Incidental Mutation 'PIT4504001:Usp13'
| ID |
555994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp13
|
| Ensembl Gene |
ENSMUSG00000056900 |
| Gene Name |
ubiquitin specific peptidase 13 (isopeptidase T-3) |
| Synonyms |
ISOT3, 2700071E21Rik, IsoT-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32817546-32938071 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32905430 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 557
(S557R)
|
| 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: S557R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: S557R
| 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: S556R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: S556R
| 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 |
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,717,192 |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,559,352 |
P1312S |
probably damaging |
Het |
| Als2cr12 |
T |
A |
1: 58,659,099 |
I348F |
probably benign |
Het |
| Arid5a |
T |
C |
1: 36,317,625 |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 136,100,419 |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 55,883,499 |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,964,216 |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,801,009 |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 131,309,800 |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,534,011 |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 61,958,113 |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,040,004 |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,739,883 |
V154F |
possibly damaging |
Het |
| Ect2 |
G |
A |
3: 27,126,948 |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,058,822 |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,256,110 |
G4020D |
possibly damaging |
Het |
| Galnt16 |
G |
T |
12: 80,592,417 |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,625,823 |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,236,916 |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,001,458 |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 117,975,875 |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 27,001,881 |
D140E |
probably benign |
Het |
| Hfe2 |
A |
T |
3: 96,528,497 |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,663,097 |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,952,739 |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,041,935 |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,229,871 |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,579,027 |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,475,403 |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,608,537 |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 104,015,526 |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,774,087 |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 45,698,221 |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,224,879 |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,133,122 |
I574N |
probably damaging |
Het |
| Olfr133 |
A |
G |
17: 38,149,169 |
T194A |
probably benign |
Het |
| Olfr175-ps1 |
T |
A |
16: 58,824,308 |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,234,494 |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,166,130 |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,743,390 |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,209,985 |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,397,460 |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,742,331 |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,103,110 |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,293,657 |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,886,051 |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,306,682 |
S715P |
unknown |
Het |
| Usp19 |
T |
A |
9: 108,492,970 |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,715,976 |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,198,621 |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,476,881 |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,158 |
E838G |
possibly damaging |
Het |
|
| Other mutations in Usp13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Usp13
|
APN |
3 |
32,881,411 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00949:Usp13
|
APN |
3 |
32,886,577 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL01637:Usp13
|
APN |
3 |
32,919,064 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01983:Usp13
|
APN |
3 |
32,917,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02002:Usp13
|
APN |
3 |
32,847,825 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02065:Usp13
|
APN |
3 |
32,933,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02390:Usp13
|
APN |
3 |
32,931,716 (GRCm38) |
nonsense |
probably null |
|
|
IGL02399:Usp13
|
APN |
3 |
32,919,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02535:Usp13
|
APN |
3 |
32,837,926 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02863:Usp13
|
APN |
3 |
32,918,947 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03017:Usp13
|
APN |
3 |
32,915,712 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL03242:Usp13
|
APN |
3 |
32,902,069 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0113:Usp13
|
UTSW |
3 |
32,817,876 (GRCm38) |
splice site |
probably benign |
|
|
R0233:Usp13
|
UTSW |
3 |
32,915,664 (GRCm38) |
splice site |
probably null |
|
|
R0233:Usp13
|
UTSW |
3 |
32,915,664 (GRCm38) |
splice site |
probably null |
|
|
R1241:Usp13
|
UTSW |
3 |
32,915,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1765:Usp13
|
UTSW |
3 |
32,915,770 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2105:Usp13
|
UTSW |
3 |
32,901,986 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2229:Usp13
|
UTSW |
3 |
32,917,551 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2381:Usp13
|
UTSW |
3 |
32,881,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2389:Usp13
|
UTSW |
3 |
32,905,464 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3801:Usp13
|
UTSW |
3 |
32,881,508 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4062:Usp13
|
UTSW |
3 |
32,881,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4653:Usp13
|
UTSW |
3 |
32,837,924 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5123:Usp13
|
UTSW |
3 |
32,915,798 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5454:Usp13
|
UTSW |
3 |
32,905,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5527:Usp13
|
UTSW |
3 |
32,865,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5582:Usp13
|
UTSW |
3 |
32,911,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5589:Usp13
|
UTSW |
3 |
32,837,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5829:Usp13
|
UTSW |
3 |
32,886,523 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6114:Usp13
|
UTSW |
3 |
32,854,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6625:Usp13
|
UTSW |
3 |
32,894,876 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6680:Usp13
|
UTSW |
3 |
32,881,469 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7175:Usp13
|
UTSW |
3 |
32,917,608 (GRCm38) |
nonsense |
probably null |
|
|
R7232:Usp13
|
UTSW |
3 |
32,865,871 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7242:Usp13
|
UTSW |
3 |
32,865,743 (GRCm38) |
splice site |
probably null |
|
|
R7263:Usp13
|
UTSW |
3 |
32,894,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7533:Usp13
|
UTSW |
3 |
32,918,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7716:Usp13
|
UTSW |
3 |
32,837,856 (GRCm38) |
nonsense |
probably null |
|
|
R7734:Usp13
|
UTSW |
3 |
32,837,905 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7943:Usp13
|
UTSW |
3 |
32,876,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8075:Usp13
|
UTSW |
3 |
32,931,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8141:Usp13
|
UTSW |
3 |
32,894,876 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8259:Usp13
|
UTSW |
3 |
32,917,599 (GRCm38) |
nonsense |
probably null |
|
|
R8722:Usp13
|
UTSW |
3 |
32,901,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8905:Usp13
|
UTSW |
3 |
32,881,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9060:Usp13
|
UTSW |
3 |
32,911,663 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9081:Usp13
|
UTSW |
3 |
32,881,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9260:Usp13
|
UTSW |
3 |
32,901,760 (GRCm38) |
intron |
probably benign |
|
|
R9576:Usp13
|
UTSW |
3 |
32,914,986 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
X0064:Usp13
|
UTSW |
3 |
32,886,589 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTGATTGCAGGTTCCTG -3'
(R):5'- TGTCTTACTGGTCAGCCTTAGC -3'
Sequencing Primer
(F):5'- AGGTTCCTGCCTTCCCTG -3'
(R):5'- ACTGGTCAGCCTTAGCAAGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation