Incidental Mutation 'R9018:Dcaf1'
ID |
686144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf1
|
Ensembl Gene |
ENSMUSG00000040325 |
Gene Name |
DDB1 and CUL4 associated factor 1 |
Synonyms |
B930007L02Rik, Vprbp |
MMRRC Submission |
068848-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9018 (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 106742836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1383
(C1383S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
AlphaFold |
Q80TR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055009
AA Change: C1383S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060025 Gene: ENSMUSG00000040325 AA Change: C1383S
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 damaging
Transcript: ENSMUST00000159645
AA Change: C1383S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123865 Gene: ENSMUSG00000040325 AA Change: C1383S
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: ENSMUST00000161272
|
SMART Domains |
Protein: ENSMUSP00000125424 Gene: ENSMUSG00000032575
Domain | Start | End | E-Value | Type |
Pfam:Armet
|
1 |
51 |
2.5e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161758
AA Change: C1389S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125730 Gene: ENSMUSG00000040325 AA Change: C1389S
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 |
0.1316 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (77/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,918,532 (GRCm39) |
E1552G |
probably damaging |
Het |
Abca14 |
A |
T |
7: 119,888,763 (GRCm39) |
K1236N |
probably benign |
Het |
Adam3 |
A |
T |
8: 25,184,292 (GRCm39) |
Y569* |
probably null |
Het |
Adgrb2 |
A |
G |
4: 129,907,659 (GRCm39) |
T998A |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,098,993 (GRCm39) |
H166Q |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
Ankrd11 |
A |
G |
8: 123,622,251 (GRCm39) |
S534P |
probably damaging |
Het |
Atn1 |
C |
T |
6: 124,722,661 (GRCm39) |
E805K |
unknown |
Het |
Bsn |
T |
C |
9: 107,994,488 (GRCm39) |
T596A |
probably benign |
Het |
Cacnb4 |
C |
T |
2: 52,324,706 (GRCm39) |
R452Q |
probably benign |
Het |
Cdc123 |
C |
A |
2: 5,849,683 (GRCm39) |
A13S |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,847,083 (GRCm39) |
G1609S |
possibly damaging |
Het |
Cp |
T |
A |
3: 20,043,316 (GRCm39) |
C1035S |
probably damaging |
Het |
Derl3 |
G |
A |
10: 75,729,604 (GRCm39) |
V54I |
probably benign |
Het |
Dgcr6 |
T |
C |
16: 17,884,607 (GRCm39) |
L25P |
probably damaging |
Het |
Dmrt2 |
A |
G |
19: 25,650,985 (GRCm39) |
E57G |
probably benign |
Het |
Dnaaf11 |
A |
T |
15: 66,321,479 (GRCm39) |
S221T |
probably benign |
Het |
Dst |
A |
G |
1: 34,235,140 (GRCm39) |
K3562E |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,014 (GRCm39) |
T415A |
probably damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fbln1 |
T |
C |
15: 85,126,215 (GRCm39) |
I484T |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,542,004 (GRCm39) |
D1250E |
possibly damaging |
Het |
Ift88 |
A |
C |
14: 57,675,702 (GRCm39) |
K72Q |
probably benign |
Het |
Impg1 |
T |
A |
9: 80,301,474 (GRCm39) |
I228F |
probably benign |
Het |
Itsn2 |
A |
G |
12: 4,708,091 (GRCm39) |
N799S |
possibly damaging |
Het |
Jade1 |
T |
A |
3: 41,564,292 (GRCm39) |
C521S |
probably benign |
Het |
Katna1 |
T |
G |
10: 7,637,040 (GRCm39) |
L397R |
probably damaging |
Het |
Kcnj15 |
A |
C |
16: 95,097,129 (GRCm39) |
K250N |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,409,941 (GRCm39) |
I236M |
possibly damaging |
Het |
Mapk13 |
C |
T |
17: 28,996,760 (GRCm39) |
R276C |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mindy4 |
C |
T |
6: 55,278,072 (GRCm39) |
H639Y |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,436,713 (GRCm39) |
S544P |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,582,910 (GRCm39) |
Y492H |
|
Het |
Mybbp1a |
C |
T |
11: 72,334,420 (GRCm39) |
T225I |
probably benign |
Het |
Myo6 |
A |
T |
9: 80,159,086 (GRCm39) |
K285I |
unknown |
Het |
Nmd3 |
G |
A |
3: 69,647,328 (GRCm39) |
V277I |
probably benign |
Het |
Nol9 |
G |
C |
4: 152,123,918 (GRCm39) |
R36P |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,639,712 (GRCm39) |
R13G |
possibly damaging |
Het |
Nudt14 |
G |
A |
12: 112,902,906 (GRCm39) |
H40Y |
probably damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or5b118 |
A |
T |
19: 13,448,721 (GRCm39) |
H87L |
possibly damaging |
Het |
Or8d1b |
T |
A |
9: 38,887,687 (GRCm39) |
F238L |
probably benign |
Het |
Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Pgghg |
A |
G |
7: 140,524,579 (GRCm39) |
I309V |
probably benign |
Het |
Phf12 |
C |
T |
11: 77,914,510 (GRCm39) |
P651S |
possibly damaging |
Het |
Pltp |
A |
G |
2: 164,694,410 (GRCm39) |
L199P |
probably damaging |
Het |
Pole |
T |
A |
5: 110,437,675 (GRCm39) |
L78I |
probably benign |
Het |
Ppm1d |
C |
A |
11: 85,227,961 (GRCm39) |
H292Q |
probably damaging |
Het |
Ppp2cb |
A |
C |
8: 34,105,787 (GRCm39) |
I224L |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,957,880 (GRCm39) |
I171N |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
Rb1cc1 |
G |
A |
1: 6,319,490 (GRCm39) |
E970K |
probably benign |
Het |
Rnh1 |
A |
T |
7: 140,748,544 (GRCm39) |
V11D |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,315,520 (GRCm39) |
T288I |
probably benign |
Het |
Scmh1 |
A |
G |
4: 120,362,514 (GRCm39) |
D250G |
probably benign |
Het |
Sele |
T |
A |
1: 163,881,248 (GRCm39) |
C483S |
probably damaging |
Het |
Slc12a6 |
A |
G |
2: 112,174,585 (GRCm39) |
|
probably benign |
Het |
Slc5a4a |
A |
G |
10: 76,002,546 (GRCm39) |
E234G |
possibly damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,355 (GRCm39) |
L954P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,906,494 (GRCm39) |
N413K |
probably damaging |
Het |
Stam2 |
C |
T |
2: 52,606,463 (GRCm39) |
V141I |
probably benign |
Het |
Stim1 |
C |
T |
7: 102,060,482 (GRCm39) |
T175I |
probably benign |
Het |
Strap |
A |
G |
6: 137,716,811 (GRCm39) |
N130S |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,692,627 (GRCm39) |
|
probably benign |
Het |
Sult3a2 |
T |
A |
10: 33,655,689 (GRCm39) |
I97F |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,948,693 (GRCm39) |
N965K |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,319,750 (GRCm39) |
I506N |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tvp23a |
A |
G |
16: 10,264,846 (GRCm39) |
S22P |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,232,539 (GRCm39) |
N846S |
probably damaging |
Het |
Vmn2r83 |
A |
G |
10: 79,316,020 (GRCm39) |
N472S |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,944,864 (GRCm39) |
Q10* |
probably null |
Het |
Zfp423 |
G |
C |
8: 88,508,381 (GRCm39) |
S654R |
probably benign |
Het |
Zfp646 |
A |
T |
7: 127,478,243 (GRCm39) |
H140L |
probably benign |
Het |
Zfp719 |
C |
A |
7: 43,233,489 (GRCm39) |
|
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 |
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'- GGCATAACATTTTGAGTCAGCC -3'
(R):5'- TGACAGAGTAGCTTCCCTATCTCC -3'
Sequencing Primer
(F):5'- CATTTTGAGTCAGCCAAGTAATTTTG -3'
(R):5'- GTTTCAGACATATTAACAGGTCTTCC -3'
|
Posted On |
2021-10-11 |