Incidental Mutation 'R0661:Dcaf17'
| ID |
61825 |
| 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 |
038846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R0661 (G1)
|
| Quality Score |
153 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70885672-70929486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70918779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 451
(L451P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064141]
[ENSMUST00000102701]
[ENSMUST00000112159]
[ENSMUST00000112167]
[ENSMUST00000154704]
|
| AlphaFold |
Q3TUL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064141
AA Change: L451P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102701
AA Change: L451P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 damaging
Transcript: ENSMUST00000154704
AA Change: L451P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
| Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
| Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
| Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
| Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
| Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
| Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
| Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
| Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
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 |
|
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'- AACATGTGGAAATCTGGAGAATGACCC -3'
(R):5'- GGTGAATCTGGACTGATATGGACATGG -3'
Sequencing Primer
(F):5'- CTGGAGAATGACCCATGTTTTATG -3'
(R):5'- GACATGGTCTAATAAATGGCACCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation