Incidental Mutation 'R7734:Dcaf1'
| ID |
596065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
045790-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106715878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 332
(Y332H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055009
AA Change: Y332H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: Y332H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
LisH
|
845 |
877 |
1.77e-3 |
SMART |
|
low complexity region
|
920 |
945 |
N/A |
INTRINSIC |
|
PDB:4PXW|B
|
1038 |
1392 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1375 |
9e-20 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
3e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1393 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1483 |
N/A |
INTRINSIC |
|
PDB:4P7I|D
|
1484 |
1506 |
2e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159620
|
| SMART Domains |
Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Armet
|
18 |
120 |
1.7e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159645
AA Change: Y332H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: Y332H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
LisH
|
845 |
877 |
1.77e-3 |
SMART |
|
low complexity region
|
920 |
945 |
N/A |
INTRINSIC |
|
PDB:4PXW|B
|
1038 |
1394 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1375 |
1e-19 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
2e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1395 |
1402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161758
AA Change: Y332H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: Y332H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
LisH
|
845 |
877 |
1.77e-3 |
SMART |
|
low complexity region
|
920 |
945 |
N/A |
INTRINSIC |
|
PDB:4PXW|B
|
1038 |
1398 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1308 |
3e-19 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
3e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1399 |
1458 |
N/A |
INTRINSIC |
|
low complexity region
|
1463 |
1489 |
N/A |
INTRINSIC |
|
PDB:4P7I|D
|
1490 |
1512 |
2e-6 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
T |
C |
9: 69,398,764 (GRCm39) |
Y333H |
probably benign |
Het |
| Arid1a |
A |
T |
4: 133,408,679 (GRCm39) |
F1558I |
unknown |
Het |
| Aste1 |
A |
G |
9: 105,274,678 (GRCm39) |
D306G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,596,590 (GRCm39) |
V843A |
possibly damaging |
Het |
| Atrip |
T |
A |
9: 108,894,574 (GRCm39) |
H451L |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,295,664 (GRCm39) |
D200G |
probably damaging |
Het |
| Ceacam19 |
A |
C |
7: 19,620,520 (GRCm39) |
M37R |
probably benign |
Het |
| Cemip |
G |
A |
7: 83,606,872 (GRCm39) |
R782* |
probably null |
Het |
| Cpe |
A |
T |
8: 65,070,654 (GRCm39) |
I197N |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,850 (GRCm39) |
P3307T |
|
Het |
| Cyp4a12b |
C |
A |
4: 115,268,937 (GRCm39) |
Q20K |
possibly damaging |
Het |
| Dclk3 |
A |
G |
9: 111,298,163 (GRCm39) |
H569R |
probably damaging |
Het |
| Dcp1b |
A |
G |
6: 119,192,244 (GRCm39) |
S387G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,819 (GRCm39) |
M590T |
possibly damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,613,268 (GRCm39) |
Q229P |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,977,144 (GRCm38) |
R181G |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,549,735 (GRCm39) |
D735V |
probably damaging |
Het |
| Edem3 |
T |
C |
1: 151,694,336 (GRCm39) |
S890P |
probably benign |
Het |
| Fuom |
A |
G |
7: 139,679,455 (GRCm39) |
L155P |
unknown |
Het |
| Gm6408 |
C |
A |
5: 146,421,160 (GRCm39) |
S263* |
probably null |
Het |
| Helz |
C |
G |
11: 107,576,248 (GRCm39) |
S1814R |
unknown |
Het |
| Hrc |
T |
C |
7: 44,986,100 (GRCm39) |
L417P |
probably benign |
Het |
| Igdcc4 |
A |
C |
9: 65,039,035 (GRCm39) |
H894P |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,930,981 (GRCm39) |
V296L |
probably damaging |
Het |
| Map3k4 |
T |
A |
17: 12,482,998 (GRCm39) |
Y573F |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,746,299 (GRCm39) |
Y296H |
unknown |
Het |
| Mettl21a |
C |
T |
1: 64,647,288 (GRCm39) |
V90M |
probably damaging |
Het |
| Mfsd4b1 |
A |
T |
10: 39,883,374 (GRCm39) |
N25K |
probably damaging |
Het |
| Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,401,108 (GRCm39) |
V3028M |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,998,826 (GRCm39) |
N859I |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,584,034 (GRCm39) |
L36P |
possibly damaging |
Het |
| Nup107 |
C |
A |
10: 117,593,917 (GRCm39) |
E759* |
probably null |
Het |
| Or14a259 |
A |
G |
7: 86,013,476 (GRCm39) |
I23T |
not run |
Het |
| Pcdh7 |
T |
G |
5: 57,876,976 (GRCm39) |
I177S |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,365,938 (GRCm39) |
I221T |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,709,828 (GRCm39) |
N1497I |
probably damaging |
Het |
| Rmc1 |
T |
A |
18: 12,322,320 (GRCm39) |
I591N |
possibly damaging |
Het |
| Rpl4 |
T |
A |
9: 64,084,661 (GRCm39) |
H245Q |
probably benign |
Het |
| Rsf1 |
C |
CCACGGCGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,600 (GRCm39) |
D291G |
possibly damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,583 (GRCm39) |
I422L |
probably benign |
Het |
| Serpina1e |
T |
C |
12: 103,917,151 (GRCm39) |
K173E |
probably benign |
Het |
| Slc5a1 |
C |
T |
5: 33,318,279 (GRCm39) |
T644I |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,314,334 (GRCm39) |
T590S |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,578,658 (GRCm39) |
T938I |
possibly damaging |
Het |
| Stxbp1 |
A |
T |
2: 32,691,832 (GRCm39) |
D453E |
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,829,943 (GRCm39) |
V173L |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,099,368 (GRCm39) |
C146R |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,869,180 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,068,821 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,798,368 (GRCm39) |
G789D |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,258,776 (GRCm39) |
S338N |
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,744,127 (GRCm39) |
Q50* |
probably null |
Het |
| Urgcp |
T |
C |
11: 5,666,406 (GRCm39) |
D687G |
probably benign |
Het |
| Usp13 |
C |
T |
3: 32,892,054 (GRCm39) |
H78Y |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Vwc2 |
G |
A |
11: 11,065,929 (GRCm39) |
A6T |
possibly damaging |
Het |
|
| Other mutations in Dcaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Dcaf1
|
APN |
9 |
106,735,532 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01314:Dcaf1
|
APN |
9 |
106,711,390 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01395:Dcaf1
|
APN |
9 |
106,735,361 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01936:Dcaf1
|
APN |
9 |
106,736,800 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02089:Dcaf1
|
APN |
9 |
106,740,310 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02596:Dcaf1
|
APN |
9 |
106,740,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Dcaf1
|
APN |
9 |
106,721,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL03036:Dcaf1
|
APN |
9 |
106,721,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Dcaf1
|
APN |
9 |
106,735,823 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Americano
|
UTSW |
9 |
106,757,158 (GRCm39) |
nonsense |
probably null |
|
|
Latte
|
UTSW |
9 |
106,723,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL02799:Dcaf1
|
UTSW |
9 |
106,735,139 (GRCm39) |
missense |
probably benign |
0.42 |
|
P0023:Dcaf1
|
UTSW |
9 |
106,737,650 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0087:Dcaf1
|
UTSW |
9 |
106,740,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Dcaf1
|
UTSW |
9 |
106,721,344 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0164:Dcaf1
|
UTSW |
9 |
106,721,344 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0562:Dcaf1
|
UTSW |
9 |
106,721,321 (GRCm39) |
splice site |
probably benign |
|
|
R0690:Dcaf1
|
UTSW |
9 |
106,723,848 (GRCm39) |
splice site |
probably benign |
|
|
R1373:Dcaf1
|
UTSW |
9 |
106,735,079 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1508:Dcaf1
|
UTSW |
9 |
106,731,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Dcaf1
|
UTSW |
9 |
106,741,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Dcaf1
|
UTSW |
9 |
106,729,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2016:Dcaf1
|
UTSW |
9 |
106,716,287 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2017:Dcaf1
|
UTSW |
9 |
106,725,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2017:Dcaf1
|
UTSW |
9 |
106,716,287 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2246:Dcaf1
|
UTSW |
9 |
106,731,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2321:Dcaf1
|
UTSW |
9 |
106,715,672 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4528:Dcaf1
|
UTSW |
9 |
106,721,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Dcaf1
|
UTSW |
9 |
106,724,006 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4648:Dcaf1
|
UTSW |
9 |
106,742,876 (GRCm39) |
unclassified |
probably benign |
|
|
R4742:Dcaf1
|
UTSW |
9 |
106,735,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Dcaf1
|
UTSW |
9 |
106,740,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Dcaf1
|
UTSW |
9 |
106,715,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6057:Dcaf1
|
UTSW |
9 |
106,731,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6335:Dcaf1
|
UTSW |
9 |
106,715,845 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6518:Dcaf1
|
UTSW |
9 |
106,712,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6812:Dcaf1
|
UTSW |
9 |
106,735,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Dcaf1
|
UTSW |
9 |
106,715,803 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6972:Dcaf1
|
UTSW |
9 |
106,723,971 (GRCm39) |
nonsense |
probably null |
|
|
R7175:Dcaf1
|
UTSW |
9 |
106,735,775 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7650:Dcaf1
|
UTSW |
9 |
106,715,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8179:Dcaf1
|
UTSW |
9 |
106,735,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8230:Dcaf1
|
UTSW |
9 |
106,735,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8247:Dcaf1
|
UTSW |
9 |
106,731,427 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8440:Dcaf1
|
UTSW |
9 |
106,725,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8543:Dcaf1
|
UTSW |
9 |
106,735,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8674:Dcaf1
|
UTSW |
9 |
106,740,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Dcaf1
|
UTSW |
9 |
106,724,005 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8807:Dcaf1
|
UTSW |
9 |
106,742,268 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8883:Dcaf1
|
UTSW |
9 |
106,724,839 (GRCm39) |
intron |
probably benign |
|
|
R8953:Dcaf1
|
UTSW |
9 |
106,735,542 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9018:Dcaf1
|
UTSW |
9 |
106,742,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Dcaf1
|
UTSW |
9 |
106,712,831 (GRCm39) |
splice site |
probably benign |
|
|
R9300:Dcaf1
|
UTSW |
9 |
106,725,042 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9414:Dcaf1
|
UTSW |
9 |
106,757,158 (GRCm39) |
nonsense |
probably null |
|
|
R9428:Dcaf1
|
UTSW |
9 |
106,735,528 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9486:Dcaf1
|
UTSW |
9 |
106,735,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9685:Dcaf1
|
UTSW |
9 |
106,713,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9700:Dcaf1
|
UTSW |
9 |
106,735,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9760:Dcaf1
|
UTSW |
9 |
106,751,466 (GRCm39) |
missense |
unknown |
|
|
X0019:Dcaf1
|
UTSW |
9 |
106,711,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGAGTGAACTCAGCAACTAAAC -3'
(R):5'- GAGTGACCTGCATAAGACCTTAC -3'
Sequencing Primer
(F):5'- TCAGCAACTAAACCTGAGGAAG -3'
(R):5'- GACCTGCATAAGACCTTACTAATTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation