Incidental Mutation 'IGL02365:Dcaf5'
| ID |
290691 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcaf5
|
| Ensembl Gene |
ENSMUSG00000049106 |
| Gene Name |
DDB1 and CUL4 associated factor 5 |
| Synonyms |
BCRP2, Wdr22, 9430020B07Rik, BCRG2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
IGL02365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
80382622-80483375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80445547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 177
(H177Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054145]
|
| AlphaFold |
Q80T85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054145
AA Change: H177Q
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000052755
Gene: ENSMUSG00000049106
AA Change: H177Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218498
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
| Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,754,146 (GRCm39) |
N354K |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
| Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
| Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,260 (GRCm39) |
M333K |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,878 (GRCm39) |
V214A |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
| Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
| Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
| Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
| Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
| Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
| Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
| Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
| Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,402,048 (GRCm39) |
S500P |
probably damaging |
Het |
| Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
| Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
| Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
| Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
| Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,068,206 (GRCm39) |
D203V |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation