Incidental Mutation 'R9685:Dcaf1'
| ID |
728805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106713818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 145
(T145I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055009
AA Change: T145I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: T145I
| 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
AA Change: T145I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: T145I
| 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
AA Change: T145I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: T145I
| 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: 99.5%
- 20x: 98.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
G |
T |
16: 64,586,823 (GRCm39) |
N300K |
possibly damaging |
Het |
| A130010J15Rik |
G |
A |
1: 192,857,065 (GRCm39) |
R139H |
probably benign |
Het |
| Aanat |
A |
C |
11: 116,487,681 (GRCm39) |
T127P |
possibly damaging |
Het |
| Acp4 |
G |
A |
7: 43,906,733 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,250,527 (GRCm39) |
I426S |
probably benign |
Het |
| Bcl2a1a |
T |
C |
9: 88,839,185 (GRCm39) |
S28P |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,288,384 (GRCm39) |
S272P |
possibly damaging |
Het |
| Cdk13 |
C |
A |
13: 17,978,542 (GRCm39) |
R232L |
unknown |
Het |
| Clrn2 |
A |
G |
5: 45,611,331 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,749 (GRCm39) |
L406P |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,797,622 (GRCm39) |
V1362G |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,639 (GRCm39) |
S939L |
probably benign |
Het |
| Ddx28 |
T |
C |
8: 106,736,733 (GRCm39) |
S442G |
probably benign |
Het |
| Dnajc3 |
A |
T |
14: 119,209,775 (GRCm39) |
R283S |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,232,087 (GRCm39) |
T307I |
possibly damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,291 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fam25a |
G |
A |
14: 34,077,266 (GRCm39) |
T17I |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,216,879 (GRCm39) |
E2137G |
probably damaging |
Het |
| Gm10142 |
A |
G |
10: 77,551,762 (GRCm39) |
Q41R |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,564,775 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Hhip |
A |
T |
8: 80,723,363 (GRCm39) |
H430Q |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Impa1 |
T |
A |
3: 10,393,430 (GRCm39) |
I58L |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,451,812 (GRCm39) |
V135E |
probably benign |
Het |
| Jup |
A |
C |
11: 100,274,237 (GRCm39) |
L151R |
probably damaging |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,664 (GRCm39) |
R863S |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,866 (GRCm39) |
F31S |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,520 (GRCm39) |
M282L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,124,383 (GRCm39) |
D144G |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,390 (GRCm39) |
S214R |
probably benign |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtca |
T |
A |
3: 116,293,225 (GRCm39) |
R195S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,835 (GRCm39) |
S360R |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,371,194 (GRCm39) |
F293I |
possibly damaging |
Het |
| Snapc1 |
T |
C |
12: 74,017,115 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,032,925 (GRCm39) |
V994A |
probably damaging |
Het |
| Synpo2 |
T |
C |
3: 122,911,366 (GRCm39) |
E93G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,341 (GRCm39) |
T985A |
unknown |
Het |
| Vmn1r18 |
T |
C |
6: 57,367,463 (GRCm39) |
I30M |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,440,598 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,081 (GRCm39) |
V251A |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,659,311 (GRCm39) |
I200N |
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 |
|
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 |
|
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'- GAATCATCTCTAGTCCACCACTG -3'
(R):5'- CATTCAAGTAGTACGGATCCAACC -3'
Sequencing Primer
(F):5'- TCTCTAGTCCACCACTGAAATATC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation