Incidental Mutation 'R7152:Uspl1'
ID |
554190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
045254-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R7152 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149124588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 2
(T2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
[ENSMUST00000139474]
[ENSMUST00000202133]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050472
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: T2A
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 |
possibly damaging
Transcript: ENSMUST00000100410
AA Change: T2A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097978 Gene: ENSMUSG00000041264 AA Change: T2A
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: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: T2A
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 |
possibly damaging
Transcript: ENSMUST00000122160
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: T2A
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 |
possibly damaging
Transcript: ENSMUST00000126168
AA Change: T2A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139474
|
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
Fbxl13 |
T |
A |
5: 21,787,065 (GRCm39) |
I291F |
possibly damaging |
Het |
Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
Pcdhgb1 |
C |
A |
18: 37,814,854 (GRCm39) |
H448Q |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
Supt5 |
A |
G |
7: 28,023,325 (GRCm39) |
M318T |
probably benign |
Het |
Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
Tssc4 |
T |
A |
7: 142,624,139 (GRCm39) |
V149D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
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 |
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 |
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 |
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'- ACATGGAGGTGTTCTGAAGAC -3'
(R):5'- TGTAAGATTTCCGTGGAAGACAG -3'
Sequencing Primer
(F):5'- GAGGTGTTCTGAAGACTAGAGTC -3'
(R):5'- ACTTTTCCCAAGTACCCCA -3'
|
Posted On |
2019-05-15 |