Incidental Mutation 'R6266:Uspl1'
| ID |
506999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 149141176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 392
(S392T)
|
| 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 damaging
Transcript: ENSMUST00000050472
AA Change: S392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: S392T
| 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 damaging
Transcript: ENSMUST00000100410
AA Change: S392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: S392T
| 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
AA Change: S193T
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: S193T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119685
AA Change: S378T
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: S378T
| 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 damaging
Transcript: ENSMUST00000121416
AA Change: S193T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: S193T
| 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 damaging
Transcript: ENSMUST00000122160
AA Change: S392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: S392T
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
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 |
|
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 |
|
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'- CCTTCTGTGCATGTCAGTTG -3'
(R):5'- TAAGCAACTGGTGGCCCTAAG -3'
Sequencing Primer
(F):5'- GGAGGCTCCAGTGTCTCTTC -3'
(R):5'- TGGCCCTAAGTAAGTGTCCAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation