Incidental Mutation 'R0593:Dcaf17'
ID |
56048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf17
|
Ensembl Gene |
ENSMUSG00000041966 |
Gene Name |
DDB1 and CUL4 associated factor 17 |
Synonyms |
4833418A01Rik, 2810055O12Rik, A030004A10Rik, A930009G19Rik |
MMRRC Submission |
038783-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R0593 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
70885672-70929486 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 70917744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064141]
[ENSMUST00000102701]
[ENSMUST00000112159]
[ENSMUST00000112167]
[ENSMUST00000154704]
|
AlphaFold |
Q3TUL7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000064141
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112159
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112167
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130292
|
SMART Domains |
Protein: ENSMUSP00000117830 Gene: ENSMUSG00000041966
Domain | Start | End | E-Value | Type |
Pfam:DCAF17
|
55 |
405 |
6.6e-166 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154704
|
Meta Mutation Damage Score |
0.9490 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,537,156 (GRCm39) |
G29* |
probably null |
Het |
Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
Other mutations in Dcaf17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Dcaf17
|
APN |
2 |
70,908,503 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01125:Dcaf17
|
APN |
2 |
70,920,149 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01761:Dcaf17
|
APN |
2 |
70,886,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02641:Dcaf17
|
APN |
2 |
70,912,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Dcaf17
|
UTSW |
2 |
70,908,812 (GRCm39) |
splice site |
probably benign |
|
R0388:Dcaf17
|
UTSW |
2 |
70,908,915 (GRCm39) |
missense |
probably benign |
0.02 |
R0637:Dcaf17
|
UTSW |
2 |
70,890,763 (GRCm39) |
missense |
probably damaging |
0.99 |
R0661:Dcaf17
|
UTSW |
2 |
70,918,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1281:Dcaf17
|
UTSW |
2 |
70,908,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Dcaf17
|
UTSW |
2 |
70,903,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1501:Dcaf17
|
UTSW |
2 |
70,912,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Dcaf17
|
UTSW |
2 |
70,890,713 (GRCm39) |
nonsense |
probably null |
|
R1919:Dcaf17
|
UTSW |
2 |
70,908,516 (GRCm39) |
splice site |
probably null |
|
R2882:Dcaf17
|
UTSW |
2 |
70,912,371 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4585:Dcaf17
|
UTSW |
2 |
70,918,924 (GRCm39) |
missense |
probably benign |
0.00 |
R4586:Dcaf17
|
UTSW |
2 |
70,918,924 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Dcaf17
|
UTSW |
2 |
70,912,356 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7070:Dcaf17
|
UTSW |
2 |
70,918,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8289:Dcaf17
|
UTSW |
2 |
70,885,718 (GRCm39) |
missense |
|
|
R8418:Dcaf17
|
UTSW |
2 |
70,918,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Dcaf17
|
UTSW |
2 |
70,886,913 (GRCm39) |
nonsense |
probably null |
|
R8786:Dcaf17
|
UTSW |
2 |
70,917,744 (GRCm39) |
critical splice donor site |
probably null |
|
R8879:Dcaf17
|
UTSW |
2 |
70,893,746 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9072:Dcaf17
|
UTSW |
2 |
70,920,136 (GRCm39) |
missense |
probably benign |
0.01 |
R9312:Dcaf17
|
UTSW |
2 |
70,908,458 (GRCm39) |
missense |
probably benign |
0.01 |
R9460:Dcaf17
|
UTSW |
2 |
70,917,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTTAGTGTATAAGCTGAGGCCC -3'
(R):5'- TGTGAAAACTGCAATGAGACCCCAG -3'
Sequencing Primer
(F):5'- GAGGTTTCTGAACTCAGATCCAC -3'
(R):5'- ACCCCAGAAGGGGGTGAC -3'
|
Posted On |
2013-07-11 |