Incidental Mutation 'R9428:Dcaf1'
| ID |
712743 |
| 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 # |
R9428 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106735528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 825
(D825E)
|
| 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: D825E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: D825E
| 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: D825E
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: D825E
| 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: D825E
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: D825E
| 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: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Agmo |
A |
G |
12: 37,455,330 (GRCm39) |
I281M |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,791,773 (GRCm39) |
P1005S |
possibly damaging |
Het |
| Akap12 |
T |
A |
10: 4,303,409 (GRCm39) |
V178D |
probably damaging |
Het |
| Arc |
A |
G |
15: 74,543,063 (GRCm39) |
S387P |
probably benign |
Het |
| Arhgap11a |
C |
T |
2: 113,667,279 (GRCm39) |
V423I |
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,899,168 (GRCm39) |
S670P |
probably damaging |
Het |
| C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
| C4bp |
A |
T |
1: 130,581,094 (GRCm39) |
F138L |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,295,834 (GRCm39) |
C393* |
probably null |
Het |
| Cblif |
A |
G |
19: 11,735,102 (GRCm39) |
T241A |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,815,549 (GRCm39) |
V1822E |
possibly damaging |
Het |
| Chgb |
C |
G |
2: 132,635,154 (GRCm39) |
S365R |
probably damaging |
Het |
| Cnih3 |
T |
C |
1: 181,180,857 (GRCm39) |
|
probably benign |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,668,208 (GRCm39) |
E488V |
unknown |
Het |
| Espnl |
A |
G |
1: 91,273,595 (GRCm39) |
Y985C |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,272,010 (GRCm39) |
V1048A |
probably damaging |
Het |
| Fxn |
A |
T |
19: 24,249,787 (GRCm39) |
L100Q |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,607,318 (GRCm39) |
D560V |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,490 (GRCm39) |
H429Q |
unknown |
Het |
| Gpr158 |
T |
C |
2: 21,787,972 (GRCm39) |
F538L |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,378,308 (GRCm39) |
M1278K |
possibly damaging |
Het |
| Ivd |
T |
A |
2: 118,708,369 (GRCm39) |
V361E |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,821 (GRCm39) |
L30P |
probably damaging |
Het |
| Lipo4 |
C |
T |
19: 33,495,074 (GRCm39) |
V35I |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,155,076 (GRCm39) |
D1200G |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,080,049 (GRCm39) |
R31* |
probably null |
Het |
| Mill2 |
A |
T |
7: 18,573,950 (GRCm39) |
R12* |
probably null |
Het |
| Mphosph8 |
A |
G |
14: 56,934,114 (GRCm39) |
|
probably null |
Het |
| Mtfr2 |
T |
A |
10: 20,233,039 (GRCm39) |
S203T |
possibly damaging |
Het |
| Muc5ac |
A |
C |
7: 141,362,559 (GRCm39) |
T1957P |
unknown |
Het |
| Mxi1 |
C |
A |
19: 53,299,213 (GRCm39) |
P28Q |
probably benign |
Het |
| Mycbpap |
T |
C |
11: 94,393,995 (GRCm39) |
D367G |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,605,176 (GRCm39) |
T966A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Ndst2 |
A |
T |
14: 20,775,470 (GRCm39) |
F673L |
possibly damaging |
Het |
| Ndst3 |
T |
A |
3: 123,340,518 (GRCm39) |
I767F |
probably benign |
Het |
| Nell1 |
A |
T |
7: 50,503,683 (GRCm39) |
D696V |
probably damaging |
Het |
| Nol9 |
A |
T |
4: 152,124,109 (GRCm39) |
T100S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,245 (GRCm39) |
S94P |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,858,121 (GRCm39) |
I31T |
probably damaging |
Het |
| Oas2 |
T |
A |
5: 120,887,576 (GRCm39) |
D88V |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,774 (GRCm39) |
I106V |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,022,991 (GRCm39) |
H189R |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,575,206 (GRCm39) |
S239P |
probably damaging |
Het |
| Pheta1 |
C |
T |
5: 121,991,147 (GRCm39) |
P170S |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,067,721 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
T |
C |
4: 152,192,780 (GRCm39) |
V582A |
probably benign |
Het |
| Plekhh2 |
G |
T |
17: 84,873,841 (GRCm39) |
E375D |
probably benign |
Het |
| Pramel55 |
G |
T |
5: 95,949,545 (GRCm39) |
R97S |
probably damaging |
Het |
| Prp2rt |
A |
G |
13: 97,235,724 (GRCm39) |
S8P |
probably benign |
Het |
| Psmd4 |
G |
A |
3: 94,940,767 (GRCm39) |
T332I |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,041,485 (GRCm39) |
T76S |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,358,315 (GRCm39) |
I168L |
|
Het |
| Ros1 |
T |
C |
10: 51,958,061 (GRCm39) |
T1872A |
probably benign |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,493 (GRCm39) |
K51* |
probably null |
Het |
| Scube2 |
A |
T |
7: 109,428,345 (GRCm39) |
D509E |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,393,067 (GRCm39) |
S123R |
probably damaging |
Het |
| Smc3 |
G |
C |
19: 53,617,150 (GRCm39) |
R521P |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,528,034 (GRCm39) |
R323H |
probably damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,067 (GRCm39) |
D2E |
probably benign |
Het |
| Sra1 |
A |
G |
18: 36,810,299 (GRCm39) |
V121A |
probably damaging |
Het |
| Stimate |
T |
C |
14: 30,594,645 (GRCm39) |
S253P |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,601,548 (GRCm39) |
L143P |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,811,490 (GRCm39) |
F568Y |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,671,140 (GRCm39) |
E614G |
probably damaging |
Het |
| Tuba4a |
G |
T |
1: 75,192,686 (GRCm39) |
H337Q |
|
Het |
| Tubgcp6 |
G |
A |
15: 88,985,100 (GRCm39) |
H1663Y |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,175,316 (GRCm39) |
Y1138C |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,535 (GRCm39) |
N6K |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,195,944 (GRCm39) |
A176T |
|
Het |
| Vmn1r215 |
A |
T |
13: 23,260,749 (GRCm39) |
H263L |
probably benign |
Het |
| Vmn2r51 |
CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC |
CGGC |
7: 9,833,712 (GRCm39) |
|
probably benign |
Het |
| Wdhd1 |
A |
C |
14: 47,489,427 (GRCm39) |
L702* |
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
probably benign |
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 |
|
|
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'- TTACAGACGCAGACCAGATC -3'
(R):5'- AATGTGAGGCAGCAGTCATG -3'
Sequencing Primer
(F):5'- GTCTCGAAGTAGCACTGTTCGAC -3'
(R):5'- AGCAGTCATGGGCAGGTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation