Incidental Mutation 'IGL02194:Det1'
| ID |
284002 |
| 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: 0.754)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78471295-78497011 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78489912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 371
(V371E)
|
| 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: V371E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: V371E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Det1
|
142 |
547 |
2.6e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107431
AA Change: V40E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103054
Gene: ENSMUSG00000030610
AA Change: V40E
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Det1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00811:Det1
|
APN |
7 |
78,489,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01611:Det1
|
APN |
7 |
78,477,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01924:Det1
|
APN |
7 |
78,493,571 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation