Incidental Mutation 'R2497:Uspl1'
| ID |
251053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
040411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R2497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149124664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 27
(P27L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
[ENSMUST00000202133]
[ENSMUST00000139474]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050472
AA Change: P27L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: P27L
| 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: P27L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: P27L
| 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 benign
Transcript: ENSMUST00000119685
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
| 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: P27L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: P27L
| 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 damaging
Transcript: ENSMUST00000126168
AA Change: P27L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202133
|
| SMART Domains |
Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
22 |
94 |
3.6e-28 |
SMART |
|
HMG
|
108 |
178 |
1.7e-32 |
SMART |
|
low complexity region
|
183 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139474
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,612 (GRCm38) |
V295A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,258,268 (GRCm39) |
E959G |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arhgap39 |
C |
A |
15: 76,609,585 (GRCm39) |
V1025L |
probably damaging |
Het |
| Atg4d |
C |
T |
9: 21,184,682 (GRCm39) |
R459* |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,909,294 (GRCm39) |
S1163G |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,157,889 (GRCm39) |
S173* |
probably null |
Het |
| Atp6v1g2 |
T |
A |
17: 35,455,762 (GRCm39) |
I8N |
probably damaging |
Het |
| Ccdc77 |
C |
T |
6: 120,302,433 (GRCm39) |
G430R |
possibly damaging |
Het |
| Cdc34b |
A |
G |
11: 94,633,207 (GRCm39) |
T136A |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 29,658,524 (GRCm39) |
S23P |
unknown |
Het |
| Cdkl2 |
T |
A |
5: 92,156,857 (GRCm39) |
H566L |
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,901,790 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,421,432 (GRCm39) |
V98A |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,466,140 (GRCm39) |
T557A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,513 (GRCm39) |
T192A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
G |
11: 117,977,850 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,960,339 (GRCm39) |
Q2239* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,656,376 (GRCm39) |
V1572A |
probably benign |
Het |
| Elfn2 |
C |
G |
15: 78,558,464 (GRCm39) |
E28Q |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,650,553 (GRCm39) |
N687K |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,974,685 (GRCm39) |
R652W |
probably benign |
Het |
| Gm5612 |
T |
C |
9: 18,338,975 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Mmp3 |
A |
G |
9: 7,450,131 (GRCm39) |
T288A |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,649 (GRCm39) |
F168L |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,263 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
T |
A |
11: 80,565,647 (GRCm39) |
N393Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,979,580 (GRCm39) |
Y285* |
probably null |
Het |
| Nf1 |
G |
T |
11: 79,334,710 (GRCm39) |
G844V |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,084 (GRCm39) |
Y113* |
probably null |
Het |
| Pcdha3 |
T |
C |
18: 37,080,556 (GRCm39) |
C433R |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,142,142 (GRCm39) |
I358V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,211,700 (GRCm39) |
D819V |
possibly damaging |
Het |
| Phf3 |
C |
A |
1: 30,869,095 (GRCm39) |
R651L |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,834 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rab27a |
T |
C |
9: 72,992,263 (GRCm39) |
L97P |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,652,676 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,447,958 (GRCm39) |
N259S |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,620 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,617,534 (GRCm39) |
N300I |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,888,078 (GRCm39) |
I875V |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,096,919 (GRCm39) |
N174S |
probably damaging |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,564,319 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
C |
T |
5: 120,677,063 (GRCm39) |
|
probably null |
Het |
| Unc45b |
A |
T |
11: 82,827,269 (GRCm39) |
I699F |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,043,535 (GRCm39) |
P91R |
probably damaging |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,278 (GRCm39) |
T132M |
probably damaging |
Het |
| Zfp148 |
T |
C |
16: 33,316,755 (GRCm39) |
Y434H |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,551 (GRCm39) |
V640A |
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 |
|
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 |
|
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'- TACATGGAGGTGTTCTGAAGAC -3'
(R):5'- CATCTTTCGCCATTGCTGTAAG -3'
Sequencing Primer
(F):5'- GAGGTGTTCTGAAGACTAGAGTC -3'
(R):5'- GCTGTAAGATTTCCGTGGAAGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation