Incidental Mutation 'IGL00654:Dcbld1'
| ID |
10082 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcbld1
|
| Ensembl Gene |
ENSMUSG00000019891 |
| Gene Name |
discoidin, CUB and LCCL domain containing 1 |
| Synonyms |
4631413K11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 52188945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 186
(I186L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069004]
[ENSMUST00000218582]
|
| AlphaFold |
Q9D4J3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069004
AA Change: I257L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: I257L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CUB
|
32 |
141 |
6.42e-23 |
SMART |
|
Pfam:LCCL
|
147 |
239 |
4.5e-19 |
PFAM |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000101116
Gene: ENSMUSG00000019891
AA Change: I186L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1sfp__
|
28 |
69 |
3e-6 |
SMART |
|
Pfam:LCCL
|
76 |
168 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218582
AA Change: I186L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
C |
14: 68,886,877 (GRCm39) |
T46A |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,230,669 (GRCm39) |
S1473L |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dgkh |
A |
C |
14: 78,847,033 (GRCm39) |
M367R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,017,725 (GRCm39) |
D622G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,234,170 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
G |
T |
7: 106,795,351 (GRCm39) |
L211F |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,754,361 (GRCm39) |
|
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,774 (GRCm39) |
D384V |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,905,172 (GRCm39) |
I1708V |
possibly damaging |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Prdx1 |
C |
T |
4: 116,550,147 (GRCm39) |
R110C |
probably benign |
Het |
| Prep |
C |
T |
10: 44,991,269 (GRCm39) |
R312W |
probably damaging |
Het |
| Rpap2 |
A |
T |
5: 107,751,497 (GRCm39) |
|
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,644,747 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
G |
T |
5: 129,882,918 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,538 (GRCm39) |
T359A |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,511,233 (GRCm39) |
G339E |
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,305,607 (GRCm39) |
L392P |
probably damaging |
Het |
| Wbp2nl |
T |
C |
15: 82,198,411 (GRCm39) |
V316A |
probably benign |
Het |
|
| Other mutations in Dcbld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01974:Dcbld1
|
APN |
10 |
52,180,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01997:Dcbld1
|
APN |
10 |
52,193,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02811:Dcbld1
|
APN |
10 |
52,196,069 (GRCm39) |
missense |
probably benign |
|
|
IGL03011:Dcbld1
|
APN |
10 |
52,160,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03329:Dcbld1
|
APN |
10 |
52,195,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03048:Dcbld1
|
UTSW |
10 |
52,180,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0392:Dcbld1
|
UTSW |
10 |
52,193,230 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0532:Dcbld1
|
UTSW |
10 |
52,193,173 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0561:Dcbld1
|
UTSW |
10 |
52,138,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0625:Dcbld1
|
UTSW |
10 |
52,188,946 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0907:Dcbld1
|
UTSW |
10 |
52,137,910 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1567:Dcbld1
|
UTSW |
10 |
52,195,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Dcbld1
|
UTSW |
10 |
52,195,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1915:Dcbld1
|
UTSW |
10 |
52,193,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1921:Dcbld1
|
UTSW |
10 |
52,195,747 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2119:Dcbld1
|
UTSW |
10 |
52,196,075 (GRCm39) |
missense |
probably benign |
|
|
R2163:Dcbld1
|
UTSW |
10 |
52,162,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Dcbld1
|
UTSW |
10 |
52,195,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3196:Dcbld1
|
UTSW |
10 |
52,195,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3788:Dcbld1
|
UTSW |
10 |
52,195,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Dcbld1
|
UTSW |
10 |
52,160,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4904:Dcbld1
|
UTSW |
10 |
52,196,066 (GRCm39) |
nonsense |
probably null |
|
|
R5177:Dcbld1
|
UTSW |
10 |
52,180,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Dcbld1
|
UTSW |
10 |
52,160,353 (GRCm39) |
intron |
probably benign |
|
|
R5456:Dcbld1
|
UTSW |
10 |
52,190,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Dcbld1
|
UTSW |
10 |
52,180,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Dcbld1
|
UTSW |
10 |
52,195,576 (GRCm39) |
nonsense |
probably null |
|
|
R6421:Dcbld1
|
UTSW |
10 |
52,162,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Dcbld1
|
UTSW |
10 |
52,166,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7738:Dcbld1
|
UTSW |
10 |
52,188,922 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7993:Dcbld1
|
UTSW |
10 |
52,137,884 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Dcbld1
|
UTSW |
10 |
52,109,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Dcbld1
|
UTSW |
10 |
52,195,958 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9201:Dcbld1
|
UTSW |
10 |
52,138,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9217:Dcbld1
|
UTSW |
10 |
52,138,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation