Incidental Mutation 'R4633:Uspl1'
| ID |
349341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
041898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R4633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149151202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 801
(K801E)
|
| 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: K801E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: K801E
| 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: K787E
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: K787E
| 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: K602E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: K602E
| 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: K801E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: K801E
| 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 |
0.1048 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,503 (GRCm39) |
L786Q |
probably null |
Het |
| Abcb6 |
A |
T |
1: 75,154,426 (GRCm39) |
|
probably benign |
Het |
| Alg10b |
T |
C |
15: 90,112,497 (GRCm39) |
V447A |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| B4galt7 |
A |
G |
13: 55,756,563 (GRCm39) |
H203R |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,683,392 (GRCm39) |
D214A |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,014 (GRCm39) |
D275G |
probably benign |
Het |
| Cnot11 |
G |
T |
1: 39,575,299 (GRCm39) |
W127L |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,052,620 (GRCm39) |
I2168T |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,031,248 (GRCm39) |
F137S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,209,515 (GRCm39) |
L1234Q |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,323,814 (GRCm39) |
I676N |
possibly damaging |
Het |
| Erlin1 |
G |
A |
19: 44,029,204 (GRCm39) |
R243C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,076,990 (GRCm39) |
L576P |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Glg1 |
C |
T |
8: 111,904,276 (GRCm39) |
|
probably null |
Het |
| Gpr139 |
A |
T |
7: 118,743,628 (GRCm39) |
I319N |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,487,279 (GRCm39) |
H3425N |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,555,020 (GRCm39) |
D118G |
possibly damaging |
Het |
| Klra13-ps |
T |
G |
6: 130,268,136 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,042 (GRCm39) |
D225V |
probably damaging |
Het |
| Krtap4-9 |
G |
T |
11: 99,676,380 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,105,579 (GRCm39) |
A2029E |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,761 (GRCm39) |
T3473S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,957 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,036,424 (GRCm39) |
R910* |
probably null |
Het |
| Map1b |
C |
T |
13: 99,571,450 (GRCm39) |
V424M |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,197,737 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,335 (GRCm39) |
S369P |
probably benign |
Het |
| Myom3 |
T |
G |
4: 135,503,010 (GRCm39) |
F362L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,699,684 (GRCm39) |
|
probably benign |
Het |
| Or10s1 |
T |
A |
9: 39,985,630 (GRCm39) |
V13E |
probably damaging |
Het |
| Or1p1 |
T |
G |
11: 74,180,120 (GRCm39) |
M216R |
probably benign |
Het |
| Or2l13b |
C |
T |
16: 19,349,034 (GRCm39) |
G212D |
possibly damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,398 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,885,048 (GRCm39) |
L1376F |
unknown |
Het |
| Phykpl |
C |
A |
11: 51,484,435 (GRCm39) |
A208E |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,886,887 (GRCm39) |
F126S |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,868,904 (GRCm39) |
M479R |
probably damaging |
Het |
| Prpf4b |
A |
G |
13: 35,084,425 (GRCm39) |
T938A |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,870,369 (GRCm39) |
M63T |
probably damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,558,918 (GRCm39) |
S174P |
probably benign |
Het |
| Rcc1 |
G |
T |
4: 132,063,080 (GRCm39) |
S162R |
probably damaging |
Het |
| Rev3l |
T |
G |
10: 39,722,182 (GRCm39) |
L2520R |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,085,443 (GRCm39) |
|
probably null |
Het |
| Rps19 |
G |
T |
7: 24,588,595 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,622 (GRCm39) |
R116* |
probably null |
Het |
| Slc16a11 |
T |
C |
11: 70,107,205 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 34,959,074 (GRCm39) |
V296A |
probably damaging |
Het |
| Taar8b |
C |
A |
10: 23,968,150 (GRCm39) |
E15* |
probably null |
Het |
| Tas2r102 |
T |
A |
6: 132,739,642 (GRCm39) |
N183K |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,191,310 (GRCm39) |
E1041D |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,660 (GRCm39) |
V244A |
probably damaging |
Het |
| Trgc4 |
G |
T |
13: 19,536,457 (GRCm39) |
V172F |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,933,371 (GRCm39) |
I650K |
probably damaging |
Het |
| Trim59 |
G |
T |
3: 68,944,747 (GRCm39) |
Q198K |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,371,867 (GRCm39) |
T772I |
probably damaging |
Het |
| Tvp23a |
C |
T |
16: 10,244,909 (GRCm39) |
V146M |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,428 (GRCm39) |
D11V |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,362,211 (GRCm39) |
K32R |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,588,814 (GRCm39) |
I2452V |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,123,757 (GRCm39) |
L228P |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,987,024 (GRCm39) |
T158A |
probably benign |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp872 |
G |
T |
9: 22,108,490 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,768,891 (GRCm39) |
E1110G |
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 |
|
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 |
|
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'- AGAGCCTTCGTGGGAAGTTG -3'
(R):5'- CGAAGCTTATGAACCTGATCTTCAG -3'
Sequencing Primer
(F):5'- AAGTTGGGTGAAGGGGCTATTGAG -3'
(R):5'- GAACCTGATCTTCAGCCGCATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation