Incidental Mutation 'R6812:Dcaf1'
| ID |
533853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf1
|
| Ensembl Gene |
ENSMUSG00000040325 |
| Gene Name |
DDB1 and CUL4 associated factor 1 |
| Synonyms |
B930007L02Rik, Vprbp |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6812 (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 C
at 106735268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 739
(S739P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q80TR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055009
AA Change: S739P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: S739P
| 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: S739P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: S739P
| 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 damaging
Transcript: ENSMUST00000161758
AA Change: S739P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: S739P
| 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 |
0.2955 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
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 |
|
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 |
|
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'- AGGGTGAGTTCTTTATCCATGATGC -3'
(R):5'- CACTACGCTTATCCTGCAGC -3'
Sequencing Primer
(F):5'- GTTCTTTATCCATGATGCTGAAATTC -3'
(R):5'- GCACAGGCTCTTTCATCAGCTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation