Incidental Mutation 'R0548:Dcbld2'
| ID |
44995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcbld2
|
| Ensembl Gene |
ENSMUSG00000035107 |
| Gene Name |
discoidin, CUB and LCCL domain containing 2 |
| Synonyms |
CLCP1, 1700055P21Rik, Esdn |
| MMRRC Submission |
038740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0548 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58228806-58290090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58275508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 408
(D408V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
|
| AlphaFold |
Q91ZV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046663
AA Change: D408V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: D408V
| 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
|
| Meta Mutation Damage Score |
0.8983 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
| Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,650,964 (GRCm39) |
E824D |
probably damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
| Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
| Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
| Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
| H6pd |
A |
T |
4: 150,066,073 (GRCm39) |
V771E |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
| Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
| Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
| Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
| Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
| Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
| Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
| Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
| Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
| Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
| Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
| Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,873,014 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,877,119 (GRCm39) |
V240A |
probably damaging |
Het |
| Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
| Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
| Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGTCCTGACAACTGGGATTG -3'
(R):5'- GCCACACTGGCTCTTTACCTTTGAG -3'
Sequencing Primer
(F):5'- CTTCCAGGTAAAATGTGCAGTG -3'
(R):5'- CCTTTGAGAGTAAACTGACATCCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation