Incidental Mutation 'R7661:Uspl1'
| ID |
591559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
045736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R7661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149151827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1009
(F1009S)
|
| 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 benign
Transcript: ENSMUST00000050472
AA Change: F1009S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: F1009S
| 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: F995S
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: F995S
| 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: F810S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: F810S
| 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: F1009S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: F1009S
| 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
|
| Meta Mutation Damage Score |
0.0797 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
A |
T |
12: 107,455,215 (GRCm39) |
K100N |
unknown |
Het |
| Abi3bp |
T |
A |
16: 56,453,263 (GRCm39) |
|
probably null |
Het |
| Akr1c20 |
T |
C |
13: 4,558,218 (GRCm39) |
D210G |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Ascc1 |
A |
C |
10: 59,885,629 (GRCm39) |
N227H |
probably damaging |
Het |
| Atp5f1a |
G |
T |
18: 77,861,802 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,558 (GRCm39) |
T84A |
possibly damaging |
Het |
| Blmh |
T |
A |
11: 76,877,341 (GRCm39) |
V419D |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,769,177 (GRCm39) |
P1918S |
probably benign |
Het |
| Calr4 |
T |
C |
4: 109,110,951 (GRCm39) |
V339A |
probably benign |
Het |
| Capza3 |
C |
A |
6: 139,987,498 (GRCm39) |
D32E |
probably benign |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Cldn20 |
T |
A |
17: 3,583,133 (GRCm39) |
M102K |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,734,841 (GRCm39) |
Q479R |
probably benign |
Het |
| Dpp10 |
A |
T |
1: 123,312,681 (GRCm39) |
I432N |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,295,434 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,617,503 (GRCm39) |
D741E |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,111,843 (GRCm39) |
|
probably null |
Het |
| Fam47e |
C |
T |
5: 92,735,384 (GRCm39) |
L206F |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,221,772 (GRCm39) |
R714H |
unknown |
Het |
| Hace1 |
T |
G |
10: 45,481,649 (GRCm39) |
V124G |
probably damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,428 (GRCm39) |
Y396F |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,497,826 (GRCm39) |
I13M |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,865,122 (GRCm39) |
F517L |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,829,762 (GRCm39) |
T618A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,691,229 (GRCm39) |
T952A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,402,328 (GRCm39) |
I208K |
probably damaging |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,059 (GRCm39) |
I1744T |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,431 (GRCm39) |
R279W |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,244,761 (GRCm39) |
T646S |
probably damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,518,724 (GRCm39) |
*117R |
probably null |
Het |
| Nudt18 |
A |
T |
14: 70,817,276 (GRCm39) |
E293D |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,426 (GRCm39) |
S75P |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,826 (GRCm39) |
V205E |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,558 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 124,442,696 (GRCm38) |
F17L |
|
Het |
| Ptprk |
T |
C |
10: 28,342,036 (GRCm39) |
I481T |
probably benign |
Het |
| Pygo2 |
T |
C |
3: 89,338,038 (GRCm39) |
|
probably null |
Het |
| Raet1d |
T |
C |
10: 22,248,156 (GRCm39) |
S225P |
possibly damaging |
Het |
| Rnf24 |
T |
C |
2: 131,164,135 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,687 (GRCm39) |
S687G |
probably damaging |
Het |
| Rsph9 |
A |
G |
17: 46,446,013 (GRCm39) |
S186P |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,605,155 (GRCm39) |
M1078I |
probably benign |
Het |
| Scd4 |
C |
A |
19: 44,327,510 (GRCm39) |
D195E |
probably benign |
Het |
| Spopfm3 |
C |
T |
3: 94,105,709 (GRCm39) |
T9I |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,904,940 (GRCm39) |
C348R |
probably damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,149 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn1r257 |
A |
G |
7: 22,391,229 (GRCm39) |
S172P |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,582 (GRCm39) |
N72K |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,135 (GRCm39) |
C322* |
probably null |
Het |
| Zfp839 |
C |
T |
12: 110,835,226 (GRCm39) |
T827I |
probably benign |
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 |
|
|
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'- AAATCTGGGTGCACCTCTGC -3'
(R):5'- TAGCACGCACTCAGCAATTC -3'
Sequencing Primer
(F):5'- GTGCACCTCTGCTCCTGATG -3'
(R):5'- TGTTAAAGAATTCAGTGCTGAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation