Incidental Mutation 'IGL03211:Dcaf6'
| ID |
413298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcaf6
|
| Ensembl Gene |
ENSMUSG00000026571 |
| Gene Name |
DDB1 and CUL4 associated factor 6 |
| Synonyms |
NRIP, Iqwd1, 1200006M05Rik, PC326 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165250502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 121
(F121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
| AlphaFold |
Q9DC22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027856
AA Change: F121L
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: F121L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
40 |
79 |
5.77e-5 |
SMART |
|
WD40
|
82 |
124 |
1.2e-2 |
SMART |
|
WD40
|
130 |
170 |
2.15e-1 |
SMART |
|
WD40
|
184 |
220 |
3.33e-1 |
SMART |
|
WD40
|
238 |
281 |
6.66e-1 |
SMART |
|
low complexity region
|
364 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
676 |
N/A |
INTRINSIC |
|
IQ
|
691 |
713 |
1.25e1 |
SMART |
|
WD40
|
722 |
763 |
3.84e0 |
SMART |
|
WD40
|
766 |
805 |
1.22e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195686
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
| Other mutations in Dcaf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Dcaf6
|
APN |
1 |
165,165,916 (GRCm39) |
splice site |
probably benign |
|
|
IGL01377:Dcaf6
|
APN |
1 |
165,216,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02027:Dcaf6
|
APN |
1 |
165,251,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Dcaf6
|
APN |
1 |
165,250,490 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02754:Dcaf6
|
APN |
1 |
165,165,915 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02900:Dcaf6
|
APN |
1 |
165,227,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Dcaf6
|
APN |
1 |
165,167,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Dcaf6
|
UTSW |
1 |
165,247,792 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1494:Dcaf6
|
UTSW |
1 |
165,160,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Dcaf6
|
UTSW |
1 |
165,179,589 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1840:Dcaf6
|
UTSW |
1 |
165,227,317 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2191:Dcaf6
|
UTSW |
1 |
165,250,433 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2297:Dcaf6
|
UTSW |
1 |
165,227,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Dcaf6
|
UTSW |
1 |
165,250,421 (GRCm39) |
splice site |
probably benign |
|
|
R3861:Dcaf6
|
UTSW |
1 |
165,256,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Dcaf6
|
UTSW |
1 |
165,251,949 (GRCm39) |
nonsense |
probably null |
|
|
R4521:Dcaf6
|
UTSW |
1 |
165,218,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4531:Dcaf6
|
UTSW |
1 |
165,239,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Dcaf6
|
UTSW |
1 |
165,239,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4916:Dcaf6
|
UTSW |
1 |
165,247,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Dcaf6
|
UTSW |
1 |
165,216,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5080:Dcaf6
|
UTSW |
1 |
165,247,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Dcaf6
|
UTSW |
1 |
165,157,572 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5277:Dcaf6
|
UTSW |
1 |
165,251,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5512:Dcaf6
|
UTSW |
1 |
165,227,404 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5914:Dcaf6
|
UTSW |
1 |
165,178,724 (GRCm39) |
missense |
probably benign |
|
|
R6004:Dcaf6
|
UTSW |
1 |
165,216,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dcaf6
|
UTSW |
1 |
165,178,839 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6736:Dcaf6
|
UTSW |
1 |
165,227,354 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7051:Dcaf6
|
UTSW |
1 |
165,251,886 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7110:Dcaf6
|
UTSW |
1 |
165,179,537 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7583:Dcaf6
|
UTSW |
1 |
165,160,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Dcaf6
|
UTSW |
1 |
165,179,623 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Dcaf6
|
UTSW |
1 |
165,227,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Dcaf6
|
UTSW |
1 |
165,185,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Dcaf6
|
UTSW |
1 |
165,216,244 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9061:Dcaf6
|
UTSW |
1 |
165,164,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9307:Dcaf6
|
UTSW |
1 |
165,227,236 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9375:Dcaf6
|
UTSW |
1 |
165,185,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Dcaf6
|
UTSW |
1 |
165,227,264 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation