Incidental Mutation 'IGL03131:Dcbld2'
| ID |
410328 |
| 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 # |
IGL03131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58228806-58290090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58272051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 369
(I369R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
|
| AlphaFold |
Q91ZV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046663
AA Change: I369R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: I369R
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
| A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
| Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
| Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
| Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
| Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
| Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,475,979 (GRCm39) |
V672I |
probably benign |
Het |
| Crnkl1 |
T |
C |
2: 145,774,178 (GRCm39) |
K95R |
probably benign |
Het |
| Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
| Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
| Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
| Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
| F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
| Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,314,964 (GRCm39) |
F885I |
probably damaging |
Het |
| Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
| Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
| Mef2c |
T |
C |
13: 83,810,494 (GRCm39) |
I382T |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
| Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
| Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
| Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
| Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
| Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
| Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
| Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,051,937 (GRCm39) |
S357T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
| Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
| Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
| Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
| Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
| Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
| Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
| Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
| Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation