Incidental Mutation 'IGL00787:Dcaf13'
| ID |
12569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcaf13
|
| Ensembl Gene |
ENSMUSG00000022300 |
| Gene Name |
DDB1 and CUL4 associated factor 13 |
| Synonyms |
Wdsof1, LOC223499 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
IGL00787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38976300-39010251 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 39007027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 320
(Y320*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022909]
|
| AlphaFold |
Q6PAC3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022909
AA Change: Y320*
|
| SMART Domains |
Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: Y320*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
95 |
5.77e-5 |
SMART |
|
WD40
|
98 |
137 |
4.38e-5 |
SMART |
|
WD40
|
185 |
225 |
5.97e-1 |
SMART |
|
Blast:WD40
|
228 |
267 |
1e-18 |
BLAST |
|
WD40
|
271 |
310 |
2.69e-5 |
SMART |
|
WD40
|
312 |
353 |
2.96e-2 |
SMART |
|
Pfam:Sof1
|
354 |
440 |
7.2e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227219
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7) |
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
T |
A |
3: 98,069,486 (GRCm39) |
S440T |
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,841,401 (GRCm39) |
N827K |
probably damaging |
Het |
| Ces1c |
A |
T |
8: 93,846,994 (GRCm39) |
S87T |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,501,907 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
T |
A |
5: 73,578,832 (GRCm39) |
F280I |
possibly damaging |
Het |
| Dgkh |
A |
C |
14: 78,855,954 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,022,020 (GRCm39) |
V1161E |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,803,349 (GRCm39) |
R399G |
probably benign |
Het |
| Gpr75 |
T |
A |
11: 30,842,290 (GRCm39) |
F398L |
probably benign |
Het |
| Kif24 |
G |
A |
4: 41,397,583 (GRCm39) |
T525I |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,226,973 (GRCm39) |
|
probably benign |
Het |
| Klc2 |
T |
G |
19: 5,161,690 (GRCm39) |
E300A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,122,198 (GRCm39) |
V171I |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,110,509 (GRCm39) |
S45L |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,512,854 (GRCm39) |
T579A |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
|
| Other mutations in Dcaf13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Dcaf13
|
APN |
15 |
38,982,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01766:Dcaf13
|
APN |
15 |
38,982,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Dcaf13
|
APN |
15 |
39,001,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Dcaf13
|
APN |
15 |
38,982,102 (GRCm39) |
splice site |
probably benign |
|
|
IGL02740:Dcaf13
|
APN |
15 |
39,008,495 (GRCm39) |
nonsense |
probably null |
|
|
IGL03092:Dcaf13
|
APN |
15 |
38,991,371 (GRCm39) |
splice site |
probably benign |
|
|
IGL03374:Dcaf13
|
APN |
15 |
39,008,543 (GRCm39) |
nonsense |
probably null |
|
|
R0590:Dcaf13
|
UTSW |
15 |
39,008,480 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Dcaf13
|
UTSW |
15 |
38,986,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0711:Dcaf13
|
UTSW |
15 |
39,001,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Dcaf13
|
UTSW |
15 |
39,007,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Dcaf13
|
UTSW |
15 |
38,993,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Dcaf13
|
UTSW |
15 |
38,982,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Dcaf13
|
UTSW |
15 |
39,001,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Dcaf13
|
UTSW |
15 |
39,008,547 (GRCm39) |
missense |
probably benign |
|
|
R4113:Dcaf13
|
UTSW |
15 |
38,993,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4595:Dcaf13
|
UTSW |
15 |
38,982,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Dcaf13
|
UTSW |
15 |
39,001,637 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5431:Dcaf13
|
UTSW |
15 |
38,986,619 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5454:Dcaf13
|
UTSW |
15 |
38,987,759 (GRCm39) |
missense |
probably benign |
|
|
R5834:Dcaf13
|
UTSW |
15 |
39,007,037 (GRCm39) |
nonsense |
probably null |
|
|
R5929:Dcaf13
|
UTSW |
15 |
39,007,048 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5944:Dcaf13
|
UTSW |
15 |
39,010,072 (GRCm39) |
missense |
probably benign |
|
|
R6319:Dcaf13
|
UTSW |
15 |
39,007,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Dcaf13
|
UTSW |
15 |
39,007,132 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6664:Dcaf13
|
UTSW |
15 |
38,982,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Dcaf13
|
UTSW |
15 |
38,986,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Dcaf13
|
UTSW |
15 |
38,993,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8750:Dcaf13
|
UTSW |
15 |
38,982,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Dcaf13
|
UTSW |
15 |
39,001,612 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9294:Dcaf13
|
UTSW |
15 |
38,993,687 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9300:Dcaf13
|
UTSW |
15 |
39,010,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Dcaf13
|
UTSW |
15 |
38,982,178 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9696:Dcaf13
|
UTSW |
15 |
39,001,496 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9778:Dcaf13
|
UTSW |
15 |
39,008,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Dcaf13
|
UTSW |
15 |
39,008,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation