Incidental Mutation 'IGL03327:Dcaf1'
| ID |
416700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106735823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 924
(S924P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055009
AA Change: S924P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: S924P
| 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 |
possibly damaging
Transcript: ENSMUST00000159645
AA Change: S924P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: S924P
| 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 |
possibly damaging
Transcript: ENSMUST00000161758
AA Change: S924P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: S924P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188343
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
| Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
| Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
| Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,425,388 (GRCm39) |
E69G |
probably damaging |
Het |
| Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
| Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
| Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
| Lig1 |
T |
G |
7: 13,037,781 (GRCm39) |
I677S |
probably damaging |
Het |
| Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
| Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
| Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
| Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
| Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
| Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation