Incidental Mutation 'R5091:Dcaf6'
| ID |
453052 |
| 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 |
042680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5091 (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 165157572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 856
(D856G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
[ENSMUST00000111450]
|
| AlphaFold |
Q9DC22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027856
AA Change: D856G
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: D856G
| 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 |
probably benign
Transcript: ENSMUST00000111450
|
| SMART Domains |
Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
48 |
261 |
1.1e-6 |
PFAM |
|
Pfam:7tm_1
|
57 |
337 |
3e-47 |
PFAM |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193353
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
| Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
| Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 110,976,237 (GRCm39) |
V198A |
possibly damaging |
Het |
| Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
| Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
| Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
| Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
| Gnl3 |
T |
A |
14: 30,738,803 (GRCm39) |
H82L |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
| Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
| Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
| Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
| Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,185,838 (GRCm39) |
N300K |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,568,907 (GRCm39) |
K18* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
| Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
| Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
| Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
| Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,205 (GRCm39) |
K784R |
possibly damaging |
Het |
| Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
| Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
probably damaging |
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 |
|
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 |
|
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'- TCCATACACGGCAAAAGGTTTCAA -3'
(R):5'- CATGGGTGCACATACATAGAATTT -3'
Sequencing Primer
(F):5'- GTTTTACACACTCTCCCAACTCATG -3'
(R):5'- ATCTCTGTGAATTAGAGGCCAGCC -3'
|
| Posted On |
2017-01-26 |
Incidental Mutation