Incidental Mutation 'R6004:Dcaf6'
| ID |
478491 |
| 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 |
044182-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165157069-165288475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165216254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 450
(S450P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027856]
|
| AlphaFold |
Q9DC22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027856
AA Change: S450P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000027856
Gene: ENSMUSG00000026571
AA Change: S450P
| 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 |
unknown
Transcript: ENSMUST00000194869
AA Change: S21P
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195220
AA Change: S26P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195686
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
C |
T |
3: 97,082,997 (GRCm39) |
A336V |
probably benign |
Het |
| Adam5 |
T |
A |
8: 25,271,685 (GRCm39) |
Y574F |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,257 (GRCm39) |
W80R |
probably damaging |
Het |
| Bmal1 |
A |
T |
7: 112,879,934 (GRCm39) |
D22V |
probably damaging |
Het |
| Cars2 |
A |
G |
8: 11,597,743 (GRCm39) |
I111T |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,553,987 (GRCm39) |
L317S |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,664 (GRCm39) |
D262G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,520 (GRCm39) |
D164G |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,503,239 (GRCm39) |
T218P |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,239 (GRCm39) |
N351S |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,510 (GRCm39) |
E241G |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,255 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ighv1-65 |
C |
T |
12: 115,496,056 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp4a |
T |
C |
1: 37,411,451 (GRCm39) |
S372P |
probably damaging |
Het |
| Itgax |
A |
T |
7: 127,730,624 (GRCm39) |
H114L |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,111,781 (GRCm39) |
F746L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,393,362 (GRCm39) |
V688M |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,922,923 (GRCm39) |
V28A |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,463 (GRCm39) |
D166V |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,176,377 (GRCm39) |
C982Y |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,478,922 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
T |
16: 48,980,062 (GRCm39) |
M1395L |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,113,950 (GRCm39) |
E642G |
probably benign |
Het |
| Nrg4 |
T |
C |
9: 55,166,667 (GRCm39) |
T68A |
possibly damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,438,253 (GRCm39) |
F174I |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,343 (GRCm39) |
N47D |
probably benign |
Het |
| Or4f60 |
G |
T |
2: 111,902,371 (GRCm39) |
L186I |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,759 (GRCm39) |
Y118N |
probably benign |
Het |
| Or8b41 |
A |
G |
9: 38,055,256 (GRCm39) |
K270R |
probably damaging |
Het |
| Or9g20 |
A |
T |
2: 85,629,726 (GRCm39) |
V296E |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,715,390 (GRCm39) |
I429F |
probably damaging |
Het |
| Pank4 |
G |
T |
4: 155,061,678 (GRCm39) |
G532C |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,710,315 (GRCm39) |
T1150A |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,224 (GRCm39) |
|
probably null |
Het |
| Prkrip1 |
A |
G |
5: 136,226,636 (GRCm39) |
M68T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,247,293 (GRCm39) |
I123N |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,267,808 (GRCm39) |
T825P |
unknown |
Het |
| Rttn |
T |
C |
18: 89,039,816 (GRCm39) |
I839T |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,707 (GRCm39) |
Q1042* |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,088,925 (GRCm39) |
T240A |
probably benign |
Het |
| Speg |
A |
T |
1: 75,392,247 (GRCm39) |
K1382* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,513,282 (GRCm39) |
D68E |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,287,468 (GRCm39) |
D131V |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,926,570 (GRCm39) |
C152S |
probably damaging |
Het |
| Timm44 |
G |
T |
8: 4,317,747 (GRCm39) |
D191E |
probably benign |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,987 (GRCm39) |
V148A |
probably damaging |
Het |
| Trp63 |
T |
C |
16: 25,582,146 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Vmn2r10 |
T |
G |
5: 109,146,944 (GRCm39) |
N448T |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,783,986 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,328 (GRCm39) |
H497R |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,176,131 (GRCm39) |
V83A |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,075,858 (GRCm39) |
N861I |
possibly damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,769 (GRCm39) |
C253R |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,556 (GRCm39) |
T84A |
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 |
|
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 |
|
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 |
|
|
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'- TCATGAAAACTAGACACGCTTG -3'
(R):5'- GCCAGATGTTTCAACTCTTCCTACG -3'
Sequencing Primer
(F):5'- ACTAGACACGCTTGAATTTTGTG -3'
(R):5'- ACGGTTCCATCAAGTCCTAATTTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation