Incidental Mutation 'R5833:Dcaf5'
| ID |
449418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf5
|
| Ensembl Gene |
ENSMUSG00000049106 |
| Gene Name |
DDB1 and CUL4 associated factor 5 |
| Synonyms |
BCRP2, Wdr22, 9430020B07Rik, BCRG2 |
| MMRRC Submission |
043221-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R5833 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80382622-80483375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80395203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 322
(V322A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054145]
|
| AlphaFold |
Q80T85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054145
AA Change: V322A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: V322A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
42 |
82 |
3.32e-5 |
SMART |
|
WD40
|
90 |
129 |
1.95e-2 |
SMART |
|
WD40
|
132 |
171 |
1.28e-6 |
SMART |
|
WD40
|
179 |
216 |
2.65e1 |
SMART |
|
low complexity region
|
248 |
255 |
N/A |
INTRINSIC |
|
WD40
|
264 |
308 |
1.66e0 |
SMART |
|
WD40
|
322 |
361 |
2.01e-4 |
SMART |
|
low complexity region
|
431 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
941 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 95.7%
- 20x: 84.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
T |
C |
5: 9,008,314 (GRCm39) |
Y1161H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,886,722 (GRCm39) |
M276L |
probably benign |
Het |
| Adi1 |
A |
G |
12: 28,731,041 (GRCm39) |
D166G |
probably benign |
Het |
| Arhgap44 |
T |
G |
11: 64,929,503 (GRCm39) |
E267A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,511 (GRCm39) |
L107Q |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,716 (GRCm39) |
D247G |
probably benign |
Het |
| C4b |
T |
C |
17: 34,949,647 (GRCm39) |
D1481G |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,245,326 (GRCm39) |
F242L |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,922 (GRCm39) |
K298E |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,832,265 (GRCm39) |
N175S |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,744,379 (GRCm39) |
M21K |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,729,838 (GRCm39) |
D55G |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,318 (GRCm39) |
M75T |
possibly damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,128 (GRCm39) |
S262P |
probably damaging |
Het |
| Gpnmb |
T |
C |
6: 49,020,952 (GRCm39) |
L82P |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Itpripl2 |
A |
C |
7: 118,089,194 (GRCm39) |
V455G |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,549,287 (GRCm39) |
V1087A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,172,647 (GRCm39) |
D1801G |
possibly damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,495,875 (GRCm39) |
Y570* |
probably null |
Het |
| Osbpl1a |
G |
T |
18: 12,921,419 (GRCm39) |
N128K |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,155 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,989 (GRCm39) |
F214Y |
probably damaging |
Het |
| Qki |
A |
T |
17: 10,435,316 (GRCm39) |
L236H |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,380,171 (GRCm39) |
D220E |
probably benign |
Het |
| Rras |
A |
G |
7: 44,670,715 (GRCm39) |
E195G |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,339,352 (GRCm39) |
M430K |
possibly damaging |
Het |
| Tardbp |
A |
C |
4: 148,702,117 (GRCm39) |
V86G |
probably damaging |
Het |
| Trim43c |
A |
G |
9: 88,725,090 (GRCm39) |
Q203R |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,913 (GRCm39) |
L229P |
probably damaging |
Het |
|
| Other mutations in Dcaf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Dcaf5
|
APN |
12 |
80,386,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00990:Dcaf5
|
APN |
12 |
80,385,606 (GRCm39) |
missense |
probably benign |
|
|
IGL01788:Dcaf5
|
APN |
12 |
80,395,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Dcaf5
|
APN |
12 |
80,386,088 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02365:Dcaf5
|
APN |
12 |
80,445,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1160:Dcaf5
|
UTSW |
12 |
80,386,989 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1443:Dcaf5
|
UTSW |
12 |
80,410,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Dcaf5
|
UTSW |
12 |
80,386,603 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1945:Dcaf5
|
UTSW |
12 |
80,385,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2043:Dcaf5
|
UTSW |
12 |
80,386,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2104:Dcaf5
|
UTSW |
12 |
80,385,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4831:Dcaf5
|
UTSW |
12 |
80,385,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Dcaf5
|
UTSW |
12 |
80,387,006 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4860:Dcaf5
|
UTSW |
12 |
80,387,006 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5257:Dcaf5
|
UTSW |
12 |
80,444,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Dcaf5
|
UTSW |
12 |
80,395,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Dcaf5
|
UTSW |
12 |
80,386,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Dcaf5
|
UTSW |
12 |
80,386,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5632:Dcaf5
|
UTSW |
12 |
80,444,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5779:Dcaf5
|
UTSW |
12 |
80,385,606 (GRCm39) |
missense |
probably benign |
|
|
R6794:Dcaf5
|
UTSW |
12 |
80,445,667 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7188:Dcaf5
|
UTSW |
12 |
80,446,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Dcaf5
|
UTSW |
12 |
80,385,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7286:Dcaf5
|
UTSW |
12 |
80,395,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Dcaf5
|
UTSW |
12 |
80,423,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8679:Dcaf5
|
UTSW |
12 |
80,385,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9248:Dcaf5
|
UTSW |
12 |
80,386,563 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCTGGCACTCATGGAGGAG -3'
(R):5'- TGGGCATTGCTTACAGGCTAG -3'
Sequencing Primer
(F):5'- CACTCATGGAGGAGTCTGATAATTG -3'
(R):5'- CATTGCTTACAGGCTAGATAAAGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation