Incidental Mutation 'R1737:Uspl1'
| ID |
199769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
039769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R1737 (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 149138668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 349
(C349S)
|
| 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: C349S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: C349S
| 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: C349S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: C349S
| 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 |
possibly damaging
Transcript: ENSMUST00000117878
AA Change: C150S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: C150S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119685
AA Change: C335S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: C335S
| 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 damaging
Transcript: ENSMUST00000121416
AA Change: C150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: C150S
| 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: C349S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: C349S
| 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
|
| Meta Mutation Damage Score |
0.9181 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.4%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
G |
A |
12: 105,708,591 (GRCm39) |
V349M |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,192,453 (GRCm39) |
E436V |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,450,075 (GRCm39) |
P2290T |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,476,986 (GRCm39) |
|
probably benign |
Het |
| Bahd1 |
T |
C |
2: 118,746,404 (GRCm39) |
S8P |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,862,677 (GRCm39) |
Y28H |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 18,964,149 (GRCm39) |
I104F |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,703,061 (GRCm39) |
D508G |
possibly damaging |
Het |
| Ces2a |
G |
T |
8: 105,467,456 (GRCm39) |
A494S |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,553 (GRCm39) |
T123M |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,474,904 (GRCm39) |
S1102P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,610,733 (GRCm39) |
D224Y |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,208,357 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,848 (GRCm39) |
T122S |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,857,000 (GRCm39) |
|
probably null |
Het |
| Eid2 |
T |
C |
7: 27,967,924 (GRCm39) |
V182A |
possibly damaging |
Het |
| Eloa |
A |
T |
4: 135,738,081 (GRCm39) |
V293D |
probably benign |
Het |
| Enkur |
G |
A |
2: 21,199,106 (GRCm39) |
P143S |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,510,548 (GRCm39) |
Y99H |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,596 (GRCm39) |
L66I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,110,928 (GRCm39) |
R985S |
unknown |
Het |
| Fscb |
A |
T |
12: 64,521,355 (GRCm39) |
I37K |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,679,296 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Q7 |
A |
C |
17: 35,658,602 (GRCm39) |
Y80S |
probably damaging |
Het |
| H60c |
A |
T |
10: 3,209,914 (GRCm39) |
D124E |
possibly damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,862 (GRCm39) |
V361E |
probably damaging |
Het |
| Ice1 |
A |
C |
13: 70,754,444 (GRCm39) |
C547W |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,945,289 (GRCm39) |
D670V |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,635,303 (GRCm39) |
V171A |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,783 (GRCm39) |
Q114L |
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,278,213 (GRCm39) |
M280T |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,109,916 (GRCm39) |
R2179Q |
probably benign |
Het |
| Mbd3l1 |
C |
T |
9: 18,396,225 (GRCm39) |
P117S |
possibly damaging |
Het |
| Med18 |
A |
T |
4: 132,187,420 (GRCm39) |
S71R |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,895,607 (GRCm39) |
I643N |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,416,826 (GRCm39) |
K70E |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,634,958 (GRCm39) |
S20R |
probably benign |
Het |
| Nr6a1 |
A |
T |
2: 38,628,955 (GRCm39) |
F356L |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,978,533 (GRCm39) |
R567H |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,045 (GRCm39) |
S91G |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,911 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,179,637 (GRCm39) |
L55P |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,697 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,338,254 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,009 (GRCm39) |
T362A |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,404 (GRCm39) |
V59E |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,905 (GRCm39) |
|
probably null |
Het |
| Prr36 |
T |
C |
8: 4,264,370 (GRCm39) |
|
probably benign |
Het |
| Ptger2 |
A |
G |
14: 45,239,228 (GRCm39) |
T289A |
probably benign |
Het |
| Rad18 |
A |
G |
6: 112,658,498 (GRCm39) |
F136L |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,153,181 (GRCm39) |
S258C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,739 (GRCm39) |
I34M |
possibly damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,162 (GRCm39) |
T135K |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,035,582 (GRCm39) |
I193M |
probably damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,023,504 (GRCm39) |
V47I |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,094,766 (GRCm39) |
V786M |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,193,875 (GRCm39) |
L350P |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,681 (GRCm39) |
F576I |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,924,598 (GRCm39) |
V496E |
probably benign |
Het |
| Tcl1b3 |
C |
A |
12: 105,157,481 (GRCm39) |
S41Y |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,169,201 (GRCm39) |
N256I |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,070,604 (GRCm39) |
I730T |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,060 (GRCm39) |
F85I |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,710,403 (GRCm39) |
T709A |
probably benign |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
probably 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 |
|
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 |
|
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'- CGCTTGTGACCAACTCTGATGTGAC -3'
(R):5'- AAGTTCTCCCTGAGCTATTGCAACC -3'
Sequencing Primer
(F):5'- AGGACTTTCTCCTGAGGACAG -3'
(R):5'- CTGAGCTATTGCAACCTTGTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation