Incidental Mutation 'IGL01936:Dcaf1'
| ID |
180669 |
| 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 # |
IGL01936
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106736800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 1085
(F1085Y)
|
| 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: F1085Y
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: F1085Y
| 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: F1085Y
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: F1085Y
| 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: F1085Y
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: F1085Y
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
A |
5: 90,009,282 (GRCm39) |
H127L |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,244,579 (GRCm39) |
V419A |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,287 (GRCm39) |
L926F |
probably damaging |
Het |
| Asgr2 |
A |
T |
11: 69,988,877 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
A |
6: 122,828,194 (GRCm39) |
T8S |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,695,543 (GRCm39) |
I273V |
probably damaging |
Het |
| Ccnl2 |
T |
A |
4: 155,904,856 (GRCm39) |
C242S |
probably damaging |
Het |
| Cdkn2a |
A |
T |
4: 89,212,569 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
G |
1: 172,361,616 (GRCm39) |
M231R |
probably damaging |
Het |
| Clcn7 |
A |
C |
17: 25,374,350 (GRCm39) |
N464H |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,651,161 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,797,067 (GRCm39) |
|
probably benign |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,396,864 (GRCm39) |
V363A |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Drc7 |
T |
A |
8: 95,800,760 (GRCm39) |
F594Y |
possibly damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,768,277 (GRCm39) |
E1009* |
probably null |
Het |
| Epg5 |
C |
A |
18: 78,028,316 (GRCm39) |
R1286S |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,885,060 (GRCm39) |
|
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,964,956 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,496,747 (GRCm39) |
D610G |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,033,923 (GRCm39) |
M2525K |
probably benign |
Het |
| Gimap5 |
G |
T |
6: 48,729,999 (GRCm39) |
A190S |
probably damaging |
Het |
| Glcci1 |
T |
A |
6: 8,579,596 (GRCm39) |
S79T |
probably damaging |
Het |
| Gpnmb |
C |
T |
6: 49,024,384 (GRCm39) |
T233I |
probably null |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,558 (GRCm39) |
V183A |
probably damaging |
Het |
| Hyls1 |
T |
C |
9: 35,473,363 (GRCm39) |
I18V |
probably benign |
Het |
| Ighv1-63 |
C |
T |
12: 115,459,274 (GRCm39) |
E108K |
probably damaging |
Het |
| Ighv5-12 |
C |
A |
12: 113,665,927 (GRCm39) |
R57L |
probably damaging |
Het |
| Igkv5-37 |
T |
C |
6: 69,940,323 (GRCm39) |
Y107C |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,631,591 (GRCm39) |
V264D |
probably damaging |
Het |
| Jph1 |
A |
T |
1: 17,167,608 (GRCm39) |
V74E |
probably damaging |
Het |
| Kcnab1 |
C |
T |
3: 65,265,695 (GRCm39) |
L280F |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,826 (GRCm39) |
F144S |
probably damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,738,241 (GRCm39) |
E294K |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,704,355 (GRCm39) |
V813E |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,439 (GRCm39) |
F1937I |
probably damaging |
Het |
| Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,319 (GRCm39) |
N703S |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,688,032 (GRCm39) |
M227L |
possibly damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,520,940 (GRCm39) |
M268K |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,868,708 (GRCm39) |
G350C |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,082,599 (GRCm39) |
T1390S |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,469,526 (GRCm39) |
|
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,443,969 (GRCm39) |
D251V |
possibly damaging |
Het |
| Or1x2 |
A |
G |
11: 50,918,162 (GRCm39) |
N111S |
probably benign |
Het |
| Or4d10 |
C |
T |
19: 12,051,421 (GRCm39) |
V192I |
probably benign |
Het |
| Or5b107 |
C |
A |
19: 13,142,767 (GRCm39) |
P130T |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,470,621 (GRCm39) |
H87Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,529,256 (GRCm39) |
V368A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,168 (GRCm39) |
L154Q |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,103,644 (GRCm39) |
C140G |
probably damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,437,689 (GRCm39) |
T183I |
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,078,122 (GRCm39) |
E117G |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,368 (GRCm39) |
M299L |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,678,530 (GRCm39) |
H111R |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,452,821 (GRCm39) |
P2843H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,144,908 (GRCm39) |
T389A |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,910,531 (GRCm39) |
F1000Y |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,908,076 (GRCm39) |
S229N |
probably benign |
Het |
| Thsd1 |
G |
A |
8: 22,742,247 (GRCm39) |
C305Y |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,344,297 (GRCm39) |
D1387E |
probably benign |
Het |
| Tmem145 |
G |
T |
7: 25,010,816 (GRCm39) |
A383S |
probably damaging |
Het |
| Tmprss4 |
A |
G |
9: 45,090,718 (GRCm39) |
V187A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,524 (GRCm39) |
M1407L |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,153,609 (GRCm39) |
G655D |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,241 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,930,397 (GRCm39) |
S1535P |
probably 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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation