Incidental Mutation 'IGL01974:Dcbld1'
| ID |
181685 |
| 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 # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52180777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 147
(H147R)
|
| 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: H218R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: H218R
| 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: H147R
| 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: H147R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation