Incidental Mutation 'IGL02383:Uspl1'
| ID |
291473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 149150212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 471
(V471M)
|
| 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 damaging
Transcript: ENSMUST00000050472
AA Change: V471M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: V471M
| 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 damaging
Transcript: ENSMUST00000100410
AA Change: V471M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: V471M
| 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: V272M
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: V272M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119685
AA Change: V457M
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: V457M
| 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: V272M
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: V272M
| 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 damaging
Transcript: ENSMUST00000122160
AA Change: V471M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: V471M
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
| Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
| Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
| Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
| Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
| Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
| Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
| H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
| Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
| Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
| Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
| Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
| Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
| Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
| Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
| Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
| Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
| Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
| Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation