Incidental Mutation 'R4743:Dcaf10'
| ID |
358169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf10
|
| Ensembl Gene |
ENSMUSG00000035572 |
| Gene Name |
DDB1 and CUL4 associated factor 10 |
| Synonyms |
Wdr32 |
| MMRRC Submission |
041967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45342101-45379759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45370409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 326
(S326T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153803]
[ENSMUST00000155551]
|
| AlphaFold |
A2AKB9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130821
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153803
AA Change: S22T
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121616
Gene: ENSMUSG00000035572
AA Change: S22T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
30 |
3e-11 |
BLAST |
|
Blast:WD40
|
127 |
165 |
2e-10 |
BLAST |
|
WD40
|
183 |
222 |
1.31e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155551
AA Change: S326T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117082
Gene: ENSMUSG00000035572
AA Change: S326T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
132 |
N/A |
INTRINSIC |
|
WD40
|
166 |
203 |
1.71e1 |
SMART |
|
WD40
|
206 |
245 |
7.85e-7 |
SMART |
|
WD40
|
249 |
288 |
2.59e-7 |
SMART |
|
WD40
|
295 |
334 |
2.05e1 |
SMART |
|
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
|
Blast:WD40
|
468 |
506 |
3e-10 |
BLAST |
|
WD40
|
524 |
563 |
1.31e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.2785 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
A |
G |
1: 85,858,972 (GRCm39) |
|
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,910,888 (GRCm39) |
N27D |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,011,013 (GRCm39) |
L572R |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,296,850 (GRCm39) |
S909P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,744,845 (GRCm39) |
E54G |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,744,255 (GRCm39) |
S1417P |
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,276,094 (GRCm39) |
Y69C |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,828,711 (GRCm39) |
E181G |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,631,256 (GRCm39) |
E253G |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,349,155 (GRCm39) |
T36K |
probably benign |
Het |
| Ewsr1 |
A |
T |
11: 5,033,541 (GRCm39) |
D210E |
unknown |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,111 (GRCm39) |
R862* |
probably null |
Het |
| Gbp8 |
T |
C |
5: 105,178,707 (GRCm39) |
K203E |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,292,970 (GRCm39) |
L79* |
probably null |
Het |
| Gm8220 |
T |
A |
14: 44,523,152 (GRCm39) |
|
probably benign |
Het |
| Gm9755 |
A |
T |
8: 67,966,929 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,042 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,270 (GRCm39) |
T2A |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,852,061 (GRCm39) |
Y876C |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,548 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rabgap1l |
G |
T |
1: 160,281,353 (GRCm39) |
Q623K |
probably damaging |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,080,375 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,927 (GRCm39) |
L386* |
probably null |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
T |
C |
6: 141,510,242 (GRCm39) |
C582R |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,906,517 (GRCm39) |
N520D |
probably benign |
Het |
| Tbc1d7 |
A |
G |
13: 43,323,325 (GRCm39) |
V22A |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,327,910 (GRCm39) |
V612A |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,483,627 (GRCm39) |
E488G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,566 (GRCm39) |
Y439C |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,661,054 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dcaf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02431:Dcaf10
|
APN |
4 |
45,342,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02660:Dcaf10
|
APN |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0048:Dcaf10
|
UTSW |
4 |
45,374,262 (GRCm39) |
nonsense |
probably null |
|
|
R0550:Dcaf10
|
UTSW |
4 |
45,372,753 (GRCm39) |
missense |
probably benign |
|
|
R0611:Dcaf10
|
UTSW |
4 |
45,373,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2289:Dcaf10
|
UTSW |
4 |
45,359,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Dcaf10
|
UTSW |
4 |
45,373,957 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3610:Dcaf10
|
UTSW |
4 |
45,372,962 (GRCm39) |
nonsense |
probably null |
|
|
R3735:Dcaf10
|
UTSW |
4 |
45,348,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4655:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4665:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4690:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4724:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4725:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4735:Dcaf10
|
UTSW |
4 |
45,372,769 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5220:Dcaf10
|
UTSW |
4 |
45,373,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5254:Dcaf10
|
UTSW |
4 |
45,370,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5855:Dcaf10
|
UTSW |
4 |
45,342,558 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6833:Dcaf10
|
UTSW |
4 |
45,373,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Dcaf10
|
UTSW |
4 |
45,342,391 (GRCm39) |
missense |
probably benign |
|
|
R7345:Dcaf10
|
UTSW |
4 |
45,342,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7366:Dcaf10
|
UTSW |
4 |
45,373,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Dcaf10
|
UTSW |
4 |
45,348,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTTCTGCTGTGTGAGTAAAAC -3'
(R):5'- TCTGAAGAATGGCTTTAACGTCC -3'
Sequencing Primer
(F):5'- CTGCTGTGTGAGTAAAACAGTTTGAC -3'
(R):5'- GAAGAATGGCTTTAACGTCCTTTCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation