Incidental Mutation 'IGL02828:Dcaf1'
| ID |
361325 |
| 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 # |
IGL02828
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 106721501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055009
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
| 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 benign
Transcript: ENSMUST00000159645
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
| 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 benign
Transcript: ENSMUST00000161758
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
| 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 |
|
| 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 |
|---|
| Abca8b |
G |
A |
11: 109,871,720 (GRCm39) |
T86I |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,884,319 (GRCm39) |
S93N |
possibly damaging |
Het |
| Adamts6 |
T |
C |
13: 104,433,978 (GRCm39) |
Y136H |
probably damaging |
Het |
| Ahdc1 |
A |
T |
4: 132,790,232 (GRCm39) |
K491I |
possibly damaging |
Het |
| Alb |
C |
A |
5: 90,615,247 (GRCm39) |
A253E |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,923,932 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,718 (GRCm39) |
N1909K |
possibly damaging |
Het |
| Atosa |
G |
T |
9: 74,913,714 (GRCm39) |
A123S |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,613,599 (GRCm39) |
V457D |
possibly damaging |
Het |
| Atxn7 |
G |
T |
14: 14,090,056 (GRCm38) |
G334W |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
| Clec2h |
T |
A |
6: 128,652,885 (GRCm39) |
H217Q |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,281 (GRCm39) |
E1416G |
probably damaging |
Het |
| Ddr2 |
C |
T |
1: 169,816,082 (GRCm39) |
A542T |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,909,247 (GRCm39) |
N174S |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,875,512 (GRCm39) |
S151P |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,461 (GRCm39) |
I206T |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,041 (GRCm39) |
I131N |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,682,864 (GRCm39) |
V276I |
possibly damaging |
Het |
| Gpr146 |
A |
T |
5: 139,378,576 (GRCm39) |
Y126F |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,954,929 (GRCm39) |
K1082* |
probably null |
Het |
| Ifnar1 |
T |
A |
16: 91,302,304 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,829,057 (GRCm39) |
V25A |
probably benign |
Het |
| Klhl2 |
C |
A |
8: 65,232,791 (GRCm39) |
R162L |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,244 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,305,639 (GRCm39) |
N303S |
probably benign |
Het |
| Mtpap |
A |
T |
18: 4,386,207 (GRCm39) |
N276Y |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,120,885 (GRCm39) |
G684S |
possibly damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,799 (GRCm39) |
R235G |
probably benign |
Het |
| Or14a256 |
A |
T |
7: 86,265,277 (GRCm39) |
V192E |
possibly damaging |
Het |
| Pak2 |
A |
T |
16: 31,840,674 (GRCm39) |
L469H |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,903 (GRCm39) |
L45Q |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,098,575 (GRCm39) |
|
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,709 (GRCm39) |
T386A |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,756,298 (GRCm39) |
T1645A |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,356,941 (GRCm39) |
V754E |
probably damaging |
Het |
| Pramel25 |
A |
T |
4: 143,521,695 (GRCm39) |
D437V |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,041,384 (GRCm39) |
E81V |
probably damaging |
Het |
| Rbp4 |
C |
A |
19: 38,106,717 (GRCm39) |
|
probably null |
Het |
| Rdh12 |
T |
C |
12: 79,265,459 (GRCm39) |
V211A |
probably damaging |
Het |
| Ret |
G |
A |
6: 118,153,168 (GRCm39) |
A500V |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,103,118 (GRCm39) |
F469S |
possibly damaging |
Het |
| Rmc1 |
C |
A |
18: 12,322,278 (GRCm39) |
A577D |
possibly damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,479 (GRCm39) |
P478T |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,390,282 (GRCm39) |
Y1579F |
probably benign |
Het |
| Sh3bp5 |
A |
T |
14: 31,156,106 (GRCm39) |
|
probably benign |
Het |
| Slc22a13 |
G |
T |
9: 119,024,773 (GRCm39) |
L235I |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,948 (GRCm39) |
T172S |
possibly damaging |
Het |
| Slitrk1 |
G |
T |
14: 109,149,048 (GRCm39) |
S554R |
possibly damaging |
Het |
| Tg |
G |
A |
15: 66,554,243 (GRCm39) |
G553S |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,611,215 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,754,820 (GRCm39) |
L1222Q |
probably benign |
Het |
| Vdac2 |
T |
C |
14: 21,893,957 (GRCm39) |
V249A |
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,943 (GRCm39) |
V115A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,345 (GRCm39) |
V577A |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,232,593 (GRCm39) |
E371G |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,362,178 (GRCm39) |
H980Q |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation