Incidental Mutation 'IGL02027:Dcaf6'
ID |
184215 |
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 # |
IGL02027
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 165251910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 71
(D71E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
AlphaFold |
Q9DC22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027856
AA Change: D71E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027856 Gene: ENSMUSG00000026571 AA Change: D71E
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
Begain |
T |
G |
12: 109,000,235 (GRCm39) |
K384Q |
possibly damaging |
Het |
C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
Ccn2 |
A |
G |
10: 24,472,307 (GRCm39) |
S117G |
probably damaging |
Het |
Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
Cerkl |
T |
C |
2: 79,171,630 (GRCm39) |
|
probably benign |
Het |
Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
Mtus1 |
T |
C |
8: 41,446,638 (GRCm39) |
E1151G |
probably damaging |
Het |
Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
Repin1 |
A |
G |
6: 48,573,407 (GRCm39) |
H56R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
Zfp473 |
A |
T |
7: 44,387,462 (GRCm39) |
|
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 |
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 |
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 |
2014-05-07 |