Incidental Mutation 'R6331:Uspl1'
| ID |
510911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
044485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6331 (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 A
at 149151097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 752
(Q752K)
|
| 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: Q766K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: Q766K
| 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: Q752K
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: Q752K
| 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: Q567K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: Q567K
| 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: Q766K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: Q766K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,529,199 (GRCm39) |
D981G |
probably damaging |
Het |
| Abcc1 |
C |
A |
16: 14,282,920 (GRCm39) |
A1132D |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,519 (GRCm39) |
T364A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,989 (GRCm39) |
M1758L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,258,825 (GRCm39) |
V774A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,915,172 (GRCm39) |
E1934G |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,774,092 (GRCm39) |
A341T |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,238,816 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,175 (GRCm39) |
I1150T |
probably benign |
Het |
| Brd10 |
C |
T |
19: 29,695,147 (GRCm39) |
V1449I |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,638,144 (GRCm39) |
T241A |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,466,865 (GRCm39) |
R1627S |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,785,908 (GRCm39) |
S322P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,877,256 (GRCm39) |
C498* |
probably null |
Het |
| Diaph3 |
T |
G |
14: 87,103,976 (GRCm39) |
S803R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,354,991 (GRCm39) |
L10P |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,107,287 (GRCm39) |
V741A |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,194,162 (GRCm39) |
M119V |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,941,718 (GRCm39) |
S574P |
possibly damaging |
Het |
| Hapln4 |
T |
A |
8: 70,537,073 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,904,385 (GRCm39) |
V209A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,053,231 (GRCm39) |
F2521L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,724 (GRCm39) |
D1299G |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,253 (GRCm39) |
E325V |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 122,977,405 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,693,221 (GRCm39) |
N3266K |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 77,168,982 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
A |
G |
1: 184,551,525 (GRCm39) |
S304P |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,503,688 (GRCm39) |
N379S |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,908,037 (GRCm39) |
D1358E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,901,968 (GRCm39) |
E939G |
probably damaging |
Het |
| Obox1 |
A |
G |
7: 15,289,294 (GRCm39) |
R70G |
probably benign |
Het |
| Or13c25 |
A |
G |
4: 52,911,399 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,144 (GRCm39) |
E180G |
probably benign |
Het |
| Or4a2 |
C |
T |
2: 89,248,695 (GRCm39) |
G21S |
probably benign |
Het |
| Or5m12 |
T |
C |
2: 85,734,560 (GRCm39) |
I279M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,279 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,044,662 (GRCm39) |
I47V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,851,451 (GRCm39) |
S123T |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,198 (GRCm39) |
S337P |
probably damaging |
Het |
| Ptgfrn |
A |
C |
3: 100,952,936 (GRCm39) |
V766G |
possibly damaging |
Het |
| Ptpn11 |
T |
A |
5: 121,282,716 (GRCm39) |
H419L |
probably damaging |
Het |
| Rims3 |
T |
A |
4: 120,740,350 (GRCm39) |
V99E |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,313,571 (GRCm39) |
R228H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,361 (GRCm39) |
V300A |
probably damaging |
Het |
| Sdad1 |
T |
C |
5: 92,451,789 (GRCm39) |
D144G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,178 (GRCm39) |
Y22H |
possibly damaging |
Het |
| Slc39a1 |
A |
G |
3: 90,159,588 (GRCm39) |
K305R |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,014,034 (GRCm39) |
R414G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,753,500 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
C |
T |
11: 50,022,324 (GRCm39) |
A20V |
possibly damaging |
Het |
| Tgfb3 |
G |
T |
12: 86,110,638 (GRCm39) |
D237E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,431,073 (GRCm39) |
S234P |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,815 (GRCm39) |
N439S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,248,925 (GRCm39) |
S783P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,632,698 (GRCm39) |
Y12373N |
probably damaging |
Het |
| Tube1 |
G |
A |
10: 39,010,097 (GRCm39) |
V7I |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,410 (GRCm39) |
V265A |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,402 (GRCm39) |
H1550R |
possibly damaging |
Het |
| Usp33 |
A |
T |
3: 152,081,887 (GRCm39) |
M546L |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,655 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,521 (GRCm39) |
F245S |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,186,182 (GRCm39) |
S168P |
probably damaging |
Het |
| Wdr24 |
T |
G |
17: 26,044,650 (GRCm39) |
D168E |
possibly damaging |
Het |
| Zfp646 |
C |
T |
7: 127,482,853 (GRCm39) |
P1677S |
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 |
|
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'- GCAACCTGGTAAATCTCAGGC -3'
(R):5'- TTCCTGCTCCCTCAACAGAG -3'
Sequencing Primer
(F):5'- CTCAGGCATCTAATTTGAGAAAACG -3'
(R):5'- CTCAACAGAGCTGAGGTGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation