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: 0.954)
|
| Stock # |
R5222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149184350-149215434 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 149214101 bp (GRCm38)
|
| 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: 160,044,608 (GRCm38) |
|
noncoding transcript |
Het |
| Acad11 |
G |
A |
9: 104,097,377 (GRCm38) |
A515T |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,676,334 (GRCm38) |
Y43C |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,337,314 (GRCm38) |
Y24C |
probably damaging |
Het |
| Cd40 |
G |
C |
2: 165,066,544 (GRCm38) |
S180T |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,037,747 (GRCm38) |
S302T |
possibly damaging |
Het |
| Cit |
C |
A |
5: 115,952,543 (GRCm38) |
T932K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,559,640 (GRCm38) |
|
probably null |
Het |
| Dapk3 |
A |
G |
10: 81,192,460 (GRCm38) |
E288G |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 61,984,158 (GRCm38) |
F1002S |
probably damaging |
Het |
| Dgke |
G |
T |
11: 89,050,394 (GRCm38) |
T321K |
probably benign |
Het |
| Ebf2 |
T |
G |
14: 67,313,594 (GRCm38) |
|
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,990,962 (GRCm38) |
D311G |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,448,749 (GRCm38) |
E194G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,158,583 (GRCm38) |
Y428H |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,318,826 (GRCm38) |
F132S |
probably damaging |
Het |
| Gm5455 |
T |
C |
13: 110,304,960 (GRCm38) |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,189,797 (GRCm38) |
V202E |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Mark1 |
A |
T |
1: 184,928,091 (GRCm38) |
F123I |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,385,257 (GRCm38) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 59,044,145 (GRCm38) |
T5220S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 (GRCm38) |
|
probably null |
Het |
| Or2l13 |
A |
C |
16: 19,486,930 (GRCm38) |
I31L |
probably benign |
Het |
| Or2p2 |
T |
A |
13: 21,072,569 (GRCm38) |
H244L |
probably damaging |
Het |
| Pdcd1 |
A |
T |
1: 94,052,450 (GRCm38) |
V14E |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,718,984 (GRCm38) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,964,792 (GRCm38) |
I454F |
possibly damaging |
Het |
| Prrx1 |
C |
T |
1: 163,261,973 (GRCm38) |
R95Q |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,874,332 (GRCm38) |
Y267* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,662,564 (GRCm38) |
I884T |
probably damaging |
Het |
| Rad17 |
G |
A |
13: 100,633,891 (GRCm38) |
T216I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 52,077,020 (GRCm38) |
I107T |
probably benign |
Het |
| Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
| Rtel1 |
G |
T |
2: 181,346,983 (GRCm38) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,666,703 (GRCm38) |
T362M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,815,202 (GRCm38) |
|
probably null |
Het |
| Sec31a |
G |
T |
5: 100,382,895 (GRCm38) |
T243N |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,898,611 (GRCm38) |
H30L |
possibly damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,997,491 (GRCm38) |
|
noncoding transcript |
Het |
| Smarca4 |
A |
G |
9: 21,655,706 (GRCm38) |
D694G |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 17,838,105 (GRCm38) |
T213A |
probably benign |
Het |
| Tagap |
C |
A |
17: 7,933,641 (GRCm38) |
Q553K |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 7,933,642 (GRCm38) |
Q553L |
possibly damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,898,612 (GRCm38) |
Q19R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,878,853 (GRCm38) |
|
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,775,705 (GRCm38) |
R399S |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,581,548 (GRCm38) |
Y853* |
probably null |
Het |
| Vrk3 |
A |
T |
7: 44,759,796 (GRCm38) |
Q129L |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,736,685 (GRCm38) |
C901* |
probably null |
Het |
|
| Other mutations in Uspl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Uspl1
|
APN |
5 |
149,215,214 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00571:Uspl1
|
APN |
5 |
149,188,360 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01134:Uspl1
|
APN |
5 |
149,204,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02222:Uspl1
|
APN |
5 |
149,194,044 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02383:Uspl1
|
APN |
5 |
149,213,402 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02538:Uspl1
|
APN |
5 |
149,188,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02546:Uspl1
|
APN |
5 |
149,204,304 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02585:Uspl1
|
APN |
5 |
149,214,062 (GRCm38) |
nonsense |
probably null |
|
|
IGL02971:Uspl1
|
APN |
5 |
149,188,346 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0020:Uspl1
|
UTSW |
5 |
149,209,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0070:Uspl1
|
UTSW |
5 |
149,209,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0142:Uspl1
|
UTSW |
5 |
149,188,349 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0433:Uspl1
|
UTSW |
5 |
149,214,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0554:Uspl1
|
UTSW |
5 |
149,187,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Uspl1
|
UTSW |
5 |
149,214,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1195:Uspl1
|
UTSW |
5 |
149,194,321 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1195:Uspl1
|
UTSW |
5 |
149,194,321 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1195:Uspl1
|
UTSW |
5 |
149,194,321 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1465:Uspl1
|
UTSW |
5 |
149,214,032 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1465:Uspl1
|
UTSW |
5 |
149,214,032 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1623:Uspl1
|
UTSW |
5 |
149,215,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:Uspl1
|
UTSW |
5 |
149,201,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1793:Uspl1
|
UTSW |
5 |
149,213,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1823:Uspl1
|
UTSW |
5 |
149,214,414 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2088:Uspl1
|
UTSW |
5 |
149,209,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2099:Uspl1
|
UTSW |
5 |
149,214,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Uspl1
|
UTSW |
5 |
149,187,854 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2944:Uspl1
|
UTSW |
5 |
149,201,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3437:Uspl1
|
UTSW |
5 |
149,214,697 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4132:Uspl1
|
UTSW |
5 |
149,204,349 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4458:Uspl1
|
UTSW |
5 |
149,214,152 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4537:Uspl1
|
UTSW |
5 |
149,187,778 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4623:Uspl1
|
UTSW |
5 |
149,214,595 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4633:Uspl1
|
UTSW |
5 |
149,214,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4737:Uspl1
|
UTSW |
5 |
149,194,339 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4743:Uspl1
|
UTSW |
5 |
149,209,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5200:Uspl1
|
UTSW |
5 |
149,214,113 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5337:Uspl1
|
UTSW |
5 |
149,214,746 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5496:Uspl1
|
UTSW |
5 |
149,209,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5654:Uspl1
|
UTSW |
5 |
149,209,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5845:Uspl1
|
UTSW |
5 |
149,193,960 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6266:Uspl1
|
UTSW |
5 |
149,204,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6331:Uspl1
|
UTSW |
5 |
149,214,287 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6338:Uspl1
|
UTSW |
5 |
149,215,034 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6774:Uspl1
|
UTSW |
5 |
149,214,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6855:Uspl1
|
UTSW |
5 |
149,187,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7131:Uspl1
|
UTSW |
5 |
149,193,935 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7152:Uspl1
|
UTSW |
5 |
149,187,778 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7446:Uspl1
|
UTSW |
5 |
149,204,272 (GRCm38) |
nonsense |
probably null |
|
|
R7661:Uspl1
|
UTSW |
5 |
149,215,017 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8095:Uspl1
|
UTSW |
5 |
149,214,182 (GRCm38) |
nonsense |
probably null |
|
|
R8126:Uspl1
|
UTSW |
5 |
149,214,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8316:Uspl1
|
UTSW |
5 |
149,198,681 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8479:Uspl1
|
UTSW |
5 |
149,215,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8926:Uspl1
|
UTSW |
5 |
149,201,891 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9140:Uspl1
|
UTSW |
5 |
149,213,480 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R9178:Uspl1
|
UTSW |
5 |
149,204,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9196:Uspl1
|
UTSW |
5 |
149,214,539 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9359:Uspl1
|
UTSW |
5 |
149,209,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9384:Uspl1
|
UTSW |
5 |
149,214,539 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9608:Uspl1
|
UTSW |
5 |
149,215,060 (GRCm38) |
missense |
probably benign |
0.17 |
|
X0019:Uspl1
|
UTSW |
5 |
149,214,267 (GRCm38) |
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 |
Incidental Mutation