Incidental Mutation 'R0590:Dcaf13'
ID |
55941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf13
|
Ensembl Gene |
ENSMUSG00000022300 |
Gene Name |
DDB1 and CUL4 associated factor 13 |
Synonyms |
Wdsof1, LOC223499 |
MMRRC Submission |
038780-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R0590 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
38976300-39010251 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 39008480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022909]
|
AlphaFold |
Q6PAC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022909
|
SMART Domains |
Protein: ENSMUSP00000022909 Gene: ENSMUSG00000022300
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
C |
T |
4: 49,383,273 (GRCm39) |
M93I |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,949,073 (GRCm39) |
D196G |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,618,378 (GRCm39) |
|
probably null |
Het |
AI661453 |
A |
G |
17: 47,777,999 (GRCm39) |
|
probably benign |
Het |
Apc |
G |
T |
18: 34,449,283 (GRCm39) |
E2026* |
probably null |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,219,575 (GRCm39) |
S688P |
probably damaging |
Het |
Ccdc191 |
C |
T |
16: 43,751,704 (GRCm39) |
R345* |
probably null |
Het |
Drc1 |
A |
G |
5: 30,520,480 (GRCm39) |
D607G |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,579,683 (GRCm39) |
R841G |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,167,432 (GRCm39) |
A607E |
possibly damaging |
Het |
Gls |
G |
A |
1: 52,251,534 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
T |
11: 57,180,235 (GRCm39) |
Q728H |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,029,487 (GRCm39) |
L198P |
probably damaging |
Het |
Ifngr1 |
T |
A |
10: 19,479,690 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,769 (GRCm39) |
V954A |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 75,012,035 (GRCm39) |
A628D |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,410,210 (GRCm39) |
S646P |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,935,966 (GRCm39) |
S133P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,027,302 (GRCm39) |
M7143V |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,059,169 (GRCm39) |
P229S |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,413,119 (GRCm39) |
T169A |
probably damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,429 (GRCm39) |
Y398H |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,815 (GRCm39) |
E511G |
probably damaging |
Het |
Ocstamp |
T |
A |
2: 165,239,671 (GRCm39) |
R172W |
probably damaging |
Het |
Or10ag60 |
A |
G |
2: 87,438,338 (GRCm39) |
E202G |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,766 (GRCm39) |
M136K |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,056,017 (GRCm39) |
V207A |
probably benign |
Het |
Phf14 |
G |
A |
6: 11,961,577 (GRCm39) |
V405I |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,057 (GRCm39) |
R238H |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,792 (GRCm39) |
E1240G |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,598,961 (GRCm39) |
I899T |
possibly damaging |
Het |
Psip1 |
T |
C |
4: 83,376,381 (GRCm39) |
N486S |
probably benign |
Het |
Rlf |
A |
G |
4: 121,028,030 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,997,759 (GRCm39) |
S255P |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,896,642 (GRCm39) |
L134P |
probably damaging |
Het |
Sema6c |
A |
G |
3: 95,079,934 (GRCm39) |
K711E |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,237 (GRCm39) |
|
probably benign |
Het |
Trim36 |
T |
G |
18: 46,305,643 (GRCm39) |
S435R |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,232 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,349 (GRCm39) |
V143A |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,763,131 (GRCm39) |
Q2166L |
probably benign |
Het |
Zc3h7b |
C |
T |
15: 81,661,199 (GRCm39) |
T346M |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,693 (GRCm39) |
V2617D |
probably damaging |
Het |
|
Other mutations in Dcaf13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00787:Dcaf13
|
APN |
15 |
39,007,027 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTGACTGACTGCTCCTGATGCC -3'
(R):5'- GCGAAGAGTCAACGGTCTCAACAC -3'
Sequencing Primer
(F):5'- AGCTCACACTGCTGCTTAC -3'
(R):5'- GTCTCAACACATACTTTCGGCG -3'
|
Posted On |
2013-07-11 |