Incidental Mutation 'IGL02811:Dcbld1'
| ID |
360569 |
| 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 # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52196069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 426
(T426A)
|
| 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: T497A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: T497A
| 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: T426A
| 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: T426A
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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
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 |
|
IGL01997:Dcbld1
|
APN |
10 |
52,193,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-12-18 |
Incidental Mutation