Incidental Mutation 'R4531:Dcaf6'
| ID |
333100 |
| 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 |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165239036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
| AlphaFold |
Q9DC22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027856
AA Change: T229A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: T229A
| 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 |
0.0851 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
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 |
|
R0588:Dcaf6
|
UTSW |
1 |
165,247,792 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- GTATCAAAAGATGGCCTAGTCGG -3'
(R):5'- TAGCTATATGTACCTGGTCTTGC -3'
Sequencing Primer
(F):5'- CATTGGACACGCAGACTTTG -3'
(R):5'- ATATGTACCTGGTCTTGCATCTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation