Incidental Mutation 'R6664:Dcaf13'
| ID |
526918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf13
|
| Ensembl Gene |
ENSMUSG00000022300 |
| Gene Name |
DDB1 and CUL4 associated factor 13 |
| Synonyms |
Wdsof1, LOC223499 |
| MMRRC Submission |
044784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
38976300-39010251 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38982283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 83
(L83P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022909]
|
| AlphaFold |
Q6PAC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022909
AA Change: L83P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022909
Gene: ENSMUSG00000022300
AA Change: L83P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,503,969 (GRCm39) |
*394W |
probably null |
Het |
| AU040320 |
A |
T |
4: 126,729,443 (GRCm39) |
Y535F |
probably damaging |
Het |
| Auh |
G |
C |
13: 53,052,703 (GRCm39) |
S138W |
probably damaging |
Het |
| Bmp2k |
A |
T |
5: 97,235,989 (GRCm39) |
K1137N |
probably benign |
Het |
| Btn1a1 |
A |
G |
13: 23,643,490 (GRCm39) |
Y320H |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,315,966 (GRCm39) |
Q479* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,743,759 (GRCm39) |
S399T |
probably benign |
Het |
| Fbxo45 |
T |
C |
16: 32,057,234 (GRCm39) |
N220S |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,267,326 (GRCm39) |
M302V |
probably benign |
Het |
| Fgb |
A |
T |
3: 82,954,066 (GRCm39) |
S57R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,289,824 (GRCm39) |
V134A |
probably damaging |
Het |
| Gatad2a |
A |
G |
8: 70,370,139 (GRCm39) |
L189P |
probably damaging |
Het |
| Ifitm7 |
T |
C |
16: 13,801,613 (GRCm39) |
T49A |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,655,393 (GRCm39) |
T601A |
probably damaging |
Het |
| Jmjd4 |
T |
C |
11: 59,341,245 (GRCm39) |
F59L |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,907,395 (GRCm39) |
S1323L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,610 (GRCm39) |
E732G |
probably benign |
Het |
| Nr4a3 |
G |
A |
4: 48,056,006 (GRCm39) |
R344Q |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,110 (GRCm39) |
N171S |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,395 (GRCm39) |
S240R |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 98,976,591 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prl3a1 |
C |
A |
13: 27,454,194 (GRCm39) |
Y57* |
probably null |
Het |
| Ripor2 |
A |
T |
13: 24,859,803 (GRCm39) |
I164F |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,846,757 (GRCm39) |
E146G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,942 (GRCm39) |
R581C |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,746 (GRCm39) |
D747E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp945 |
A |
G |
17: 23,071,339 (GRCm39) |
S187P |
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 |
|
|
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 |
|
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'- CTTTCCACAGGAAGTAGTAAATGTG -3'
(R):5'- ATGGAACCTTACACCACTGAACTG -3'
Sequencing Primer
(F):5'- AGAGCGATTGTTCTTATTTCAGTCC -3'
(R):5'- CCACTGAACTGACACCATTTTAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation