Incidental Mutation 'BB003:Dcaf4'
| ID |
642230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf4
|
| Ensembl Gene |
ENSMUSG00000021222 |
| Gene Name |
DDB1 and CUL4 associated factor 4 |
| Synonyms |
Wdr21, 1110018E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
BB003
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83567240-83588694 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 83580703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 212
(Y212*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021645]
[ENSMUST00000222502]
[ENSMUST00000223291]
|
| AlphaFold |
A0A1Y7VNZ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021645
AA Change: Y199*
|
| SMART Domains |
Protein: ENSMUSP00000021645
Gene: ENSMUSG00000021222
AA Change: Y199*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Blast:WD40
|
274 |
313 |
2e-14 |
BLAST |
|
WD40
|
361 |
399 |
8.36e-2 |
SMART |
|
WD40
|
402 |
443 |
7.4e0 |
SMART |
|
Blast:WD40
|
446 |
494 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222502
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223291
AA Change: Y212*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
All alleles(39) : Gene trapped(39) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
| Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
| Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
| Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
| Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
| Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
| Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
| Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
| Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
| Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
| Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
| Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
| Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
| Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
|
| Other mutations in Dcaf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Dcaf4
|
APN |
12 |
83,586,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Dcaf4
|
APN |
12 |
83,588,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Dcaf4
|
APN |
12 |
83,576,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02970:Dcaf4
|
APN |
12 |
83,575,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB013:Dcaf4
|
UTSW |
12 |
83,580,703 (GRCm39) |
nonsense |
probably null |
|
|
F5770:Dcaf4
|
UTSW |
12 |
83,584,475 (GRCm39) |
splice site |
probably null |
|
|
PIT4504001:Dcaf4
|
UTSW |
12 |
83,580,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0032:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0164:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0167:Dcaf4
|
UTSW |
12 |
83,582,762 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Dcaf4
|
UTSW |
12 |
83,582,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Dcaf4
|
UTSW |
12 |
83,582,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Dcaf4
|
UTSW |
12 |
83,584,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1191:Dcaf4
|
UTSW |
12 |
83,582,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Dcaf4
|
UTSW |
12 |
83,586,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Dcaf4
|
UTSW |
12 |
83,586,233 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4932:Dcaf4
|
UTSW |
12 |
83,579,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5882:Dcaf4
|
UTSW |
12 |
83,586,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7084:Dcaf4
|
UTSW |
12 |
83,584,571 (GRCm39) |
frame shift |
probably null |
|
|
R7564:Dcaf4
|
UTSW |
12 |
83,588,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7777:Dcaf4
|
UTSW |
12 |
83,584,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7926:Dcaf4
|
UTSW |
12 |
83,580,703 (GRCm39) |
nonsense |
probably null |
|
|
R8290:Dcaf4
|
UTSW |
12 |
83,588,333 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9418:Dcaf4
|
UTSW |
12 |
83,586,606 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9486:Dcaf4
|
UTSW |
12 |
83,582,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9735:Dcaf4
|
UTSW |
12 |
83,572,939 (GRCm39) |
missense |
probably benign |
|
|
V7583:Dcaf4
|
UTSW |
12 |
83,584,475 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGTGAGATCACTTTGTTG -3'
(R):5'- AAGTGAGTCAACTGCTCCTGG -3'
Sequencing Primer
(F):5'- GATCACTTTGTTGGCGTGTACTCAC -3'
(R):5'- AACTGCTCCTGGATTCTTCACAAAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation