Incidental Mutation 'R7446:Uspl1'
| ID |
577285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| MMRRC Submission |
045522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R7446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 149141082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 360
(C360*)
|
| 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 null
Transcript: ENSMUST00000050472
AA Change: C360*
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: C360*
| 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 null
Transcript: ENSMUST00000100410
AA Change: C360*
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: C360*
| 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 null
Transcript: ENSMUST00000117878
AA Change: C161*
|
| SMART Domains |
Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: C161*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119685
AA Change: C346*
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: C346*
| 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 null
Transcript: ENSMUST00000121416
AA Change: C161*
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: C161*
| 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 null
Transcript: ENSMUST00000122160
AA Change: C360*
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: C360*
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
| Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
| C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
| Cfap61 |
C |
T |
2: 145,995,758 (GRCm39) |
R1108C |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
| Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
| Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
| Def8 |
T |
C |
8: 124,181,061 (GRCm39) |
C153R |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
| Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
| Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
| Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
| Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,009,347 (GRCm39) |
T82A |
probably damaging |
Het |
| Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
| Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
| Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
| Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
| Plcz1 |
A |
C |
6: 139,959,312 (GRCm39) |
S282A |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
| Ralgds |
T |
A |
2: 28,435,901 (GRCm39) |
S509T |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
| Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
| Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
| Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
| Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
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 |
|
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'- CACCCTTCTGTGCATGTCAG -3'
(R):5'- CTGAAGGGTAAGTGGTGCTCAC -3'
Sequencing Primer
(F):5'- CAGTTGGTGTGGAGGCTCC -3'
(R):5'- CGAGGAACTGTACATGCATCTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation