Incidental Mutation 'R7175:Dcaf1'
ID |
558555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf1
|
Ensembl Gene |
ENSMUSG00000040325 |
Gene Name |
DDB1 and CUL4 associated factor 1 |
Synonyms |
B930007L02Rik, Vprbp |
MMRRC Submission |
045231-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7175 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106699073-106758191 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106735775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 908
(I908F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
AlphaFold |
Q80TR8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055009
AA Change: I908F
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000060025 Gene: ENSMUSG00000040325 AA Change: I908F
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: I908F
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123865 Gene: ENSMUSG00000040325 AA Change: I908F
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: I908F
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125730 Gene: ENSMUSG00000040325 AA Change: I908F
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,831,611 (GRCm39) |
T1247I |
probably benign |
Het |
Afdn |
T |
C |
17: 14,108,869 (GRCm39) |
L1479P |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,210,534 (GRCm39) |
R363G |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,740,590 (GRCm39) |
S1765T |
unknown |
Het |
Anks6 |
T |
C |
4: 47,046,268 (GRCm39) |
|
probably null |
Het |
Apob |
A |
C |
12: 8,057,034 (GRCm39) |
I1839L |
probably benign |
Het |
Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
Ccs |
T |
A |
19: 4,883,390 (GRCm39) |
D136V |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,220,578 (GRCm39) |
|
probably null |
Het |
Cirbp |
T |
C |
10: 80,006,297 (GRCm39) |
S130P |
probably benign |
Het |
Cpb1 |
A |
G |
3: 20,317,927 (GRCm39) |
I199T |
probably benign |
Het |
Csn3 |
C |
T |
5: 88,077,586 (GRCm39) |
R31C |
probably damaging |
Het |
Dhcr7 |
C |
T |
7: 143,399,227 (GRCm39) |
T199I |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 66,024,463 (GRCm39) |
Q277L |
probably benign |
Het |
Echdc2 |
C |
A |
4: 108,031,366 (GRCm39) |
P237T |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,838,237 (GRCm39) |
V3625A |
unknown |
Het |
Eif4g3 |
A |
G |
4: 137,853,526 (GRCm39) |
N364S |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,734,231 (GRCm39) |
I1170L |
probably benign |
Het |
Epha3 |
C |
T |
16: 63,403,863 (GRCm39) |
R746Q |
probably damaging |
Het |
Exosc5 |
G |
A |
7: 25,363,794 (GRCm39) |
C102Y |
probably damaging |
Het |
Fam91a1 |
A |
T |
15: 58,302,527 (GRCm39) |
Y289F |
probably benign |
Het |
Fbxo38 |
A |
C |
18: 62,648,544 (GRCm39) |
F665V |
probably benign |
Het |
Fcrl5 |
T |
C |
3: 87,353,645 (GRCm39) |
V330A |
probably benign |
Het |
Fer |
T |
A |
17: 64,231,090 (GRCm39) |
D280E |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,113 (GRCm39) |
H16R |
probably benign |
Het |
Gzmg |
C |
T |
14: 56,396,979 (GRCm39) |
M1I |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,411,692 (GRCm39) |
A456V |
possibly damaging |
Het |
Hk2 |
T |
A |
6: 82,711,830 (GRCm39) |
Q613L |
probably benign |
Het |
Inhca |
A |
G |
9: 103,128,988 (GRCm39) |
|
probably null |
Het |
Itsn1 |
T |
C |
16: 91,664,938 (GRCm39) |
F1121L |
unknown |
Het |
Lztr1 |
G |
T |
16: 17,340,895 (GRCm39) |
C557F |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,694,634 (GRCm39) |
Y1119C |
probably damaging |
Het |
Nfkb1 |
A |
T |
3: 135,319,751 (GRCm39) |
L248Q |
probably damaging |
Het |
Or1a1 |
T |
A |
11: 74,087,004 (GRCm39) |
L225* |
probably null |
Het |
Or1p1b |
T |
C |
11: 74,130,803 (GRCm39) |
F138L |
probably benign |
Het |
Or2g7 |
T |
A |
17: 38,378,370 (GRCm39) |
S103T |
probably damaging |
Het |
Or52e19 |
T |
C |
7: 102,959,054 (GRCm39) |
V42A |
probably benign |
Het |
Otulinl |
A |
C |
15: 27,658,374 (GRCm39) |
D165E |
probably damaging |
Het |
Pate1 |
T |
G |
9: 35,596,408 (GRCm39) |
D119A |
probably damaging |
Het |
Pcdhgc4 |
T |
C |
18: 37,949,424 (GRCm39) |
V280A |
possibly damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,275,929 (GRCm39) |
D717G |
probably damaging |
Het |
Prdm13 |
A |
T |
4: 21,679,473 (GRCm39) |
L339Q |
unknown |
Het |
Rasgrf1 |
T |
A |
9: 89,862,802 (GRCm39) |
N519K |
probably benign |
Het |
Rergl |
A |
G |
6: 139,473,533 (GRCm39) |
V39A |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,848,402 (GRCm39) |
M1K |
probably null |
Het |
Slc20a1 |
T |
G |
2: 129,052,662 (GRCm39) |
L648R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,122,583 (GRCm39) |
S3476C |
probably damaging |
Het |
Speg |
A |
G |
1: 75,399,134 (GRCm39) |
T2194A |
probably benign |
Het |
Spns1 |
T |
C |
7: 125,972,961 (GRCm39) |
D215G |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,429,071 (GRCm39) |
V717E |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,382,151 (GRCm39) |
M1K |
probably null |
Het |
Trpa1 |
A |
G |
1: 14,963,431 (GRCm39) |
V597A |
possibly damaging |
Het |
Usp13 |
C |
T |
3: 32,971,757 (GRCm39) |
Q746* |
probably null |
Het |
Vmn1r35 |
A |
T |
6: 66,655,906 (GRCm39) |
W255R |
probably benign |
Het |
Vps35 |
A |
T |
8: 85,990,189 (GRCm39) |
|
probably null |
Het |
Vps54 |
T |
C |
11: 21,265,028 (GRCm39) |
|
probably null |
Het |
Zfp318 |
T |
A |
17: 46,697,774 (GRCm39) |
L210Q |
probably damaging |
Het |
Zfp319 |
C |
A |
8: 96,055,410 (GRCm39) |
K264N |
probably damaging |
Het |
Zfp62 |
C |
T |
11: 49,107,580 (GRCm39) |
S557L |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,357,239 (GRCm39) |
S822P |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,346,645 (GRCm39) |
D2G |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,742,727 (GRCm39) |
I769T |
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 |
|
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'- TTGCTCAGTCGAGGATCTCC -3'
(R):5'- TTTCCTGCCATTGCACGGTG -3'
Sequencing Primer
(F):5'- GATCTCCTTCCCTGAGAAAGAGCTG -3'
(R):5'- GGTGATGGCCTCTCTCTGATAAAAC -3'
|
Posted On |
2019-06-26 |