Incidental Mutation 'R1623:Uspl1'
| ID |
174781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
039660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R1623 (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 C
at 149152009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1056
(S1056P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050472
AA Change: S1070P
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: S1070P
| 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 damaging
Transcript: ENSMUST00000119685
AA Change: S1056P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: S1056P
| 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: S871P
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: S871P
| 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: S1070P
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: S1070P
| 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: 99.0%
- 3x: 98.0%
- 10x: 94.9%
- 20x: 87.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
T |
2: 22,984,356 (GRCm39) |
D294V |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,355,320 (GRCm39) |
I21N |
probably benign |
Het |
| Adamts2 |
C |
A |
11: 50,558,942 (GRCm39) |
P219H |
possibly damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,939,113 (GRCm39) |
F584L |
probably benign |
Het |
| Ccdc81 |
C |
T |
7: 89,535,390 (GRCm39) |
R282Q |
probably benign |
Het |
| Ccn4 |
G |
T |
15: 66,763,448 (GRCm39) |
V12L |
possibly damaging |
Het |
| Cd200r3 |
G |
A |
16: 44,771,811 (GRCm39) |
C25Y |
possibly damaging |
Het |
| Cdkl4 |
C |
T |
17: 80,863,731 (GRCm39) |
|
probably null |
Het |
| Chrne |
T |
C |
11: 70,509,254 (GRCm39) |
E109G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,856 (GRCm39) |
T358A |
probably benign |
Het |
| Cmtr1 |
G |
T |
17: 29,906,021 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,343,699 (GRCm39) |
E389G |
probably damaging |
Het |
| Ctc1 |
C |
T |
11: 68,911,968 (GRCm39) |
T49M |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,687,127 (GRCm39) |
M120K |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 103,983,308 (GRCm39) |
E1996V |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,928,463 (GRCm39) |
M2069V |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,408,234 (GRCm39) |
Y428H |
probably damaging |
Het |
| Exosc8 |
T |
A |
3: 54,641,752 (GRCm39) |
T7S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,023,191 (GRCm39) |
Y1583C |
probably damaging |
Het |
| Fam178b |
A |
G |
1: 36,683,405 (GRCm39) |
I105T |
probably damaging |
Het |
| Fam181a |
T |
A |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
| Fbn2 |
G |
T |
18: 58,181,620 (GRCm39) |
N1880K |
possibly damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,988 (GRCm39) |
M209L |
probably benign |
Het |
| Gkn2 |
C |
A |
6: 87,355,152 (GRCm39) |
Y120* |
probably null |
Het |
| Gm14295 |
T |
A |
2: 176,499,157 (GRCm39) |
D1E |
probably damaging |
Het |
| Gpr141 |
A |
T |
13: 19,936,082 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
C |
A |
18: 56,565,423 (GRCm39) |
P26Q |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,724,771 (GRCm39) |
I1801T |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,875,151 (GRCm39) |
I64F |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,751,779 (GRCm39) |
Y324C |
probably benign |
Het |
| Hal |
C |
G |
10: 93,352,159 (GRCm39) |
T650R |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,706,285 (GRCm39) |
Q293* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,591 (GRCm39) |
N437K |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,862 (GRCm39) |
D248G |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,901 (GRCm39) |
S406P |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,348,051 (GRCm39) |
D4899V |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,381,157 (GRCm39) |
|
probably null |
Het |
| Inka2 |
G |
A |
3: 105,624,136 (GRCm39) |
G151D |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,882,142 (GRCm39) |
Y819* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,555 (GRCm39) |
D189G |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,687,500 (GRCm39) |
Y450C |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,993,068 (GRCm39) |
L15P |
probably benign |
Het |
| Mical1 |
T |
G |
10: 41,357,389 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
T |
6: 121,001,768 (GRCm39) |
V575M |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,310,547 (GRCm39) |
|
probably null |
Het |
| Mocs2 |
G |
A |
13: 114,961,158 (GRCm39) |
E52K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,133,104 (GRCm39) |
N415S |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,368,624 (GRCm39) |
T555I |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,358,165 (GRCm39) |
D1686G |
probably benign |
Het |
| Oit3 |
A |
G |
10: 59,264,061 (GRCm39) |
F358L |
probably damaging |
Het |
| Or10x1 |
A |
C |
1: 174,196,515 (GRCm39) |
I11L |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,883 (GRCm39) |
D191V |
probably damaging |
Het |
| Orai1 |
T |
A |
5: 123,167,265 (GRCm39) |
I146N |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,996,511 (GRCm39) |
I142V |
probably benign |
Het |
| Pdap1 |
C |
T |
5: 145,069,739 (GRCm39) |
V89M |
possibly damaging |
Het |
| Phf11a |
T |
C |
14: 59,525,000 (GRCm39) |
D68G |
possibly damaging |
Het |
| Pilrb2 |
T |
C |
5: 137,869,510 (GRCm39) |
N30S |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,797,243 (GRCm39) |
V2551I |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,942,611 (GRCm39) |
V132A |
probably damaging |
Het |
| Prr35 |
G |
A |
17: 26,166,508 (GRCm39) |
P343L |
probably benign |
Het |
| Rad18 |
C |
T |
6: 112,605,480 (GRCm39) |
S398N |
probably damaging |
Het |
| Rdh16f1 |
C |
A |
10: 127,626,722 (GRCm39) |
N258K |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,303,405 (GRCm39) |
H240R |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,462,752 (GRCm39) |
A292V |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,794,915 (GRCm39) |
G1151S |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,213,548 (GRCm39) |
I35T |
possibly damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,882,122 (GRCm39) |
M328K |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,824,031 (GRCm39) |
T267S |
possibly damaging |
Het |
| Speer3 |
G |
T |
5: 13,846,335 (GRCm39) |
M218I |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,876,432 (GRCm39) |
I271V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,863,255 (GRCm39) |
T195A |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,964 (GRCm39) |
N280K |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,522,709 (GRCm39) |
C181R |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,134,098 (GRCm39) |
K333R |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,600 (GRCm39) |
M600K |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,808,067 (GRCm39) |
Q1183* |
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,200,588 (GRCm39) |
L360I |
possibly damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,267 (GRCm39) |
T31S |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,279 (GRCm39) |
K164* |
probably null |
Het |
| Vwce |
T |
A |
19: 10,624,108 (GRCm39) |
L333* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,497,581 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,930 (GRCm39) |
M107V |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,934 (GRCm39) |
T851A |
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 |
|
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 |
|
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'- TGCTCCTGATGCCACCTCAAATAAC -3'
(R):5'- AGACTCCAGTAGCTCACAGCTTCC -3'
Sequencing Primer
(F):5'- GAATTCAGTGTTGTCTCCCAGAAC -3'
(R):5'- CCTAGCAGCAGTGGTCAGTATT -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation