Incidental Mutation 'IGL01456:Dcbld2'
ID |
84797 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dcbld2
|
Ensembl Gene |
ENSMUSG00000035107 |
Gene Name |
discoidin, CUB and LCCL domain containing 2 |
Synonyms |
CLCP1, 1700055P21Rik, Esdn |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01456
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
58228806-58290090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58229236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 40
(P40S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
|
AlphaFold |
Q91ZV3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046663
AA Change: P40S
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000039915 Gene: ENSMUSG00000035107 AA Change: P40S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
34 |
N/A |
INTRINSIC |
CUB
|
69 |
184 |
4.26e-37 |
SMART |
LCCL
|
188 |
273 |
4.74e-37 |
SMART |
FA58C
|
288 |
446 |
4.08e-28 |
SMART |
transmembrane domain
|
522 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133622
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced postnatal angiogenesis and impaired recovery from femoral artery ligation with impaired blood flow and decreased capillary density. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,252,595 (GRCm39) |
C242R |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,453,791 (GRCm39) |
L175P |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,341,510 (GRCm39) |
E938G |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,114,036 (GRCm39) |
N208D |
probably benign |
Het |
Atr |
A |
G |
9: 95,832,618 (GRCm39) |
H2556R |
possibly damaging |
Het |
Cald1 |
A |
T |
6: 34,741,931 (GRCm39) |
D438V |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,096,863 (GRCm39) |
M590I |
possibly damaging |
Het |
Gm1818 |
A |
T |
12: 48,602,583 (GRCm39) |
|
noncoding transcript |
Het |
Hace1 |
A |
G |
10: 45,586,094 (GRCm39) |
|
probably benign |
Het |
Igkv10-96 |
A |
G |
6: 68,609,086 (GRCm39) |
Y70H |
probably benign |
Het |
Kdm2a |
G |
T |
19: 4,401,783 (GRCm39) |
H200Q |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,499,602 (GRCm39) |
D111G |
possibly damaging |
Het |
Map7 |
A |
G |
10: 20,149,550 (GRCm39) |
E567G |
unknown |
Het |
Nbeal1 |
G |
T |
1: 60,269,787 (GRCm39) |
L375F |
probably damaging |
Het |
Nectin3 |
T |
C |
16: 46,279,216 (GRCm39) |
E254G |
probably benign |
Het |
Nlrp4b |
A |
T |
7: 10,448,150 (GRCm39) |
I118F |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,269,683 (GRCm39) |
V3287D |
probably damaging |
Het |
Ptpre |
T |
G |
7: 135,271,531 (GRCm39) |
V375G |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,431,187 (GRCm39) |
E746G |
probably damaging |
Het |
Sh2b2 |
C |
T |
5: 136,253,321 (GRCm39) |
C311Y |
probably damaging |
Het |
Skor1 |
G |
A |
9: 63,052,772 (GRCm39) |
T399I |
probably damaging |
Het |
Sptbn2 |
A |
G |
19: 4,796,777 (GRCm39) |
T1792A |
probably damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tln1 |
G |
A |
4: 43,543,432 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
C |
A |
7: 118,146,533 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tpte |
A |
G |
8: 22,835,068 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,097,211 (GRCm39) |
R1228W |
probably damaging |
Het |
Vipr1 |
C |
T |
9: 121,494,244 (GRCm39) |
T275M |
probably damaging |
Het |
Vmn1r177 |
G |
T |
7: 23,565,753 (GRCm39) |
P41Q |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
Other mutations in Dcbld2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01978:Dcbld2
|
APN |
16 |
58,284,682 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02143:Dcbld2
|
APN |
16 |
58,268,889 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02953:Dcbld2
|
APN |
16 |
58,272,100 (GRCm39) |
missense |
probably benign |
0.29 |
IGL03109:Dcbld2
|
APN |
16 |
58,276,765 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03131:Dcbld2
|
APN |
16 |
58,272,051 (GRCm39) |
missense |
probably benign |
0.00 |
R0183:Dcbld2
|
UTSW |
16 |
58,265,722 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0305:Dcbld2
|
UTSW |
16 |
58,269,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R0316:Dcbld2
|
UTSW |
16 |
58,253,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Dcbld2
|
UTSW |
16 |
58,271,186 (GRCm39) |
missense |
probably benign |
0.09 |
R0548:Dcbld2
|
UTSW |
16 |
58,275,508 (GRCm39) |
missense |
probably damaging |
0.98 |
R0751:Dcbld2
|
UTSW |
16 |
58,270,204 (GRCm39) |
critical splice donor site |
probably null |
|
R0906:Dcbld2
|
UTSW |
16 |
58,275,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Dcbld2
|
UTSW |
16 |
58,270,204 (GRCm39) |
critical splice donor site |
probably null |
|
R1557:Dcbld2
|
UTSW |
16 |
58,285,713 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1995:Dcbld2
|
UTSW |
16 |
58,276,695 (GRCm39) |
missense |
probably benign |
|
R3930:Dcbld2
|
UTSW |
16 |
58,285,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R3931:Dcbld2
|
UTSW |
16 |
58,285,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Dcbld2
|
UTSW |
16 |
58,285,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R4385:Dcbld2
|
UTSW |
16 |
58,283,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R4615:Dcbld2
|
UTSW |
16 |
58,276,457 (GRCm39) |
missense |
probably benign |
0.03 |
R4739:Dcbld2
|
UTSW |
16 |
58,281,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Dcbld2
|
UTSW |
16 |
58,286,145 (GRCm39) |
missense |
probably benign |
|
R4968:Dcbld2
|
UTSW |
16 |
58,245,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R5419:Dcbld2
|
UTSW |
16 |
58,275,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R5684:Dcbld2
|
UTSW |
16 |
58,270,172 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5737:Dcbld2
|
UTSW |
16 |
58,281,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Dcbld2
|
UTSW |
16 |
58,285,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Dcbld2
|
UTSW |
16 |
58,272,119 (GRCm39) |
missense |
probably damaging |
0.97 |
R6468:Dcbld2
|
UTSW |
16 |
58,253,736 (GRCm39) |
nonsense |
probably null |
|
R6753:Dcbld2
|
UTSW |
16 |
58,276,493 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7213:Dcbld2
|
UTSW |
16 |
58,271,126 (GRCm39) |
missense |
probably benign |
0.02 |
R7360:Dcbld2
|
UTSW |
16 |
58,285,683 (GRCm39) |
splice site |
probably null |
|
R7555:Dcbld2
|
UTSW |
16 |
58,269,081 (GRCm39) |
splice site |
probably null |
|
R7570:Dcbld2
|
UTSW |
16 |
58,244,932 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7593:Dcbld2
|
UTSW |
16 |
58,244,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8072:Dcbld2
|
UTSW |
16 |
58,283,460 (GRCm39) |
nonsense |
probably null |
|
R8175:Dcbld2
|
UTSW |
16 |
58,253,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8193:Dcbld2
|
UTSW |
16 |
58,284,373 (GRCm39) |
splice site |
probably null |
|
R8323:Dcbld2
|
UTSW |
16 |
58,283,473 (GRCm39) |
critical splice donor site |
probably null |
|
R8804:Dcbld2
|
UTSW |
16 |
58,281,412 (GRCm39) |
critical splice donor site |
probably benign |
|
R8887:Dcbld2
|
UTSW |
16 |
58,229,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Dcbld2
|
UTSW |
16 |
58,271,125 (GRCm39) |
missense |
|
|
R8971:Dcbld2
|
UTSW |
16 |
58,276,715 (GRCm39) |
missense |
probably benign |
|
R9335:Dcbld2
|
UTSW |
16 |
58,272,141 (GRCm39) |
missense |
probably benign |
0.01 |
R9384:Dcbld2
|
UTSW |
16 |
58,285,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R9496:Dcbld2
|
UTSW |
16 |
58,271,164 (GRCm39) |
missense |
probably benign |
0.00 |
R9517:Dcbld2
|
UTSW |
16 |
58,253,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-11-11 |