Incidental Mutation 'R5589:Usp13'
| ID |
437333 |
| 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 |
043142-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5589 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32871695-32992220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32892007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 62
(V62A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072312]
[ENSMUST00000108228]
[ENSMUST00000172481]
|
| AlphaFold |
Q5BKP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072312
AA Change: V62A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: V62A
| 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: V62A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: V62A
| 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: V62A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: V62A
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,066 (GRCm39) |
M76L |
probably benign |
Het |
| Adrm1b |
T |
A |
3: 92,336,112 (GRCm39) |
|
probably benign |
Het |
| Alg1 |
T |
A |
16: 5,053,086 (GRCm39) |
W116R |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,340 (GRCm39) |
S33T |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,400 (GRCm39) |
E556G |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,480,597 (GRCm39) |
I2761K |
possibly damaging |
Het |
| Ccdc68 |
G |
A |
18: 70,079,577 (GRCm39) |
G141E |
probably benign |
Het |
| Cckbr |
T |
C |
7: 105,083,732 (GRCm39) |
V220A |
probably damaging |
Het |
| Ccnd3 |
G |
A |
17: 47,909,544 (GRCm39) |
R45Q |
probably damaging |
Het |
| Cdh24 |
G |
T |
14: 54,874,832 (GRCm39) |
T391N |
probably damaging |
Het |
| Cldn11 |
A |
G |
3: 31,204,395 (GRCm39) |
T33A |
probably damaging |
Het |
| Clec2e |
T |
A |
6: 129,075,391 (GRCm39) |
Y50F |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,075,944 (GRCm39) |
N943D |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,484 (GRCm39) |
R177G |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,813,665 (GRCm39) |
V70A |
probably damaging |
Het |
| Gm14496 |
C |
A |
2: 181,637,674 (GRCm39) |
Y249* |
probably null |
Het |
| Gmnc |
T |
A |
16: 26,781,714 (GRCm39) |
H105L |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,219,740 (GRCm39) |
Y62C |
probably damaging |
Het |
| Ift80 |
T |
C |
3: 68,838,233 (GRCm39) |
R413G |
probably damaging |
Het |
| Kctd16 |
C |
A |
18: 40,392,061 (GRCm39) |
D216E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,743,864 (GRCm39) |
V873A |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,039,117 (GRCm39) |
Q92K |
probably benign |
Het |
| L1td1 |
C |
A |
4: 98,626,341 (GRCm39) |
N845K |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,605,277 (GRCm39) |
T1077I |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,429,751 (GRCm39) |
I230T |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,399,819 (GRCm39) |
N160S |
probably damaging |
Het |
| Lyzl4 |
G |
A |
9: 121,413,469 (GRCm39) |
R24C |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,794,488 (GRCm39) |
N658S |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,566,275 (GRCm39) |
I377T |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,238,243 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,548,414 (GRCm39) |
T58A |
possibly damaging |
Het |
| Myo9a |
C |
T |
9: 59,802,527 (GRCm39) |
Q2005* |
probably null |
Het |
| Neu3 |
G |
T |
7: 99,472,636 (GRCm39) |
P34T |
probably benign |
Het |
| Nlrp4b |
G |
A |
7: 10,449,512 (GRCm39) |
V205I |
probably benign |
Het |
| Or4b1b |
C |
T |
2: 90,112,313 (GRCm39) |
G202D |
probably damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,850 (GRCm39) |
N191S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,334 (GRCm39) |
S171T |
probably benign |
Het |
| Or5t15 |
A |
G |
2: 86,681,118 (GRCm39) |
I308T |
unknown |
Het |
| Or6c66 |
T |
G |
10: 129,461,319 (GRCm39) |
T204P |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,691 (GRCm39) |
T110A |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,578,933 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
G |
7: 116,016,893 (GRCm39) |
V288A |
probably benign |
Het |
| Plcd3 |
T |
C |
11: 102,968,629 (GRCm39) |
D354G |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,524,655 (GRCm39) |
N1219K |
probably benign |
Het |
| Prl3d1 |
T |
A |
13: 27,278,927 (GRCm39) |
Y41N |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,332,234 (GRCm39) |
G2321R |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,886 (GRCm39) |
I94V |
probably benign |
Het |
| Serinc1 |
C |
A |
10: 57,399,262 (GRCm39) |
V214L |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,967,728 (GRCm39) |
N222K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,747,956 (GRCm39) |
Y429H |
probably damaging |
Het |
| Smyd1 |
C |
T |
6: 71,239,164 (GRCm39) |
V9M |
probably damaging |
Het |
| Sostdc1 |
C |
T |
12: 36,367,246 (GRCm39) |
Q141* |
probably null |
Het |
| Spam1 |
C |
T |
6: 24,796,109 (GRCm39) |
T20I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,354,834 (GRCm39) |
V5A |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,912,582 (GRCm39) |
|
probably null |
Het |
| Trim45 |
C |
T |
3: 100,837,257 (GRCm39) |
P531L |
probably damaging |
Het |
| Tshb |
A |
T |
3: 102,685,478 (GRCm39) |
Y50* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,320 (GRCm39) |
I19230V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uba6 |
G |
A |
5: 86,270,288 (GRCm39) |
T832I |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,960,579 (GRCm39) |
V497D |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,189 (GRCm39) |
L76F |
probably damaging |
Het |
| Vmn1r215 |
G |
T |
13: 23,260,190 (GRCm39) |
G77C |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,722,594 (GRCm39) |
D828G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,633,990 (GRCm39) |
C573S |
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 |
|
R5454:Usp13
|
UTSW |
3 |
32,959,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AAGCCATCTTCGGTTCTGGC -3'
(R):5'- AGGAAGCTCTGAGAGTCTGCAC -3'
Sequencing Primer
(F):5'- CGGTTCTGGCAAATACCTATGAG -3'
(R):5'- GCTGCTGCAATTTCCTGTCATTAAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation