Incidental Mutation 'R6167:Dcaf7'
ID |
490204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcaf7
|
Ensembl Gene |
ENSMUSG00000049354 |
Gene Name |
DDB1 and CUL4 associated factor 7 |
Synonyms |
2610037L01Rik, Wdr68, 1700012F10Rik |
MMRRC Submission |
044313-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6167 (G1)
|
Quality Score |
187.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
105927698-105950150 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105928077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 43
(Y43F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001965]
[ENSMUST00000058438]
[ENSMUST00000106903]
[ENSMUST00000145539]
|
AlphaFold |
P61963 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001965
|
SMART Domains |
Protein: ENSMUSP00000001965 Gene: ENSMUSG00000001901
Domain | Start | End | E-Value | Type |
Blast:PAS
|
13 |
87 |
2e-43 |
BLAST |
PAC
|
93 |
135 |
4.06e-2 |
SMART |
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
256 |
523 |
6.8e-40 |
PFAM |
Pfam:Ion_trans_2
|
445 |
517 |
2.6e-13 |
PFAM |
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
coiled coil region
|
782 |
809 |
N/A |
INTRINSIC |
low complexity region
|
901 |
912 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058438
AA Change: Y43F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058168 Gene: ENSMUSG00000049354 AA Change: Y43F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106903
|
SMART Domains |
Protein: ENSMUSP00000102516 Gene: ENSMUSG00000001901
Domain | Start | End | E-Value | Type |
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
PAC
|
93 |
135 |
4.06e-2 |
SMART |
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
transmembrane domain
|
258 |
280 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
302 |
420 |
6.2e-10 |
PFAM |
Pfam:Ion_trans_2
|
395 |
464 |
2.6e-9 |
PFAM |
cNMP
|
541 |
659 |
3.21e-23 |
SMART |
coiled coil region
|
729 |
756 |
N/A |
INTRINSIC |
low complexity region
|
848 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145539
|
SMART Domains |
Protein: ENSMUSP00000137675 Gene: ENSMUSG00000001901
Domain | Start | End | E-Value | Type |
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
PAC
|
93 |
135 |
4.06e-2 |
SMART |
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
302 |
511 |
1.4e-22 |
PFAM |
Pfam:Ion_trans_2
|
442 |
517 |
2e-13 |
PFAM |
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
low complexity region
|
764 |
775 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (50/51) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
Epha3 |
T |
C |
16: 63,433,287 (GRCm39) |
I453V |
probably benign |
Het |
Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
Gabbr1 |
T |
C |
17: 37,374,271 (GRCm39) |
I538T |
probably damaging |
Het |
Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,876,190 (GRCm39) |
M825K |
probably damaging |
Het |
Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
Mak |
C |
A |
13: 41,206,828 (GRCm39) |
V101F |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
Tmpo |
C |
T |
10: 90,998,800 (GRCm39) |
R329H |
probably benign |
Het |
Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
probably damaging |
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 |
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 |
R8731:Dcaf7
|
UTSW |
11 |
105,945,548 (GRCm39) |
missense |
possibly damaging |
0.93 |
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'- TGCCCGAGCTGGTTTGAAAC -3'
(R):5'- ATGTCACAACACCGTGCCTC -3'
Sequencing Primer
(F):5'- AGTGTGTGTAGCCGAGGACC -3'
(R):5'- CCCGGCTGTCAAAACTAAATAAGAGG -3'
|
Posted On |
2017-10-10 |