Incidental Mutation 'R8731:Dcaf7'
| ID |
662765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf7
|
| Ensembl Gene |
ENSMUSG00000049354 |
| Gene Name |
DDB1 and CUL4 associated factor 7 |
| Synonyms |
2610037L01Rik, Wdr68, 1700012F10Rik |
| MMRRC Submission |
068579-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8731 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
105927698-105950150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105945548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 299
(M299K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058438]
|
| AlphaFold |
P61963 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058438
AA Change: M299K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
AA Change: M299K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
58 |
99 |
3.42e1 |
SMART |
|
WD40
|
104 |
149 |
1.43e1 |
SMART |
|
WD40
|
163 |
205 |
3.81e-5 |
SMART |
|
WD40
|
211 |
251 |
1.1e2 |
SMART |
|
WD40
|
255 |
295 |
8.88e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.3221 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 95.9%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
T |
3: 59,932,367 (GRCm39) |
D294V |
probably benign |
Het |
| Abcc8 |
T |
G |
7: 45,803,986 (GRCm39) |
Y396S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,861,426 (GRCm39) |
F192I |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 107,964,422 (GRCm39) |
S494P |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,619,242 (GRCm39) |
|
probably null |
Het |
| Cap2 |
T |
C |
13: 46,800,006 (GRCm39) |
M404T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,892,788 (GRCm39) |
D1450V |
probably damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,163,747 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,752,756 (GRCm39) |
S342A |
|
Het |
| Cox10 |
A |
G |
11: 63,855,045 (GRCm39) |
F412S |
probably damaging |
Het |
| Cracr2a |
T |
G |
6: 127,602,890 (GRCm39) |
|
probably null |
Het |
| Dffb |
T |
C |
4: 154,059,101 (GRCm39) |
T59A |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,844,535 (GRCm39) |
M234V |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,072 (GRCm39) |
V1116E |
possibly damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,157 (GRCm39) |
C39Y |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,607,018 (GRCm39) |
V2565D |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,968,898 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Gm21680 |
A |
T |
5: 26,173,230 (GRCm39) |
V210D |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,089,434 (GRCm39) |
N163K |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,126,699 (GRCm39) |
V78A |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,234,555 (GRCm39) |
T509A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,925,574 (GRCm39) |
M60T |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,742,016 (GRCm39) |
Q686R |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk3 |
T |
G |
8: 86,085,634 (GRCm39) |
E300A |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,799,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,486 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
C |
14: 123,837,266 (GRCm39) |
I33V |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,814,609 (GRCm39) |
Y270C |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,268 (GRCm39) |
A96V |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,608,928 (GRCm39) |
M205T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,605,059 (GRCm39) |
V1615E |
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn3a |
A |
T |
2: 65,298,507 (GRCm39) |
Y1397* |
probably null |
Het |
| Scrib |
A |
T |
15: 75,935,488 (GRCm39) |
H549Q |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,631,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,541 (GRCm39) |
S148T |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,415,435 (GRCm39) |
L590Q |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,673,596 (GRCm39) |
V1567A |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,717,310 (GRCm39) |
F237S |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,629,363 (GRCm39) |
L737Q |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,404 (GRCm39) |
F726L |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,589,447 (GRCm39) |
L823* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,265,756 (GRCm39) |
N508D |
probably benign |
Het |
|
| Other mutations in Dcaf7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Dcaf7
|
APN |
11 |
105,945,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01584:Dcaf7
|
APN |
11 |
105,944,653 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02398:Dcaf7
|
APN |
11 |
105,944,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02516:Dcaf7
|
APN |
11 |
105,942,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Dcaf7
|
APN |
11 |
105,945,684 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02892:Dcaf7
|
APN |
11 |
105,937,518 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02953:Dcaf7
|
APN |
11 |
105,942,702 (GRCm39) |
nonsense |
probably null |
|
|
Camomile
|
UTSW |
11 |
105,945,548 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Nescafe
|
UTSW |
11 |
105,942,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0179:Dcaf7
|
UTSW |
11 |
105,942,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0539:Dcaf7
|
UTSW |
11 |
105,942,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1471:Dcaf7
|
UTSW |
11 |
105,937,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1647:Dcaf7
|
UTSW |
11 |
105,942,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Dcaf7
|
UTSW |
11 |
105,942,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Dcaf7
|
UTSW |
11 |
105,945,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4656:Dcaf7
|
UTSW |
11 |
105,944,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Dcaf7
|
UTSW |
11 |
105,928,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6192:Dcaf7
|
UTSW |
11 |
105,942,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Dcaf7
|
UTSW |
11 |
105,945,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Dcaf7
|
UTSW |
11 |
105,937,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Dcaf7
|
UTSW |
11 |
105,928,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7253:Dcaf7
|
UTSW |
11 |
105,938,669 (GRCm39) |
splice site |
probably null |
|
|
R7446:Dcaf7
|
UTSW |
11 |
105,944,561 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7631:Dcaf7
|
UTSW |
11 |
105,944,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8109:Dcaf7
|
UTSW |
11 |
105,937,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8480:Dcaf7
|
UTSW |
11 |
105,945,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8489:Dcaf7
|
UTSW |
11 |
105,942,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Dcaf7
|
UTSW |
11 |
105,942,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Dcaf7
|
UTSW |
11 |
105,942,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Dcaf7
|
UTSW |
11 |
105,942,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Dcaf7
|
UTSW |
11 |
105,944,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCTTAATGACACCTGG -3'
(R):5'- CTTCTTACATGGGAGGGAAGGG -3'
Sequencing Primer
(F):5'- AGCAAGTCTGGTGACATTCC -3'
(R):5'- GAGGCTGAAGCACACAAGCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation