Incidental Mutation 'IGL02659:Desi2'
| ID |
302479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Desi2
|
| Ensembl Gene |
ENSMUSG00000026502 |
| Gene Name |
desumoylating isopeptidase 2 |
| Synonyms |
Pppde1, Fam152a, 5830417C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
178014983-178080164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 178076843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 116
(A116T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027783]
[ENSMUST00000159284]
[ENSMUST00000161075]
|
| AlphaFold |
Q9D291 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027783
AA Change: A132T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027783
Gene: ENSMUSG00000026502
AA Change: A132T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
5 |
150 |
1.92e-59 |
SMART |
|
low complexity region
|
160 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159284
AA Change: A116T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123860
Gene: ENSMUSG00000026502
AA Change: A116T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
1 |
134 |
3.39e-46 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161075
AA Change: A116T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124658
Gene: ENSMUSG00000026502
AA Change: A116T
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
1 |
134 |
3.39e-46 |
SMART |
|
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out mouse exhibit normal body size, body weight, brain size, brain weight and neuron apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,708,298 (GRCm39) |
N192I |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,849 (GRCm39) |
I192F |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,379 (GRCm39) |
F971L |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,302,274 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,421,469 (GRCm39) |
T1087M |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,559,202 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,573,115 (GRCm39) |
D219G |
unknown |
Het |
| Eri2 |
T |
A |
7: 119,386,665 (GRCm39) |
Q202L |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,405,895 (GRCm39) |
P715L |
probably damaging |
Het |
| Higd1c |
A |
T |
15: 100,281,622 (GRCm39) |
M249L |
probably benign |
Het |
| Il5ra |
T |
A |
6: 106,719,644 (GRCm39) |
H63L |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,014,469 (GRCm39) |
C543S |
probably damaging |
Het |
| Lnpep |
T |
A |
17: 17,791,162 (GRCm39) |
I461F |
possibly damaging |
Het |
| Lum |
A |
G |
10: 97,404,609 (GRCm39) |
H168R |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,762,591 (GRCm39) |
E77G |
possibly damaging |
Het |
| Mrpl13 |
T |
C |
15: 55,421,135 (GRCm39) |
|
probably null |
Het |
| Mtpap |
T |
A |
18: 4,380,703 (GRCm39) |
L127* |
probably null |
Het |
| Myo15a |
T |
C |
11: 60,382,609 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,542,514 (GRCm39) |
S726G |
probably benign |
Het |
| Nlrp5 |
C |
A |
7: 23,118,006 (GRCm39) |
H577N |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,554 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,289 (GRCm39) |
M140V |
probably benign |
Het |
| Or2h15 |
C |
T |
17: 38,441,427 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,364 (GRCm39) |
D382E |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,907,069 (GRCm39) |
L516* |
probably null |
Het |
| Prune1 |
A |
G |
3: 95,162,711 (GRCm39) |
S321P |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Thbs1 |
T |
G |
2: 117,945,273 (GRCm39) |
V282G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,235,332 (GRCm39) |
R880C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,449,979 (GRCm39) |
I75S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,630,063 (GRCm39) |
I2690K |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,674,563 (GRCm39) |
N94S |
possibly damaging |
Het |
|
| Other mutations in Desi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0416:Desi2
|
UTSW |
1 |
178,083,887 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0627:Desi2
|
UTSW |
1 |
178,076,918 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1732:Desi2
|
UTSW |
1 |
178,084,217 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3116:Desi2
|
UTSW |
1 |
178,072,008 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5301:Desi2
|
UTSW |
1 |
178,071,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5770:Desi2
|
UTSW |
1 |
178,084,061 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5881:Desi2
|
UTSW |
1 |
178,065,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Desi2
|
UTSW |
1 |
178,077,018 (GRCm39) |
missense |
probably benign |
|
|
R6641:Desi2
|
UTSW |
1 |
178,071,943 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7289:Desi2
|
UTSW |
1 |
178,083,702 (GRCm39) |
start gained |
probably benign |
|
|
R7359:Desi2
|
UTSW |
1 |
178,015,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7431:Desi2
|
UTSW |
1 |
178,084,007 (GRCm39) |
nonsense |
probably null |
|
|
R8053:Desi2
|
UTSW |
1 |
178,065,482 (GRCm39) |
nonsense |
probably null |
|
|
R8348:Desi2
|
UTSW |
1 |
178,083,906 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9515:Desi2
|
UTSW |
1 |
178,084,170 (GRCm39) |
missense |
unknown |
|
|
R9518:Desi2
|
UTSW |
1 |
178,015,492 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Desi2
|
UTSW |
1 |
178,015,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation