Incidental Mutation 'R8807:Dcaf1'
| ID |
672150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
068643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8807 (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 G
at 106742268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1358
(T1358A)
|
| 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: T1358A
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: T1358A
| 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: T1358A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: T1358A
| 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 benign
Transcript: ENSMUST00000161758
AA Change: T1364A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: T1364A
| 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 |
99% (74/75) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
T |
C |
5: 48,534,494 (GRCm39) |
I118T |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,974,252 (GRCm39) |
F227L |
probably benign |
Het |
| Abcc6 |
A |
T |
7: 45,648,431 (GRCm39) |
I687N |
possibly damaging |
Het |
| Akain1 |
T |
C |
17: 69,794,340 (GRCm39) |
*70Q |
probably null |
Het |
| Allc |
C |
T |
12: 28,615,489 (GRCm39) |
G89S |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,188 (GRCm39) |
F399L |
probably benign |
Het |
| Artn |
A |
T |
4: 117,783,915 (GRCm39) |
S184T |
possibly damaging |
Het |
| B3galt9 |
A |
T |
2: 34,728,818 (GRCm39) |
I206F |
probably damaging |
Het |
| Bcl2a1c |
A |
T |
9: 114,159,248 (GRCm39) |
I9F |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,472,452 (GRCm39) |
D286E |
probably damaging |
Het |
| Cdc25a |
G |
A |
9: 109,708,303 (GRCm39) |
E98K |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,846,507 (GRCm39) |
I644F |
probably damaging |
Het |
| Cdr2l |
A |
T |
11: 115,284,741 (GRCm39) |
Q359L |
probably damaging |
Het |
| Cmip |
C |
T |
8: 118,138,094 (GRCm39) |
T103M |
probably benign |
Het |
| Dedd2 |
C |
T |
7: 24,910,705 (GRCm39) |
R157Q |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,982,499 (GRCm39) |
V9A |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,558,973 (GRCm39) |
V573E |
probably benign |
Het |
| Eef2k |
A |
T |
7: 120,490,930 (GRCm39) |
I517F |
possibly damaging |
Het |
| En1 |
T |
C |
1: 120,531,090 (GRCm39) |
F110S |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,111,853 (GRCm39) |
I1946F |
probably damaging |
Het |
| Gaa |
A |
T |
11: 119,168,393 (GRCm39) |
M502L |
probably benign |
Het |
| Gfer |
C |
T |
17: 24,914,846 (GRCm39) |
A66T |
possibly damaging |
Het |
| Gm13271 |
A |
G |
4: 88,673,213 (GRCm39) |
T37A |
probably benign |
Het |
| Grm3 |
C |
T |
5: 9,561,499 (GRCm39) |
A784T |
probably damaging |
Het |
| H3c8 |
A |
G |
13: 23,719,628 (GRCm39) |
K5E |
probably benign |
Het |
| Helz |
C |
G |
11: 107,493,835 (GRCm39) |
S277C |
probably damaging |
Het |
| Henmt1 |
T |
G |
3: 108,867,652 (GRCm39) |
*396G |
probably null |
Het |
| Hfe |
C |
T |
13: 23,889,667 (GRCm39) |
V327I |
probably benign |
Het |
| Hoxd8 |
A |
T |
2: 74,536,313 (GRCm39) |
Q141L |
probably damaging |
Het |
| Hspa12b |
T |
G |
2: 130,987,103 (GRCm39) |
S675A |
probably benign |
Het |
| Ifi214 |
G |
A |
1: 173,354,133 (GRCm39) |
T179I |
possibly damaging |
Het |
| Ighv5-9 |
T |
A |
12: 113,625,404 (GRCm39) |
Y113F |
possibly damaging |
Het |
| Lca5l |
T |
A |
16: 95,979,808 (GRCm39) |
R112S |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,770,843 (GRCm39) |
P257S |
probably benign |
Het |
| Loxhd1 |
C |
T |
18: 77,444,468 (GRCm39) |
T608I |
possibly damaging |
Het |
| Lpl |
C |
A |
8: 69,345,280 (GRCm39) |
L95I |
probably damaging |
Het |
| Lrp2bp |
A |
T |
8: 46,473,732 (GRCm39) |
Q196L |
probably damaging |
Het |
| Ly6h |
A |
G |
15: 75,438,056 (GRCm39) |
Y19H |
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,697,706 (GRCm39) |
|
probably benign |
Het |
| Mpo |
T |
C |
11: 87,687,165 (GRCm39) |
I237T |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,878 (GRCm39) |
W6R |
unknown |
Het |
| Muc16 |
T |
A |
9: 18,567,353 (GRCm39) |
H1722L |
unknown |
Het |
| Mug1 |
A |
C |
6: 121,851,434 (GRCm39) |
D777A |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,111,354 (GRCm39) |
I1598F |
probably benign |
Het |
| Myo1f |
C |
T |
17: 33,794,879 (GRCm39) |
R40C |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,207,949 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
G |
T |
9: 110,458,707 (GRCm39) |
N2071K |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,211,282 (GRCm39) |
C269S |
probably damaging |
Het |
| Nhlrc1 |
A |
T |
13: 47,167,990 (GRCm39) |
L89Q |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,160,904 (GRCm39) |
F103S |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,970,470 (GRCm39) |
V2379F |
probably damaging |
Het |
| Or5m8 |
A |
T |
2: 85,823,172 (GRCm39) |
*337L |
probably null |
Het |
| Or5p62 |
A |
T |
7: 107,771,852 (GRCm39) |
I33N |
possibly damaging |
Het |
| Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
G |
4: 59,517,584 (GRCm39) |
V101A |
probably benign |
Het |
| Rps6kb2 |
C |
T |
19: 4,213,229 (GRCm39) |
D6N |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,484,828 (GRCm39) |
H154L |
probably damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,382 (GRCm39) |
V1191M |
probably damaging |
Het |
| Selenos |
T |
A |
7: 65,729,467 (GRCm39) |
D2E |
probably benign |
Het |
| Sema5a |
G |
A |
15: 32,562,868 (GRCm39) |
G293D |
possibly damaging |
Het |
| Sgcg |
A |
G |
14: 61,469,930 (GRCm39) |
S144P |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 85,992,659 (GRCm39) |
V229A |
probably benign |
Het |
| Sin3b |
C |
T |
8: 73,476,708 (GRCm39) |
A714V |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,988,123 (GRCm39) |
Q528L |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,535,932 (GRCm39) |
L4063H |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,535,943 (GRCm39) |
K4067Q |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,195,741 (GRCm39) |
|
probably null |
Het |
| Tex2 |
T |
A |
11: 106,435,194 (GRCm39) |
H744L |
unknown |
Het |
| Tex2 |
T |
C |
11: 106,458,414 (GRCm39) |
S339G |
unknown |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trhr |
A |
T |
15: 44,061,212 (GRCm39) |
N244I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,582,409 (GRCm39) |
A22828V |
probably damaging |
Het |
| Uchl1 |
C |
T |
5: 66,833,601 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,328,110 (GRCm39) |
I529F |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,766,122 (GRCm39) |
V80F |
probably damaging |
Het |
| Wnt1 |
T |
A |
15: 98,690,645 (GRCm39) |
C325S |
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 |
|
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 |
|
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'- TCCTTTCGAACATTCAACGC -3'
(R):5'- TCCCAACCCCTATCAATTGAGTAAG -3'
Sequencing Primer
(F):5'- AGGCATCAGATCTCCTGGAATTG -3'
(R):5'- ATGCCAAAAGTCACCTTAA -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation