Incidental Mutation 'IGL02953:Dcbld2'
ID |
364987 |
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 # |
IGL02953
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
58228806-58290090 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58272100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 385
(D385E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
|
AlphaFold |
Q91ZV3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046663
AA Change: D385E
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000039915 Gene: ENSMUSG00000035107 AA Change: D385E
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: ENSMUST00000134324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149321
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
probably benign |
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 |
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 |
|
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 |
2015-12-18 |