Incidental Mutation 'R0588:Dcaf6'
| ID |
55830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcaf6
|
| Ensembl Gene |
ENSMUSG00000026571 |
| Gene Name |
DDB1 and CUL4 associated factor 6 |
| Synonyms |
NRIP, Iqwd1, 1200006M05Rik, PC326 |
| MMRRC Submission |
038778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165247792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 147
(I147T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
| AlphaFold |
Q9DC22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027856
AA Change: I147T
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: I147T
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
40 |
79 |
5.77e-5 |
SMART |
|
WD40
|
82 |
124 |
1.2e-2 |
SMART |
|
WD40
|
130 |
170 |
2.15e-1 |
SMART |
|
WD40
|
184 |
220 |
3.33e-1 |
SMART |
|
WD40
|
238 |
281 |
6.66e-1 |
SMART |
|
low complexity region
|
364 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
676 |
N/A |
INTRINSIC |
|
IQ
|
691 |
713 |
1.25e1 |
SMART |
|
WD40
|
722 |
763 |
3.84e0 |
SMART |
|
WD40
|
766 |
805 |
1.22e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195686
|
| Meta Mutation Damage Score |
0.9164 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (25/25) |
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
| Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
| Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
| Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
| Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
| Gdap2 |
T |
A |
3: 100,077,317 (GRCm39) |
M1K |
probably null |
Het |
| Gprc5b |
T |
A |
7: 118,583,218 (GRCm39) |
Q217L |
probably benign |
Het |
| Lrrc69 |
A |
G |
4: 14,704,001 (GRCm39) |
I273T |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
| Npy6r |
T |
A |
18: 44,408,888 (GRCm39) |
V103E |
possibly damaging |
Het |
| Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,638 (GRCm39) |
T416A |
probably damaging |
Het |
| Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,106 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dcaf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Dcaf6
|
APN |
1 |
165,165,916 (GRCm39) |
splice site |
probably benign |
|
|
IGL01377:Dcaf6
|
APN |
1 |
165,216,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02027:Dcaf6
|
APN |
1 |
165,251,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Dcaf6
|
APN |
1 |
165,250,490 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02754:Dcaf6
|
APN |
1 |
165,165,915 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02900:Dcaf6
|
APN |
1 |
165,227,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Dcaf6
|
APN |
1 |
165,167,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03211:Dcaf6
|
APN |
1 |
165,250,502 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1494:Dcaf6
|
UTSW |
1 |
165,160,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Dcaf6
|
UTSW |
1 |
165,179,589 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1840:Dcaf6
|
UTSW |
1 |
165,227,317 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2191:Dcaf6
|
UTSW |
1 |
165,250,433 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2297:Dcaf6
|
UTSW |
1 |
165,227,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Dcaf6
|
UTSW |
1 |
165,250,421 (GRCm39) |
splice site |
probably benign |
|
|
R3861:Dcaf6
|
UTSW |
1 |
165,256,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Dcaf6
|
UTSW |
1 |
165,251,949 (GRCm39) |
nonsense |
probably null |
|
|
R4521:Dcaf6
|
UTSW |
1 |
165,218,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4531:Dcaf6
|
UTSW |
1 |
165,239,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Dcaf6
|
UTSW |
1 |
165,239,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4916:Dcaf6
|
UTSW |
1 |
165,247,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Dcaf6
|
UTSW |
1 |
165,216,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5080:Dcaf6
|
UTSW |
1 |
165,247,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Dcaf6
|
UTSW |
1 |
165,157,572 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5277:Dcaf6
|
UTSW |
1 |
165,251,915 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5512:Dcaf6
|
UTSW |
1 |
165,227,404 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5914:Dcaf6
|
UTSW |
1 |
165,178,724 (GRCm39) |
missense |
probably benign |
|
|
R6004:Dcaf6
|
UTSW |
1 |
165,216,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dcaf6
|
UTSW |
1 |
165,178,839 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6736:Dcaf6
|
UTSW |
1 |
165,227,354 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7051:Dcaf6
|
UTSW |
1 |
165,251,886 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7110:Dcaf6
|
UTSW |
1 |
165,179,537 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7583:Dcaf6
|
UTSW |
1 |
165,160,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Dcaf6
|
UTSW |
1 |
165,179,623 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Dcaf6
|
UTSW |
1 |
165,227,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Dcaf6
|
UTSW |
1 |
165,185,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Dcaf6
|
UTSW |
1 |
165,216,244 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9061:Dcaf6
|
UTSW |
1 |
165,164,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9307:Dcaf6
|
UTSW |
1 |
165,227,236 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9375:Dcaf6
|
UTSW |
1 |
165,185,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Dcaf6
|
UTSW |
1 |
165,227,264 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGAATCATAACATTTTGCACATCACTTGT -3'
(R):5'- CCATGCACCATGTATTCCATTCGCT -3'
Sequencing Primer
(F):5'- GCACATCACTTGTATAAAACTTGG -3'
(R):5'- gcctcctgcctttaccttc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation