Incidental Mutation 'IGL01997:Dcbld1'
ID |
182111 |
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 # |
IGL01997
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52193206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 246
(E246G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069004]
[ENSMUST00000218582]
|
AlphaFold |
Q9D4J3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069004
AA Change: E317G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000068203 Gene: ENSMUSG00000019891 AA Change: E317G
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: E246G
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 damaging
Transcript: ENSMUST00000218582
AA Change: E246G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
Het |
|
Other mutations in Dcbld1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00654:Dcbld1
|
APN |
10 |
52,188,945 (GRCm39) |
missense |
probably benign |
|
IGL01974:Dcbld1
|
APN |
10 |
52,180,777 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2014-05-07 |