Incidental Mutation 'IGL02971:Uspl1'
| ID |
365825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uspl1
|
| Ensembl Gene |
ENSMUSG00000041264 |
| Gene Name |
ubiquitin specific peptidase like 1 |
| Synonyms |
E430026A01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL02971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149125156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 35
(N35S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
[ENSMUST00000139474]
[ENSMUST00000202133]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050472
AA Change: N35S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: N35S
| 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 |
possibly damaging
Transcript: ENSMUST00000100410
AA Change: N35S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: N35S
| 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: N21S
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: N21S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
| 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 |
possibly damaging
Transcript: ENSMUST00000122160
AA Change: N35S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: N35S
| 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 |
possibly damaging
Transcript: ENSMUST00000126168
AA Change: N35S
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149896
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202133
|
| SMART Domains |
Protein: ENSMUSP00000144412
Gene: ENSMUSG00000066551
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
22 |
94 |
3.6e-28 |
SMART |
|
HMG
|
108 |
178 |
1.7e-32 |
SMART |
|
low complexity region
|
183 |
210 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
| Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
| Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
| Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,198,671 (GRCm39) |
Y364* |
probably null |
Het |
| Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
| Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hdac2 |
A |
T |
10: 36,876,370 (GRCm39) |
K462* |
probably null |
Het |
| Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,826 (GRCm39) |
S1502G |
probably damaging |
Het |
| Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
| Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
| Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
| Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
| Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
| Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,747,497 (GRCm39) |
I297V |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,616,559 (GRCm39) |
V139M |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
| Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation