Incidental Mutation 'R1036:Dcaf13'
ID |
93820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf13
|
Ensembl Gene |
ENSMUSG00000022300 |
Gene Name |
DDB1 and CUL4 associated factor 13 |
Synonyms |
Wdsof1, LOC223499 |
MMRRC Submission |
039135-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R1036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
38976300-39010251 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39007113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 349
(I349N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022909]
|
AlphaFold |
Q6PAC3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022909
AA Change: I349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022909 Gene: ENSMUSG00000022300 AA Change: I349N
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 |
0.9423 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7) |
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
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 |
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'- AGGAGAAGCCAACTTTTGTGGAGTTT -3'
(R):5'- CCTTCCATCACAATGGTGTTACCCTGA -3'
Sequencing Primer
(F):5'- CTCCAGACACAAAAGTGGTTTTTC -3'
(R):5'- CACAATGGTGTTACCCTGATTAAG -3'
|
Posted On |
2014-01-05 |