Incidental Mutation 'R5222:Uspl1'
ID |
402364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
042795-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R5222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 149150911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 690
(Q690K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114104
(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: Q704K
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: Q704K
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: Q690K
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: Q690K
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: Q505K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: Q505K
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: Q704K
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: Q704K
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
probably null |
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 |
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'- GTTTCCCATCCCAAGCTGTG -3'
(R):5'- TGCAGGTCACTTACTGCTC -3'
Sequencing Primer
(F):5'- TGTGAGCACAGACCTGCAG -3'
(R):5'- TCTACTCTGAGACAAAACACAGGTTG -3'
|
Posted On |
2016-07-22 |