Incidental Mutation 'R0560:Dele1'
ID |
45847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dele1
|
Ensembl Gene |
ENSMUSG00000024442 |
Gene Name |
DAP3 binding cell death enhancer 1 |
Synonyms |
0610009O20Rik |
MMRRC Submission |
038752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R0560 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38383302-38395682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38387551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 230
(L230Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025314]
|
AlphaFold |
Q9DCV6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025314
AA Change: L230Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025314 Gene: ENSMUSG00000024442 AA Change: L230Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181871
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (26/26) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
probably damaging |
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 |
|
R1899:Dele1
|
UTSW |
18 |
38,391,395 (GRCm39) |
missense |
probably benign |
0.04 |
R3005:Dele1
|
UTSW |
18 |
38,393,012 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- AGCCCAGTGACTTTGACTTCCTGC -3'
(R):5'- ACCATGCCACATCTGGTCTACCTAC -3'
Sequencing Primer
(F):5'- TAGCCGAGACTTCGCATCC -3'
(R):5'- cacatctggtctacctaccCAAG -3'
|
Posted On |
2013-06-11 |