Incidental Mutation 'IGL00477:Dapl1'
| ID |
7200 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dapl1
|
| Ensembl Gene |
ENSMUSG00000026989 |
| Gene Name |
death associated protein-like 1 |
| Synonyms |
2310032F03Rik, EEDA |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL00477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
59314997-59335364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59324832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028369]
|
| AlphaFold |
Q9D757 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028369
AA Change: S28P
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028369
Gene: ENSMUSG00000026989
AA Change: S28P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAP
|
13 |
106 |
4.2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144415
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,632,867 (GRCm39) |
|
noncoding transcript |
Het |
| Bmal2 |
A |
G |
6: 146,728,827 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,141,468 (GRCm39) |
T575A |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,890,918 (GRCm39) |
E283V |
probably damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,732,647 (GRCm39) |
V323I |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,180 (GRCm39) |
G581C |
probably damaging |
Het |
| Igsf5 |
A |
G |
16: 96,192,220 (GRCm39) |
E173G |
possibly damaging |
Het |
| Mat1a |
T |
C |
14: 40,827,651 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
T |
A |
9: 7,476,260 (GRCm39) |
D452E |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,150,388 (GRCm39) |
M879K |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Qrsl1 |
G |
T |
10: 43,752,488 (GRCm39) |
T445N |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,577,138 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,658,128 (GRCm39) |
M259T |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,818,301 (GRCm39) |
V543A |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,418,879 (GRCm39) |
T3009I |
probably damaging |
Het |
| Usp7 |
A |
T |
16: 8,515,839 (GRCm39) |
I661N |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,519,006 (GRCm39) |
L751R |
probably damaging |
Het |
|
| Other mutations in Dapl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Dapl1
|
APN |
2 |
59,324,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Dapl1
|
UTSW |
2 |
59,326,938 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1635:Dapl1
|
UTSW |
2 |
59,326,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4584:Dapl1
|
UTSW |
2 |
59,335,086 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4698:Dapl1
|
UTSW |
2 |
59,335,118 (GRCm39) |
nonsense |
probably null |
|
|
R4718:Dapl1
|
UTSW |
2 |
59,315,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6056:Dapl1
|
UTSW |
2 |
59,315,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6171:Dapl1
|
UTSW |
2 |
59,326,946 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7940:Dapl1
|
UTSW |
2 |
59,315,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8819:Dapl1
|
UTSW |
2 |
59,335,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8820:Dapl1
|
UTSW |
2 |
59,335,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation