Incidental Mutation 'R3005:Dele1'
ID |
257428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dele1
|
Ensembl Gene |
ENSMUSG00000024442 |
Gene Name |
DAP3 binding cell death enhancer 1 |
Synonyms |
0610009O20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R3005 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
38383302-38395682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38393012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 405
(N405K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025314]
|
AlphaFold |
Q9DCV6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025314
AA Change: N405K
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025314 Gene: ENSMUSG00000024442 AA Change: N405K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
23 |
N/A |
INTRINSIC |
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
SEL1
|
244 |
277 |
1.53e2 |
SMART |
SEL1
|
278 |
313 |
2.8e-9 |
SMART |
SEL1
|
314 |
351 |
3.3e1 |
SMART |
SEL1
|
352 |
385 |
1.31e0 |
SMART |
SEL1
|
386 |
421 |
1.67e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cep162 |
C |
A |
9: 87,114,113 (GRCm39) |
V320L |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,450 (GRCm39) |
I355F |
probably damaging |
Het |
Csnk1e |
T |
C |
15: 79,323,005 (GRCm39) |
I15V |
probably benign |
Het |
Exosc8 |
T |
C |
3: 54,639,568 (GRCm39) |
|
probably null |
Het |
Garre1 |
T |
C |
7: 33,984,209 (GRCm39) |
E138G |
probably damaging |
Het |
Gstm3 |
G |
T |
3: 107,874,923 (GRCm39) |
Q110K |
probably benign |
Het |
Hace1 |
G |
A |
10: 45,524,959 (GRCm39) |
G242R |
probably damaging |
Het |
Lcn6 |
T |
A |
2: 25,567,261 (GRCm39) |
|
probably null |
Het |
Msh6 |
A |
G |
17: 88,295,713 (GRCm39) |
E1088G |
probably benign |
Het |
Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
Nup50 |
G |
A |
15: 84,813,661 (GRCm39) |
|
probably null |
Het |
Or51g2 |
C |
T |
7: 102,622,465 (GRCm39) |
V245I |
possibly damaging |
Het |
Ppp2r5a |
A |
T |
1: 191,091,173 (GRCm39) |
F218Y |
probably damaging |
Het |
Ptov1 |
T |
C |
7: 44,513,886 (GRCm39) |
N52S |
probably damaging |
Het |
Rif1 |
G |
A |
2: 51,972,776 (GRCm39) |
A303T |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,298,961 (GRCm39) |
V778E |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,570,978 (GRCm39) |
L258H |
probably damaging |
Het |
Utp20 |
C |
A |
10: 88,613,317 (GRCm39) |
K1321N |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,349,221 (GRCm39) |
Q787L |
probably benign |
Het |
|
Other mutations in Dele1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02216:Dele1
|
APN |
18 |
38,385,913 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02456:Dele1
|
APN |
18 |
38,394,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R0134:Dele1
|
UTSW |
18 |
38,394,317 (GRCm39) |
missense |
probably benign |
0.37 |
R0225:Dele1
|
UTSW |
18 |
38,394,317 (GRCm39) |
missense |
probably benign |
0.37 |
R0511:Dele1
|
UTSW |
18 |
38,387,124 (GRCm39) |
critical splice donor site |
probably null |
|
R0560:Dele1
|
UTSW |
18 |
38,387,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Dele1
|
UTSW |
18 |
38,391,395 (GRCm39) |
missense |
probably benign |
0.04 |
R3552:Dele1
|
UTSW |
18 |
38,391,418 (GRCm39) |
splice site |
probably benign |
|
R4418:Dele1
|
UTSW |
18 |
38,394,340 (GRCm39) |
critical splice donor site |
probably null |
|
R7448:Dele1
|
UTSW |
18 |
38,390,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7671:Dele1
|
UTSW |
18 |
38,392,978 (GRCm39) |
missense |
probably damaging |
0.99 |
R9126:Dele1
|
UTSW |
18 |
38,384,210 (GRCm39) |
missense |
probably benign |
|
R9294:Dele1
|
UTSW |
18 |
38,394,129 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dele1
|
UTSW |
18 |
38,387,356 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCGTTTCATGATCAAGGAGC -3'
(R):5'- ACTCTGAAAGCTGGCCTTCTAAC -3'
Sequencing Primer
(F):5'- TTCATGATCAAGGAGCTTGGAATG -3'
(R):5'- GAAAGCTGGCCTTCTAACTCCTG -3'
|
Posted On |
2015-01-11 |