Incidental Mutation 'IGL00811:Det1'
| ID |
10130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Det1
|
| Ensembl Gene |
ENSMUSG00000030610 |
| Gene Name |
DET1 partner of COP1 E3 ubiquitin ligase |
| Synonyms |
2610034H20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.806)
|
| Stock # |
IGL00811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78471295-78497011 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78489807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 406
(V406A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032839]
[ENSMUST00000107431]
|
| AlphaFold |
Q9D0A0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032839
AA Change: V406A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: V406A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Det1
|
142 |
547 |
2.6e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107431
AA Change: V75A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103054
Gene: ENSMUSG00000030610
AA Change: V75A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Det1
|
6 |
138 |
2.7e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agps |
T |
C |
2: 75,756,316 (GRCm39) |
F649L |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,231 (GRCm39) |
D1752E |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,560,672 (GRCm39) |
V955A |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,354 (GRCm39) |
|
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,961,285 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,567 (GRCm39) |
L614P |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,704,201 (GRCm39) |
V353D |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,724 (GRCm39) |
P140S |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,244 (GRCm39) |
F4L |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,579,531 (GRCm39) |
S588R |
possibly damaging |
Het |
| Nmrk1 |
T |
A |
19: 18,622,511 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
C |
T |
7: 45,732,732 (GRCm39) |
A1165V |
possibly damaging |
Het |
| Osmr |
G |
A |
15: 6,845,147 (GRCm39) |
T873I |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,024 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,544 (GRCm39) |
M115K |
probably damaging |
Het |
| Rora |
C |
A |
9: 69,278,572 (GRCm39) |
T299K |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,500,389 (GRCm39) |
P386Q |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,213 (GRCm39) |
E306G |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,521,414 (GRCm39) |
A121S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,332,752 (GRCm39) |
A411V |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,306 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,855,463 (GRCm39) |
N2509K |
probably damaging |
Het |
|
| Other mutations in Det1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Det1
|
APN |
7 |
78,477,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01924:Det1
|
APN |
7 |
78,493,571 (GRCm39) |
nonsense |
probably null |
|
|
IGL02194:Det1
|
APN |
7 |
78,489,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03387:Det1
|
APN |
7 |
78,493,372 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0418:Det1
|
UTSW |
7 |
78,493,765 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0633:Det1
|
UTSW |
7 |
78,493,683 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1959:Det1
|
UTSW |
7 |
78,493,191 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1966:Det1
|
UTSW |
7 |
78,492,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Det1
|
UTSW |
7 |
78,493,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Det1
|
UTSW |
7 |
78,493,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5193:Det1
|
UTSW |
7 |
78,493,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Det1
|
UTSW |
7 |
78,492,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7106:Det1
|
UTSW |
7 |
78,493,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Det1
|
UTSW |
7 |
78,493,359 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8093:Det1
|
UTSW |
7 |
78,493,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9009:Det1
|
UTSW |
7 |
78,492,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9740:Det1
|
UTSW |
7 |
78,494,001 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation