Incidental Mutation 'R6641:Desi2'
| ID |
525758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Desi2
|
| Ensembl Gene |
ENSMUSG00000026502 |
| Gene Name |
desumoylating isopeptidase 2 |
| Synonyms |
Pppde1, Fam152a, 5830417C01Rik |
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
178014983-178080164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 178071943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 82
(E82D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027783]
[ENSMUST00000159284]
[ENSMUST00000161075]
|
| AlphaFold |
Q9D291 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027783
AA Change: E82D
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027783
Gene: ENSMUSG00000026502
AA Change: E82D
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
5 |
150 |
1.92e-59 |
SMART |
|
low complexity region
|
160 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159284
AA Change: E66D
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123860
Gene: ENSMUSG00000026502
AA Change: E66D
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
1 |
134 |
3.39e-46 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161075
AA Change: E66D
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124658
Gene: ENSMUSG00000026502
AA Change: E66D
| Domain | Start | End | E-Value | Type |
|---|
|
DUF862
|
1 |
134 |
3.39e-46 |
SMART |
|
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
Het |
|
| Other mutations in Desi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02659:Desi2
|
APN |
1 |
178,076,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTAACCCCAGTATTTAGCAGG -3'
(R):5'- GTGTCACGTGAAGGGCTTAAAG -3'
Sequencing Primer
(F):5'- TTAGCAGGGATATTTTTAGCT -3'
(R):5'- CTTTAATCCCAGCATGAGAGGCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation