Incidental Mutation 'R5200:Uspl1'
ID |
400672 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R5200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149150923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 708
(S708T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113247
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050472
AA Change: S708T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: S708T
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
213 |
486 |
7e-139 |
PFAM |
Pfam:DUF4650
|
557 |
1087 |
1.9e-213 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100410
|
SMART Domains |
Protein: ENSMUSP00000097978 Gene: ENSMUSG00000041264
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
213 |
486 |
1.4e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117878
|
SMART Domains |
Protein: ENSMUSP00000113176 Gene: ENSMUSG00000041264
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119685
AA Change: S694T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: S694T
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
199 |
472 |
6.9e-139 |
PFAM |
Pfam:DUF4650
|
543 |
1073 |
1.8e-213 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121416
AA Change: S509T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: S509T
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C98
|
14 |
287 |
8.5e-139 |
PFAM |
Pfam:DUF4650
|
358 |
888 |
1.5e-213 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122160
AA Change: S708T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: S708T
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
214 |
486 |
2.5e-125 |
PFAM |
Pfam:DUF4650
|
558 |
1087 |
1e-205 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
Other mutations in Uspl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00478:Uspl1
|
APN |
5 |
149,152,024 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00571:Uspl1
|
APN |
5 |
149,125,170 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01134:Uspl1
|
APN |
5 |
149,141,103 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02222:Uspl1
|
APN |
5 |
149,130,854 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02383:Uspl1
|
APN |
5 |
149,150,212 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02538:Uspl1
|
APN |
5 |
149,125,269 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Uspl1
|
APN |
5 |
149,141,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02585:Uspl1
|
APN |
5 |
149,150,872 (GRCm39) |
nonsense |
probably null |
|
IGL02971:Uspl1
|
APN |
5 |
149,125,156 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0020:Uspl1
|
UTSW |
5 |
149,146,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Uspl1
|
UTSW |
5 |
149,146,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Uspl1
|
UTSW |
5 |
149,125,159 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0433:Uspl1
|
UTSW |
5 |
149,151,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Uspl1
|
UTSW |
5 |
149,124,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Uspl1
|
UTSW |
5 |
149,151,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1465:Uspl1
|
UTSW |
5 |
149,150,842 (GRCm39) |
missense |
probably benign |
0.12 |
R1465:Uspl1
|
UTSW |
5 |
149,150,842 (GRCm39) |
missense |
probably benign |
0.12 |
R1623:Uspl1
|
UTSW |
5 |
149,152,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Uspl1
|
UTSW |
5 |
149,138,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Uspl1
|
UTSW |
5 |
149,150,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1823:Uspl1
|
UTSW |
5 |
149,151,224 (GRCm39) |
missense |
probably benign |
0.25 |
R2088:Uspl1
|
UTSW |
5 |
149,146,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R2099:Uspl1
|
UTSW |
5 |
149,151,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Uspl1
|
UTSW |
5 |
149,124,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R2944:Uspl1
|
UTSW |
5 |
149,138,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3437:Uspl1
|
UTSW |
5 |
149,151,507 (GRCm39) |
utr 3 prime |
probably benign |
|
R4132:Uspl1
|
UTSW |
5 |
149,141,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R4458:Uspl1
|
UTSW |
5 |
149,150,962 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4537:Uspl1
|
UTSW |
5 |
149,124,588 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4623:Uspl1
|
UTSW |
5 |
149,151,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R4633:Uspl1
|
UTSW |
5 |
149,151,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Uspl1
|
UTSW |
5 |
149,131,149 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4743:Uspl1
|
UTSW |
5 |
149,146,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5222:Uspl1
|
UTSW |
5 |
149,150,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5337:Uspl1
|
UTSW |
5 |
149,151,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R5496:Uspl1
|
UTSW |
5 |
149,146,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Uspl1
|
UTSW |
5 |
149,146,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5845:Uspl1
|
UTSW |
5 |
149,130,770 (GRCm39) |
missense |
probably benign |
0.01 |
R6266:Uspl1
|
UTSW |
5 |
149,141,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Uspl1
|
UTSW |
5 |
149,151,097 (GRCm39) |
missense |
probably benign |
0.40 |
R6338:Uspl1
|
UTSW |
5 |
149,151,844 (GRCm39) |
missense |
probably benign |
0.03 |
R6774:Uspl1
|
UTSW |
5 |
149,150,904 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Uspl1
|
UTSW |
5 |
149,124,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Uspl1
|
UTSW |
5 |
149,130,745 (GRCm39) |
missense |
probably benign |
0.00 |
R7152:Uspl1
|
UTSW |
5 |
149,124,588 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7446:Uspl1
|
UTSW |
5 |
149,141,082 (GRCm39) |
nonsense |
probably null |
|
R7661:Uspl1
|
UTSW |
5 |
149,151,827 (GRCm39) |
missense |
probably benign |
0.15 |
R8095:Uspl1
|
UTSW |
5 |
149,150,992 (GRCm39) |
nonsense |
probably null |
|
R8126:Uspl1
|
UTSW |
5 |
149,151,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Uspl1
|
UTSW |
5 |
149,135,491 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8479:Uspl1
|
UTSW |
5 |
149,152,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R8926:Uspl1
|
UTSW |
5 |
149,138,701 (GRCm39) |
critical splice donor site |
probably null |
|
R9140:Uspl1
|
UTSW |
5 |
149,150,290 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9178:Uspl1
|
UTSW |
5 |
149,141,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R9196:Uspl1
|
UTSW |
5 |
149,151,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9359:Uspl1
|
UTSW |
5 |
149,146,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9384:Uspl1
|
UTSW |
5 |
149,151,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9608:Uspl1
|
UTSW |
5 |
149,151,870 (GRCm39) |
missense |
probably benign |
0.17 |
X0019:Uspl1
|
UTSW |
5 |
149,151,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCCCATCCCAAGCTGTGAG -3'
(R):5'- TGCAGGTCACTTACTGCTCTAC -3'
Sequencing Primer
(F):5'- TGTGAGCACAGACCTGCAG -3'
(R):5'- TCTACTCTGAGACAAAACACAGGTTG -3'
|
Posted On |
2016-07-06 |