Incidental Mutation 'R6338:Uspl1'
ID |
514317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
044492-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R6338 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149151844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 1015
(N1015D)
|
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 benign
Transcript: ENSMUST00000050472
AA Change: N1015D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: N1015D
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 benign
Transcript: ENSMUST00000119685
AA Change: N1001D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: N1001D
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: N816D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: N816D
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 benign
Transcript: ENSMUST00000122160
AA Change: N1015D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: N1015D
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 |
noncoding transcript
Transcript: ENSMUST00000150921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126168
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
T |
C |
7: 97,906,922 (GRCm39) |
Y128C |
probably damaging |
Het |
Adam30 |
T |
G |
3: 98,068,857 (GRCm39) |
I102S |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,792,466 (GRCm39) |
D163E |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,255,042 (GRCm39) |
E1614K |
probably benign |
Het |
Aldh16a1 |
A |
T |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,687,490 (GRCm39) |
D238G |
probably damaging |
Het |
Arhgap11a |
T |
C |
2: 113,664,070 (GRCm39) |
S738G |
probably benign |
Het |
Arid5b |
C |
A |
10: 67,934,391 (GRCm39) |
G504* |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,899,154 (GRCm39) |
D186V |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,248,930 (GRCm39) |
D882G |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,532,605 (GRCm39) |
V689A |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,100 (GRCm39) |
V174E |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,982,492 (GRCm39) |
K2725T |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,244,896 (GRCm39) |
E55G |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,734,034 (GRCm39) |
R2027* |
probably null |
Het |
Fam13a |
A |
G |
6: 58,930,484 (GRCm39) |
V476A |
probably damaging |
Het |
Fem1b |
A |
T |
9: 62,704,293 (GRCm39) |
D322E |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,274,489 (GRCm39) |
V466I |
probably benign |
Het |
Gm20671 |
A |
T |
5: 32,977,991 (GRCm39) |
D1794E |
probably damaging |
Het |
Gpatch2 |
G |
T |
1: 186,957,711 (GRCm39) |
R22L |
probably damaging |
Het |
Gtf2h1 |
A |
G |
7: 46,465,880 (GRCm39) |
T450A |
probably benign |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Krit1 |
T |
G |
5: 3,886,857 (GRCm39) |
M702R |
probably benign |
Het |
Krt34 |
T |
C |
11: 99,929,316 (GRCm39) |
N298S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,612,376 (GRCm39) |
N376K |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,368,959 (GRCm39) |
E573G |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,857 (GRCm39) |
F215I |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,834 (GRCm39) |
D111V |
probably damaging |
Het |
Or1e31 |
A |
T |
11: 73,690,145 (GRCm39) |
L146Q |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,694 (GRCm39) |
S112G |
probably benign |
Het |
Or4c119 |
T |
A |
2: 88,986,715 (GRCm39) |
K268I |
probably damaging |
Het |
Or56b2 |
T |
A |
7: 104,337,378 (GRCm39) |
V52E |
possibly damaging |
Het |
Phf20 |
A |
T |
2: 156,115,606 (GRCm39) |
Q309L |
possibly damaging |
Het |
Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
Pold3 |
A |
G |
7: 99,737,312 (GRCm39) |
V342A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,630,505 (GRCm39) |
|
probably null |
Het |
Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
Rab11fip5 |
T |
C |
6: 85,318,360 (GRCm39) |
E843G |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,575,062 (GRCm39) |
D632G |
probably damaging |
Het |
Rnf149 |
A |
T |
1: 39,599,823 (GRCm39) |
C268S |
probably null |
Het |
Slc6a13 |
T |
A |
6: 121,311,798 (GRCm39) |
F392I |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,338,492 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
A |
13: 77,232,581 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,527,966 (GRCm39) |
V1408I |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,241,229 (GRCm39) |
I183T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,205,475 (GRCm39) |
E3497G |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,706,361 (GRCm39) |
R121* |
probably null |
Het |
Tdpoz2 |
C |
T |
3: 93,559,643 (GRCm39) |
V110I |
probably benign |
Het |
Ubn2 |
A |
G |
6: 38,467,649 (GRCm39) |
T788A |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,641,729 (GRCm39) |
I1255F |
probably damaging |
Het |
Usp44 |
G |
T |
10: 93,682,375 (GRCm39) |
R275I |
probably damaging |
Het |
Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
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 |
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 |
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'- AAATCTGGGTGCACCTCTG -3'
(R):5'- TAGCACGCACTCAGCAATTC -3'
Sequencing Primer
(F):5'- GTGCACCTCTGCTCCTGATG -3'
(R):5'- CAAAATGAGGTATGTCTAATGTGTCG -3'
|
Posted On |
2018-04-27 |