Incidental Mutation 'IGL01978:Dcbld2'
| ID |
181788 |
| 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 # |
IGL01978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58228806-58290090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58284682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 612
(D612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
[ENSMUST00000137035]
|
| AlphaFold |
Q91ZV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046663
AA Change: D612G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: D612G
| 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: ENSMUST00000130409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137035
|
| SMART Domains |
Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
63 |
329 |
6.2e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150817
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,164 (GRCm39) |
T6S |
probably damaging |
Het |
| Acot5 |
T |
C |
12: 84,122,172 (GRCm39) |
V252A |
possibly damaging |
Het |
| Bmper |
A |
T |
9: 23,292,737 (GRCm39) |
N349Y |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
G |
A |
4: 120,901,863 (GRCm39) |
G139E |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,248,866 (GRCm39) |
N1805I |
probably damaging |
Het |
| Cyp2j8 |
A |
C |
4: 96,392,246 (GRCm39) |
|
probably null |
Het |
| Dsc3 |
C |
T |
18: 20,107,253 (GRCm39) |
R456Q |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,972 (GRCm39) |
T3253A |
probably benign |
Het |
| Hoxc12 |
T |
A |
15: 102,845,299 (GRCm39) |
H4Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,633,891 (GRCm39) |
E445G |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,787 (GRCm39) |
E937G |
probably benign |
Het |
| Kif5a |
A |
C |
10: 127,081,608 (GRCm39) |
D185E |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,178,485 (GRCm39) |
D495G |
probably damaging |
Het |
| Klra5 |
A |
G |
6: 129,888,393 (GRCm39) |
V11A |
probably benign |
Het |
| Lrch1 |
G |
A |
14: 75,023,782 (GRCm39) |
T581M |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,017,315 (GRCm39) |
I450T |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,312 (GRCm39) |
V138L |
probably damaging |
Het |
| Muc15 |
G |
A |
2: 110,561,941 (GRCm39) |
A126T |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,367,632 (GRCm39) |
I522K |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,703,444 (GRCm39) |
R234H |
probably damaging |
Het |
| Or5b98 |
T |
C |
19: 12,931,406 (GRCm39) |
F151S |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Pdia6 |
T |
A |
12: 17,324,423 (GRCm39) |
H91Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,858,010 (GRCm39) |
H445L |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,336 (GRCm39) |
T314A |
unknown |
Het |
| Rb1cc1 |
A |
G |
1: 6,308,592 (GRCm39) |
D159G |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,031 (GRCm39) |
S100R |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,868,816 (GRCm39) |
D618E |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,817,116 (GRCm39) |
V4A |
probably damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,541 (GRCm39) |
M1L |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,331,005 (GRCm39) |
N1379S |
probably benign |
Het |
| Tmed3 |
T |
C |
9: 89,586,806 (GRCm39) |
D58G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,596 (GRCm39) |
A240V |
probably benign |
Het |
| Ubox5 |
A |
T |
2: 130,442,372 (GRCm39) |
V105E |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,800,649 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,837,925 (GRCm39) |
H1825R |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,197 (GRCm39) |
P329T |
unknown |
Het |
| Wee2 |
T |
C |
6: 40,432,087 (GRCm39) |
F219L |
probably damaging |
Het |
| Zp3r |
T |
C |
1: 130,526,678 (GRCm39) |
D175G |
probably damaging |
Het |
|
| Other mutations in Dcbld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Dcbld2
|
APN |
16 |
58,229,236 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
2014-05-07 |
Incidental Mutation