Incidental Mutation 'R8126:Uspl1'
ID |
631756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
067555-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R8126 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 149151430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 877
(L877F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050172
(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: L877F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: L877F
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: L863F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: L863F
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: L678F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: L678F
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: L877F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: L877F
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
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Aplp1 |
T |
A |
7: 30,141,164 (GRCm39) |
D299V |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,968,987 (GRCm39) |
I841M |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,192,790 (GRCm39) |
E1348G |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,359,881 (GRCm39) |
T1948A |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,558,393 (GRCm39) |
Y431H |
probably benign |
Het |
Cfap74 |
C |
A |
4: 155,511,831 (GRCm39) |
D446E |
|
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,007 (GRCm39) |
T1632A |
unknown |
Het |
Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
Cspg4b |
T |
A |
13: 113,504,697 (GRCm39) |
I1942N |
|
Het |
Cstl1 |
A |
G |
2: 148,596,591 (GRCm39) |
E98G |
probably benign |
Het |
Ddx49 |
A |
T |
8: 70,748,246 (GRCm39) |
I303N |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Gm14295 |
A |
G |
2: 176,502,658 (GRCm39) |
D716G |
probably benign |
Het |
Gsap |
T |
A |
5: 21,475,010 (GRCm39) |
H556Q |
probably benign |
Het |
Hsp90b1 |
T |
C |
10: 86,530,246 (GRCm39) |
I538V |
probably damaging |
Het |
Ighv1-49 |
C |
T |
12: 115,019,230 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,942,063 (GRCm39) |
N725S |
probably damaging |
Het |
Mfsd4b2 |
A |
G |
10: 39,797,984 (GRCm39) |
S124P |
probably benign |
Het |
Ncoa1 |
A |
T |
12: 4,340,951 (GRCm39) |
L827Q |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,183,268 (GRCm39) |
N59D |
unknown |
Het |
Nfkbid |
T |
A |
7: 30,123,799 (GRCm39) |
S120T |
probably benign |
Het |
Nktr |
T |
C |
9: 121,575,514 (GRCm39) |
Y341H |
probably damaging |
Het |
Npat |
T |
C |
9: 53,463,634 (GRCm39) |
V139A |
probably benign |
Het |
Or5ae1 |
T |
A |
7: 84,565,114 (GRCm39) |
N42K |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,047,506 (GRCm39) |
D721G |
probably benign |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Ppp3ca |
T |
A |
3: 136,608,952 (GRCm39) |
D348E |
probably damaging |
Het |
Pramel21 |
T |
A |
4: 143,343,635 (GRCm39) |
C312S |
possibly damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,372 (GRCm39) |
I171M |
probably damaging |
Het |
Snrpa |
G |
T |
7: 26,892,373 (GRCm39) |
F62L |
possibly damaging |
Het |
Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
Tbc1d2b |
T |
C |
9: 90,104,369 (GRCm39) |
H591R |
probably benign |
Het |
Tnfsf8 |
T |
G |
4: 63,752,423 (GRCm39) |
D214A |
possibly damaging |
Het |
Trdmt1 |
C |
T |
2: 13,524,816 (GRCm39) |
R213H |
probably benign |
Het |
Vmn1r22 |
C |
A |
6: 57,877,669 (GRCm39) |
V103F |
possibly damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,880,712 (GRCm39) |
S18P |
probably benign |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,042,814 (GRCm39) |
Y74F |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,067,951 (GRCm39) |
F1429S |
possibly damaging |
Het |
Zdhhc20 |
C |
A |
14: 58,084,402 (GRCm39) |
V238F |
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 |
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 |
|
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'- TCCACCATTGAGCTGGACAG -3'
(R):5'- AAGGTCAATTTGATGCTGTAGCTC -3'
Sequencing Primer
(F):5'- ACAGCTGCTCTGACCCAG -3'
(R):5'- ACAGATCTTCTATGGACTCACAGTC -3'
|
Posted On |
2020-06-30 |