Incidental Mutation 'R6829:Dcaf1'
| ID |
534302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
044939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106715803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 307
(S307T)
|
| 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: S307T
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: S307T
| 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: S307T
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: S307T
| 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: S307T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: S307T
| 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 |
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,265,446 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
A |
T |
16: 85,666,959 (GRCm39) |
M511K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,125,018 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,463 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,464,025 (GRCm39) |
*295Q |
probably null |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,880,190 (GRCm39) |
E111G |
probably benign |
Het |
| Fbxw4 |
A |
G |
19: 45,624,813 (GRCm39) |
F57S |
possibly damaging |
Het |
| Gm17655 |
T |
G |
5: 110,194,792 (GRCm39) |
H330P |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,994,576 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,787,413 (GRCm39) |
D600E |
possibly damaging |
Het |
| Gsg1l2 |
T |
C |
11: 67,665,684 (GRCm39) |
I84T |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,323,241 (GRCm39) |
R652G |
probably benign |
Het |
| Il17rd |
C |
T |
14: 26,809,379 (GRCm39) |
R112* |
probably null |
Het |
| Jph1 |
C |
A |
1: 17,074,647 (GRCm39) |
R457L |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,964,810 (GRCm39) |
V249A |
possibly damaging |
Het |
| Mocs2 |
A |
G |
13: 114,955,980 (GRCm39) |
S43G |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,172,643 (GRCm39) |
L1190* |
probably null |
Het |
| Or2w1 |
T |
A |
13: 21,317,023 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or4f62 |
G |
C |
2: 111,986,139 (GRCm39) |
|
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,021,898 (GRCm39) |
V297A |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,613 (GRCm39) |
L285* |
probably null |
Het |
| Pgc |
A |
T |
17: 48,043,706 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
G |
3: 63,604,939 (GRCm39) |
D1655A |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,748,305 (GRCm39) |
G29R |
probably benign |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,488 (GRCm39) |
I969T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,868,181 (GRCm39) |
E538G |
probably benign |
Het |
| Slc2a2 |
C |
T |
3: 28,781,590 (GRCm39) |
Q513* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,698,419 (GRCm39) |
Y636C |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,164,438 (GRCm39) |
D248G |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,623,166 (GRCm39) |
|
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,536 (GRCm39) |
L38P |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,396,380 (GRCm39) |
S397P |
probably damaging |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,414,540 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,676,915 (GRCm39) |
T2655M |
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 |
|
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'- GACCAGTAGTAGAGTGAACTCAGC -3'
(R):5'- GACCTTTCTGGAGTAGAGTTAGGAC -3'
Sequencing Primer
(F):5'- TAGAGTGAACTCAGCAACTAAACCTG -3'
(R):5'- AGGTATAGTCATAAAATGCCCCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation