584,327 (GRCm39) |
D60G |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,880,642 (GRCm39) |
|
probably benign |
Het |
| Frzb |
T |
C |
2: 80,248,259 (GRCm39) |
D280G |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,920,610 (GRCm39) |
I317V |
probably benign |
Het |
| Gm13030 |
A |
T |
4: 138,600,820 (GRCm39) |
|
probably benign |
Het |
| Gmds |
A |
G |
13: 32,312,024 (GRCm39) |
L135P |
probably damaging |
Het |
| Htra2 |
G |
A |
6: 83,030,995 (GRCm39) |
P138L |
probably damaging |
Het |
| Il5 |
A |
G |
11: 53,614,626 (GRCm39) |
N89S |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,315,834 (GRCm39) |
T310M |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,804 (GRCm39) |
I777V |
probably null |
Het |
| Kctd9 |
T |
C |
14: 67,977,836 (GRCm39) |
L382S |
probably damaging |
Het |
| Loricrin |
A |
G |
3: 91,988,789 (GRCm39) |
S166P |
unknown |
Het |
| Mga |
T |
A |
2: 119,733,810 (GRCm39) |
N219K |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,501,868 (GRCm39) |
R641* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,235,078 (GRCm39) |
A611T |
possibly damaging |
Het |
| Obox3-ps8 |
A |
T |
17: 36,763,903 (GRCm39) |
|
noncoding transcript |
Het |
| Or5p54 |
A |
T |
7: 107,554,096 (GRCm39) |
M83L |
probably benign |
Het |
| Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,899,314 (GRCm39) |
S49T |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,549 (GRCm39) |
D650G |
probably damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,516,509 (GRCm39) |
V167A |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,225,381 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
T |
19: 4,652,504 (GRCm39) |
V164F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,102,745 (GRCm39) |
|
probably null |
Het |
| Pmch |
A |
G |
10: 87,927,707 (GRCm39) |
E136G |
probably damaging |
Het |
| Prkar1a |
A |
G |
11: 109,550,886 (GRCm39) |
D80G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,560,647 (GRCm39) |
|
probably null |
Het |
| Slc10a7 |
T |
C |
8: 79,413,253 (GRCm39) |
S171P |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,301,008 (GRCm39) |
M153K |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,475 (GRCm39) |
I946V |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,535,495 (GRCm39) |
E71G |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,446 (GRCm39) |
D1025G |
unknown |
Het |
| Tnxb |
A |
G |
17: 34,928,599 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,205,439 (GRCm39) |
D649V |
possibly damaging |
Het |
| Vps45 |
G |
A |
3: 95,926,969 (GRCm39) |
P526L |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,457 (GRCm39) |
V855A |
probably damaging |
Het |
| Zfp771 |
T |
A |
7: 126,853,448 (GRCm39) |
C205S |
probably damaging |
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 |
|
R5527:Usp13
|
UTSW |
3 |
32,919,987 (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'- ATGCACTTTCCCAGAGGGTG -3'
(R):5'- AAGGGCAGCTACAGATGTATATC -3'
Sequencing Primer
(F):5'- ACTTTCCCAGAGGGTGTGACTC -3'
(R):5'- GGGCAGCTACAGATGTATATCACAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation