Incidental Mutation 'R5876:Dcaf1'
| ID |
490529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5876 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106740849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1279
(W1279R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055009
AA Change: W1279R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: W1279R
| 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: W1279R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: W1279R
| 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: W1279R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: W1279R
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,796,654 (GRCm39) |
D64G |
possibly damaging |
Het |
| Ano2 |
T |
A |
6: 126,016,242 (GRCm39) |
M925K |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,996,720 (GRCm39) |
T69A |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,262,810 (GRCm39) |
N229K |
possibly damaging |
Het |
| Atp13a3 |
T |
A |
16: 30,181,552 (GRCm39) |
N23Y |
probably benign |
Het |
| Cbr4 |
G |
A |
8: 61,943,627 (GRCm39) |
G91R |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,406,244 (GRCm39) |
C624S |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,209 (GRCm39) |
Y645C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,321,259 (GRCm39) |
V518I |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,821 (GRCm39) |
T761A |
possibly damaging |
Het |
| Cpne4 |
C |
A |
9: 104,802,969 (GRCm39) |
S204R |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,819,037 (GRCm39) |
P1731S |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,004,051 (GRCm39) |
V892D |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,298,182 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,399,132 (GRCm39) |
D657V |
possibly damaging |
Het |
| Fam83e |
T |
A |
7: 45,371,787 (GRCm39) |
|
probably null |
Het |
| Fbxo4 |
A |
T |
15: 4,007,301 (GRCm39) |
I121N |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,859,647 (GRCm39) |
S202P |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,640,146 (GRCm39) |
I788N |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,599,319 (GRCm39) |
N53Y |
probably damaging |
Het |
| Hipk2 |
A |
C |
6: 38,707,802 (GRCm39) |
|
probably null |
Het |
| Hps5 |
T |
C |
7: 46,438,620 (GRCm39) |
T38A |
probably damaging |
Het |
| Hs1bp3 |
A |
G |
12: 8,391,843 (GRCm39) |
D315G |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 117,996,073 (GRCm39) |
M985I |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,491 (GRCm39) |
S295P |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,720,791 (GRCm39) |
D413E |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,164,657 (GRCm39) |
F319L |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,910 (GRCm39) |
Y411N |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,203,711 (GRCm39) |
E1863* |
probably null |
Het |
| Mrps9 |
A |
G |
1: 42,934,538 (GRCm39) |
E173G |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,191 (GRCm39) |
I51F |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,850,528 (GRCm39) |
T692A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,441,984 (GRCm39) |
H3641L |
possibly damaging |
Het |
| Pml |
T |
C |
9: 58,140,465 (GRCm39) |
T421A |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,505,391 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Prkag3 |
A |
G |
1: 74,787,975 (GRCm39) |
|
probably benign |
Het |
| Proz |
A |
G |
8: 13,123,448 (GRCm39) |
R240G |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,624,826 (GRCm39) |
D43E |
probably damaging |
Het |
| Rbm5 |
T |
G |
9: 107,637,525 (GRCm39) |
K135N |
probably damaging |
Het |
| Ska1 |
G |
A |
18: 74,330,599 (GRCm39) |
T201M |
probably damaging |
Het |
| Slc35f5 |
A |
C |
1: 125,515,100 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,842 (GRCm39) |
L510P |
probably damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,716 (GRCm39) |
E237G |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,828 (GRCm39) |
K1231E |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,813,439 (GRCm39) |
S1628P |
possibly damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,229,023 (GRCm39) |
D260V |
probably damaging |
Het |
| Ttc9 |
G |
T |
12: 81,678,396 (GRCm39) |
R73L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,917,207 (GRCm39) |
I3684V |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,280,189 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
A |
1: 37,115,520 (GRCm39) |
I328N |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,687,366 (GRCm39) |
V222M |
probably benign |
Het |
| Xpnpep1 |
T |
A |
19: 52,985,439 (GRCm39) |
T530S |
probably damaging |
Het |
| Zc3h6 |
C |
T |
2: 128,835,197 (GRCm39) |
S111F |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,718 (GRCm39) |
P137S |
probably benign |
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 |
|
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 |
|
R7734:Dcaf1
|
UTSW |
9 |
106,715,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACAGCAATCAGTAATACATGTTGGC -3'
(R):5'- TCTAAGCTACCTGAGACCCTG -3'
Sequencing Primer
(F):5'- ATGCAGTGCAGAGTGCT -3'
(R):5'- GCCTTTTAGCCTAAATCAACAAAATG -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation