Incidental Mutation 'R4075:Depp1'
| ID |
316513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depp1
|
| Ensembl Gene |
ENSMUSG00000048489 |
| Gene Name |
DEPP1 autophagy regulator |
| Synonyms |
8430408G22Rik, Depp |
| MMRRC Submission |
040974-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116627645-116629808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116629029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 124
(N124S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035842]
[ENSMUST00000067354]
[ENSMUST00000178241]
[ENSMUST00000203029]
[ENSMUST00000204203]
[ENSMUST00000204576]
[ENSMUST00000204555]
|
| AlphaFold |
Q8K2F3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035842
|
| SMART Domains |
Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
1.36e-15 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
315 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067354
AA Change: N124S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
AA Change: N124S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
205 |
1.1e-71 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178241
AA Change: N124S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
AA Change: N124S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
205 |
5.5e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203029
|
| SMART Domains |
Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
RA
|
173 |
263 |
8.7e-18 |
SMART |
|
Pfam:Nore1-SARAH
|
276 |
303 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204576
|
| SMART Domains |
Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204555
|
| SMART Domains |
Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEPP
|
25 |
70 |
3e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile and display normal heart and blood vessel development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
| Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
| Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
| Other mutations in Depp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1424:Depp1
|
UTSW |
6 |
116,628,966 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1433:Depp1
|
UTSW |
6 |
116,629,223 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1806:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1807:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1872:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1879:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2060:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2207:Depp1
|
UTSW |
6 |
116,628,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4074:Depp1
|
UTSW |
6 |
116,629,029 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4724:Depp1
|
UTSW |
6 |
116,629,096 (GRCm39) |
nonsense |
probably null |
|
|
R5229:Depp1
|
UTSW |
6 |
116,628,992 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6737:Depp1
|
UTSW |
6 |
116,629,058 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7049:Depp1
|
UTSW |
6 |
116,629,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7092:Depp1
|
UTSW |
6 |
116,628,749 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8729:Depp1
|
UTSW |
6 |
116,628,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Depp1
|
UTSW |
6 |
116,629,122 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTGGACAAGGTCACAG -3'
(R):5'- TCATGGATCACTGGGAGGTG -3'
Sequencing Primer
(F):5'- TGGACAAGGTCACAGCCCAG -3'
(R):5'- TGCAAATAGAGAGTACCTAGGATAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation