Incidental Mutation 'IGL03119:Dcaf6'
ID |
409917 |
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 # |
IGL03119
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 165167545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 708
(E708G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
AlphaFold |
Q9DC22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027856
AA Change: E708G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027856 Gene: ENSMUSG00000026571 AA Change: E708G
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: ENSMUST00000193353
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,764,887 (GRCm39) |
T626A |
probably benign |
Het |
Adcy1 |
C |
T |
11: 7,059,051 (GRCm39) |
T319I |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,530,492 (GRCm39) |
S5861P |
probably damaging |
Het |
Adgrv1 |
A |
C |
13: 81,581,819 (GRCm39) |
C4742G |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,079,057 (GRCm39) |
D93E |
probably damaging |
Het |
Atp6v1h |
A |
G |
1: 5,165,892 (GRCm39) |
T121A |
probably benign |
Het |
Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
Cep104 |
A |
C |
4: 154,066,181 (GRCm39) |
K126N |
probably damaging |
Het |
Dst |
A |
G |
1: 34,200,143 (GRCm39) |
Y107C |
probably damaging |
Het |
E2f3 |
A |
G |
13: 30,169,348 (GRCm39) |
S102P |
probably benign |
Het |
Eif3e |
A |
C |
15: 43,129,000 (GRCm39) |
S207A |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
Fyttd1 |
T |
C |
16: 32,721,065 (GRCm39) |
V121A |
probably benign |
Het |
Gstk1 |
T |
C |
6: 42,226,833 (GRCm39) |
S200P |
probably damaging |
Het |
Ifrd1 |
A |
T |
12: 40,262,333 (GRCm39) |
F244L |
probably null |
Het |
Ints7 |
T |
C |
1: 191,342,477 (GRCm39) |
V491A |
probably damaging |
Het |
Kcnd2 |
G |
T |
6: 21,216,508 (GRCm39) |
E71* |
probably null |
Het |
Ltbp3 |
A |
T |
19: 5,807,471 (GRCm39) |
Q1123L |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,573,041 (GRCm39) |
V720E |
probably null |
Het |
Or52ab4 |
A |
G |
7: 102,987,929 (GRCm39) |
I223V |
probably damaging |
Het |
Or5b121 |
T |
C |
19: 13,507,799 (GRCm39) |
I298T |
probably benign |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Peli1 |
T |
C |
11: 21,090,560 (GRCm39) |
|
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,458 (GRCm39) |
V209A |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,287,825 (GRCm39) |
Y31C |
probably damaging |
Het |
Smg1 |
G |
A |
7: 117,794,336 (GRCm39) |
|
probably benign |
Het |
Stat2 |
A |
G |
10: 128,119,386 (GRCm39) |
M457V |
probably benign |
Het |
Trpm6 |
G |
T |
19: 18,815,381 (GRCm39) |
E1156* |
probably null |
Het |
Usp53 |
T |
A |
3: 122,755,064 (GRCm39) |
R130S |
possibly damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,333,852 (GRCm39) |
S193P |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,884,792 (GRCm39) |
I626V |
probably damaging |
Het |
Zfp574 |
G |
A |
7: 24,779,898 (GRCm39) |
A307T |
probably benign |
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 |
IGL03211:Dcaf6
|
APN |
1 |
165,250,502 (GRCm39) |
missense |
possibly damaging |
0.55 |
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 |