Incidental Mutation 'R6093:Dcaf17'
| ID |
486026 |
| 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 |
044250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R6093 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70885672-70929486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70912356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 314
(K314E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064141]
[ENSMUST00000102701]
[ENSMUST00000112159]
[ENSMUST00000112167]
[ENSMUST00000135357]
[ENSMUST00000154704]
|
| AlphaFold |
Q3TUL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064141
AA Change: K314E
PolyPhen 2
Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102701
AA Change: K314E
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112167
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130292
AA Change: K328E
|
| SMART Domains |
Protein: ENSMUSP00000117830
Gene: ENSMUSG00000041966
AA Change: K328E
| 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 |
probably benign
Transcript: ENSMUST00000154704
AA Change: K314E
PolyPhen 2
Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136299
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
| Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
| Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
| Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
| Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
| Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
| Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
| Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
| Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
| Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
| Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- ACTTAATGACGGGTGCAAGTC -3'
(R):5'- GGGTGACAAAACACTATTTCCTG -3'
Sequencing Primer
(F):5'- GTGCAAGTCCAACCAGAATG -3'
(R):5'- ACATGCCTTTAATCCCAGCATTGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation