Incidental Mutation 'R6794:Dcaf5'
| ID |
531676 |
| 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 |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80382622-80483375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80445667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 137
(D137E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054145]
|
| AlphaFold |
Q80T85 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054145
AA Change: D137E
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: D137E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
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 |
|
|
R5833:Dcaf5
|
UTSW |
12 |
80,395,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCAGACTGTTCAGCACAATCC -3'
(R):5'- TTTGGAAATCTAGTACCACCCTC -3'
Sequencing Primer
(F):5'- TGTTCAGCACAATCCAAAACTGTC -3'
(R):5'- CAGCTACTGGGTCATTTTTAAATACG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation