Incidental Mutation 'IGL00478:Uspl1'
| ID | 6381 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Uspl1
|
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| Ensembl Gene |
ENSMUSG00000041264 |
|---|
| Gene Name | ubiquitin specific peptidase like 1 |
|---|
| Synonyms | E430026A01Rik |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably essential (E-score: 0.957)
|
|---|
| Stock # | IGL00478
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 5 |
|---|
| Chromosomal Location | 149184350-149215434 bp(+) (GRCm38) |
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| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 149215214 bp
|
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| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Threonine to Serine
at position 1075
(T1075S)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000113247
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050472
AA Change: T1075S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: T1075S
| 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 |
possibly damaging
Transcript: ENSMUST00000119685
AA Change: T1061S
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: T1061S
| 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 |
possibly damaging
Transcript: ENSMUST00000121416
AA Change: T876S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: T876S
| 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 |
possibly damaging
Transcript: ENSMUST00000122160
AA Change: T1075S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: T1075S
| 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
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars |
A |
G |
8: 111,047,972 |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,068,186 |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,046,639 |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,307,226 |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,887,485 |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,357,062 |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,160,601 |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 |
D488G |
probably benign |
Het |
| Dpf1 |
G |
T |
7: 29,316,556 |
|
probably benign |
Het |
| Fga |
T |
A |
3: 83,028,644 |
D59E |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,057,965 |
H175Q |
probably benign |
Het |
| Glyat |
T |
C |
19: 12,648,133 |
|
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,278,745 |
V312A |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,801,115 |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,441,788 |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,633,274 |
D259G |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 |
G30E |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,680,268 |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,197,465 |
E41G |
probably damaging |
Het |
|
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| Other mutations in Uspl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Uspl1
|
APN |
5 |
149188360 |
missense |
probably damaging |
0.99 |
|
IGL01134:Uspl1
|
APN |
5 |
149204293 |
missense |
probably damaging |
1.00 |
|
IGL02222:Uspl1
|
APN |
5 |
149194044 |
missense |
probably benign |
0.25 |
|
IGL02383:Uspl1
|
APN |
5 |
149213402 |
missense |
probably damaging |
0.98 |
|
IGL02538:Uspl1
|
APN |
5 |
149188459 |
missense |
probably damaging |
1.00 |
|
IGL02546:Uspl1
|
APN |
5 |
149204304 |
missense |
possibly damaging |
0.95 |
|
IGL02585:Uspl1
|
APN |
5 |
149214062 |
nonsense |
probably null |
|
|
IGL02971:Uspl1
|
APN |
5 |
149188346 |
missense |
possibly damaging |
0.84 |
|
R0020:Uspl1
|
UTSW |
5 |
149209779 |
missense |
probably damaging |
1.00 |
|
R0070:Uspl1
|
UTSW |
5 |
149209705 |
missense |
probably damaging |
1.00 |
|
R0142:Uspl1
|
UTSW |
5 |
149188349 |
missense |
possibly damaging |
0.68 |
|
R0433:Uspl1
|
UTSW |
5 |
149214815 |
missense |
probably damaging |
1.00 |
|
R0554:Uspl1
|
UTSW |
5 |
149187834 |
missense |
probably damaging |
1.00 |
|
R0612:Uspl1
|
UTSW |
5 |
149214957 |
missense |
probably damaging |
1.00 |
|
R1195:Uspl1
|
UTSW |
5 |
149194321 |
missense |
probably benign |
0.24 |
|
R1195:Uspl1
|
UTSW |
5 |
149194321 |
missense |
probably benign |
0.24 |
|
R1195:Uspl1
|
UTSW |
5 |
149194321 |
missense |
probably benign |
0.24 |
|
R1465:Uspl1
|
UTSW |
5 |
149214032 |
missense |
probably benign |
0.12 |
|
R1465:Uspl1
|
UTSW |
5 |
149214032 |
missense |
probably benign |
0.12 |
|
R1623:Uspl1
|
UTSW |
5 |
149215199 |
missense |
probably damaging |
1.00 |
|
R1737:Uspl1
|
UTSW |
5 |
149201858 |
missense |
probably damaging |
1.00 |
|
R1793:Uspl1
|
UTSW |
5 |
149213436 |
missense |
probably damaging |
1.00 |
|
R1823:Uspl1
|
UTSW |
5 |
149214414 |
missense |
probably benign |
0.25 |
|
R2088:Uspl1
|
UTSW |
5 |
149209750 |
missense |
probably damaging |
1.00 |
|
R2099:Uspl1
|
UTSW |
5 |
149214758 |
missense |
probably damaging |
1.00 |
|
R2497:Uspl1
|
UTSW |
5 |
149187854 |
missense |
probably damaging |
0.98 |
|
R2944:Uspl1
|
UTSW |
5 |
149201796 |
missense |
probably damaging |
1.00 |
|
R3437:Uspl1
|
UTSW |
5 |
149214697 |
utr 3 prime |
probably benign |
|
|
R4132:Uspl1
|
UTSW |
5 |
149204349 |
missense |
probably damaging |
0.99 |
|
R4458:Uspl1
|
UTSW |
5 |
149214152 |
missense |
possibly damaging |
0.82 |
|
R4537:Uspl1
|
UTSW |
5 |
149187778 |
missense |
possibly damaging |
0.66 |
|
R4623:Uspl1
|
UTSW |
5 |
149214595 |
missense |
probably damaging |
0.99 |
|
R4633:Uspl1
|
UTSW |
5 |
149214392 |
missense |
probably damaging |
1.00 |
|
R4737:Uspl1
|
UTSW |
5 |
149194339 |
missense |
possibly damaging |
0.86 |
|
R4743:Uspl1
|
UTSW |
5 |
149209756 |
missense |
probably damaging |
1.00 |
|
R5200:Uspl1
|
UTSW |
5 |
149214113 |
missense |
probably benign |
0.02 |
|
R5222:Uspl1
|
UTSW |
5 |
149214101 |
missense |
possibly damaging |
0.77 |
|
R5337:Uspl1
|
UTSW |
5 |
149214746 |
missense |
probably damaging |
0.99 |
|
R5496:Uspl1
|
UTSW |
5 |
149209779 |
missense |
probably damaging |
1.00 |
|
R5654:Uspl1
|
UTSW |
5 |
149209711 |
missense |
probably damaging |
1.00 |
|
R5845:Uspl1
|
UTSW |
5 |
149193960 |
missense |
probably benign |
0.01 |
|
R6266:Uspl1
|
UTSW |
5 |
149204366 |
missense |
probably damaging |
1.00 |
|
R6331:Uspl1
|
UTSW |
5 |
149214287 |
missense |
probably benign |
0.40 |
|
R6338:Uspl1
|
UTSW |
5 |
149215034 |
missense |
probably benign |
0.03 |
|
R6774:Uspl1
|
UTSW |
5 |
149214094 |
missense |
probably benign |
0.00 |
|
R6855:Uspl1
|
UTSW |
5 |
149187845 |
missense |
probably damaging |
1.00 |
|
R7131:Uspl1
|
UTSW |
5 |
149193935 |
missense |
probably benign |
0.00 |
|
R7152:Uspl1
|
UTSW |
5 |
149187778 |
missense |
possibly damaging |
0.66 |
|
R7446:Uspl1
|
UTSW |
5 |
149204272 |
nonsense |
probably null |
|
|
R7661:Uspl1
|
UTSW |
5 |
149215017 |
missense |
probably benign |
0.15 |
|
X0019:Uspl1
|
UTSW |
5 |
149214267 |
missense |
probably damaging |
1.00 |
|
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| Posted On | 2012-04-20 |
|---|
