Incidental Mutation 'R2882:Dcaf17'
| ID |
260339 |
| 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 |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70885672-70929486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70912371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 319
(I319V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064141]
[ENSMUST00000102701]
[ENSMUST00000112159]
[ENSMUST00000112167]
[ENSMUST00000135357]
[ENSMUST00000154704]
|
| AlphaFold |
Q3TUL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064141
AA Change: I319V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102701
AA Change: I319V
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112159
AA Change: I283M
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112167
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130292
AA Change: I333V
|
| SMART Domains |
Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: I333V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DCAF17
|
55 |
405 |
6.6e-166 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135357
|
| SMART Domains |
Protein: ENSMUSP00000118011
Gene: ENSMUSG00000041966
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
98 |
117 |
N/A |
INTRINSIC |
|
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154704
AA Change: I319V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136299
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly 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 |
|
R0593:Dcaf17
|
UTSW |
2 |
70,917,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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'- TGCAAGTCCAACCAGAATGAG -3'
(R):5'- CTGGGTGACAAAACACTATTTCCTG -3'
Sequencing Primer
(F):5'- AGATTGGAGGCCATCCTT -3'
(R):5'- TCACAAATGCTGGGTGTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation