Incidental Mutation 'R8953:Dcaf1'
| ID |
681771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
068789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106735542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 830
(R830Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055009
AA Change: R830Q
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: R830Q
| 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: R830Q
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: R830Q
| 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: R830Q
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: R830Q
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,518,015 (GRCm39) |
V765L |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,630 (GRCm39) |
T915S |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,025,170 (GRCm39) |
H992Y |
possibly damaging |
Het |
| Castor1 |
A |
T |
11: 4,171,249 (GRCm39) |
I244F |
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,373 (GRCm39) |
M113K |
probably damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,272 (GRCm39) |
L321P |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,809 (GRCm39) |
Q105R |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,016,238 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
A |
G |
11: 101,662,513 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,826 (GRCm39) |
D246G |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,675 (GRCm39) |
S613P |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,163,525 (GRCm39) |
C261S |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,264,388 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
G |
8: 70,269,427 (GRCm39) |
L533R |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,647,006 (GRCm39) |
T147A |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,884 (GRCm39) |
R1870Q |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,490,839 (GRCm39) |
Y986H |
probably damaging |
Het |
| Kcnk3 |
A |
C |
5: 30,779,382 (GRCm39) |
K144T |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,313 (GRCm39) |
V1293A |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,818,539 (GRCm39) |
I498V |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,965,078 (GRCm39) |
L289P |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,383,792 (GRCm39) |
D43E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,620,716 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
C |
A |
13: 111,842,587 (GRCm39) |
T136K |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,238,890 (GRCm39) |
W242R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,632 (GRCm39) |
V932A |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,269 (GRCm39) |
M75L |
probably benign |
Het |
| Or5p55 |
G |
A |
7: 107,567,251 (GRCm39) |
V216I |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,371 (GRCm39) |
M99K |
probably benign |
Het |
| Or9a4 |
G |
T |
6: 40,548,676 (GRCm39) |
A119S |
possibly damaging |
Het |
| Otub2 |
A |
T |
12: 103,370,585 (GRCm39) |
D289V |
probably damaging |
Het |
| P2rx3 |
A |
G |
2: 84,853,842 (GRCm39) |
V133A |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,122,030 (GRCm39) |
T585K |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,320 (GRCm39) |
Y534N |
probably benign |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,991 (GRCm39) |
D232G |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,049,612 (GRCm39) |
S234L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,815 (GRCm39) |
K271E |
probably damaging |
Het |
| Plch1 |
T |
G |
3: 63,639,126 (GRCm39) |
H449P |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,418,507 (GRCm39) |
L92P |
possibly damaging |
Het |
| Pramel51 |
A |
G |
12: 88,144,070 (GRCm39) |
C248R |
probably benign |
Het |
| Ptgdr2 |
C |
T |
19: 10,917,786 (GRCm39) |
T101I |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,570,461 (GRCm39) |
H1286Q |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,867,546 (GRCm39) |
S3P |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,928 (GRCm39) |
V1598I |
probably benign |
Het |
| Rph3al |
G |
T |
11: 75,797,401 (GRCm39) |
C98* |
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,163,746 (GRCm39) |
T613A |
probably damaging |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Rusf1 |
T |
G |
7: 127,872,678 (GRCm39) |
Q423H |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,159 (GRCm39) |
I336V |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,438,254 (GRCm39) |
N174S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,241 (GRCm39) |
N1903S |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,487 (GRCm39) |
S1391P |
probably benign |
Het |
| Terb1 |
T |
A |
8: 105,195,431 (GRCm39) |
D570V |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,338,966 (GRCm39) |
I615F |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,088 (GRCm39) |
N556S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,228 (GRCm39) |
D19228V |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,840,044 (GRCm39) |
Y269F |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,080,420 (GRCm39) |
V517E |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,731,356 (GRCm39) |
S1120T |
probably benign |
Het |
| Zfr2 |
C |
A |
10: 81,084,271 (GRCm39) |
N650K |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,897,421 (GRCm39) |
T501I |
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 |
|
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 |
|
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 |
|
|
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'- TCTCGAAGTAGCACTGTTCGAC -3'
(R):5'- TCGACTTGCAATGCCGTTG -3'
Sequencing Primer
(F):5'- GTTCGACAGATCATCAGTAAACTTCC -3'
(R):5'- AGCAGCAGCAGTCACTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation