Incidental Mutation 'R1195:Uspl1'
ID |
197529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
039267-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R1195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149131131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 224
(V224E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
[ENSMUST00000139474]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050472
AA Change: V238E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: V238E
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
AA Change: V238E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000097978 Gene: ENSMUSG00000041264 AA Change: V238E
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
AA Change: V39E
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113176 Gene: ENSMUSG00000041264 AA Change: V39E
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119685
AA Change: V224E
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: V224E
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: V39E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: V39E
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: V238E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: V238E
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 |
probably benign
Transcript: ENSMUST00000139474
AA Change: V39E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201232
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly damaging |
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 |
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 |
R5200:Uspl1
|
UTSW |
5 |
149,150,923 (GRCm39) |
missense |
probably benign |
0.02 |
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'- CTTCTCAGCAAGCTTCCCAGATACC -3'
(R):5'- ACAGTCATGAGCTGTAACTGGCAC -3'
Sequencing Primer
(F):5'- GCTTCCCAGATACCAGTGC -3'
(R):5'- ATGAGCTGTAACTGGCACTATCTC -3'
|
Posted On |
2014-05-23 |