Incidental Mutation 'R6438:Cfap20dc'
ID |
518868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap20dc
|
Ensembl Gene |
ENSMUSG00000021747 |
Gene Name |
CFAP20 domain containing |
Synonyms |
4930452B06Rik |
MMRRC Submission |
044576-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6438 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
13803533-14038581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 8431701 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 644
(V644M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102996]
|
AlphaFold |
Q6P2K3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102996
AA Change: V644M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000100061 Gene: ENSMUSG00000021747 AA Change: V644M
Domain | Start | End | E-Value | Type |
Pfam:DUF667
|
1 |
188 |
1.7e-43 |
PFAM |
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
low complexity region
|
506 |
519 |
N/A |
INTRINSIC |
low complexity region
|
568 |
578 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
low complexity region
|
639 |
650 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ado |
A |
T |
10: 67,384,371 (GRCm39) |
I78N |
probably damaging |
Het |
Arhgap18 |
T |
C |
10: 26,648,694 (GRCm39) |
|
probably null |
Het |
Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
Atxn2 |
T |
A |
5: 121,917,495 (GRCm39) |
I463N |
probably damaging |
Het |
B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
C1ra |
C |
T |
6: 124,490,736 (GRCm39) |
T43I |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,826,465 (GRCm39) |
Y683N |
possibly damaging |
Het |
Catspere2 |
T |
C |
1: 177,938,869 (GRCm39) |
Y581H |
possibly damaging |
Het |
Cdk12 |
T |
A |
11: 98,115,293 (GRCm39) |
Y811* |
probably null |
Het |
Chd9 |
A |
T |
8: 91,725,149 (GRCm39) |
E1159D |
probably benign |
Het |
Efcab7 |
T |
A |
4: 99,766,969 (GRCm39) |
S505T |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,401,390 (GRCm39) |
Y13F |
probably damaging |
Het |
Esco1 |
A |
T |
18: 10,572,031 (GRCm39) |
C770S |
probably damaging |
Het |
Evpl |
C |
A |
11: 116,120,927 (GRCm39) |
R436L |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,663,970 (GRCm39) |
|
probably null |
Het |
Gm17078 |
A |
G |
14: 51,848,695 (GRCm39) |
V14A |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,596,242 (GRCm39) |
*776Q |
probably null |
Het |
Ldb2 |
T |
C |
5: 44,637,652 (GRCm39) |
R219G |
probably damaging |
Het |
Lrrn4 |
T |
C |
2: 132,712,062 (GRCm39) |
E587G |
probably damaging |
Het |
Malrd1 |
T |
C |
2: 15,619,017 (GRCm39) |
S294P |
|
Het |
Map7 |
A |
G |
10: 20,143,003 (GRCm39) |
E384G |
unknown |
Het |
Miga1 |
T |
C |
3: 152,028,040 (GRCm39) |
D163G |
probably damaging |
Het |
Myo7b |
G |
A |
18: 32,099,382 (GRCm39) |
S1680F |
probably damaging |
Het |
Nell2 |
C |
T |
15: 95,130,379 (GRCm39) |
V665M |
probably damaging |
Het |
Npas3 |
T |
C |
12: 54,115,481 (GRCm39) |
V770A |
probably damaging |
Het |
Pcm1 |
C |
T |
8: 41,778,418 (GRCm39) |
R1818W |
possibly damaging |
Het |
Slc4a9 |
T |
A |
18: 36,668,740 (GRCm39) |
N701K |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,749,022 (GRCm39) |
V187A |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,214,725 (GRCm39) |
C654S |
probably damaging |
Het |
Srek1ip1 |
A |
G |
13: 104,973,878 (GRCm39) |
Y95C |
probably benign |
Het |
Synpo2l |
A |
G |
14: 20,711,204 (GRCm39) |
V472A |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,602,673 (GRCm39) |
I231N |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,314,266 (GRCm39) |
M717T |
probably benign |
Het |
Zfp672 |
T |
C |
11: 58,207,563 (GRCm39) |
T253A |
probably benign |
Het |
|
Other mutations in Cfap20dc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Cfap20dc
|
APN |
14 |
8,473,370 (GRCm38) |
missense |
possibly damaging |
0.57 |
IGL02010:Cfap20dc
|
APN |
14 |
8,578,384 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL02385:Cfap20dc
|
APN |
14 |
8,510,920 (GRCm38) |
missense |
possibly damaging |
0.59 |
IGL02431:Cfap20dc
|
APN |
14 |
8,659,424 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02723:Cfap20dc
|
APN |
14 |
8,516,507 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02865:Cfap20dc
|
APN |
14 |
8,517,940 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03030:Cfap20dc
|
APN |
14 |
8,511,113 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03204:Cfap20dc
|
APN |
14 |
8,644,436 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL03014:Cfap20dc
|
UTSW |
14 |
8,431,608 (GRCm38) |
makesense |
probably null |
|
R0197:Cfap20dc
|
UTSW |
14 |
8,518,695 (GRCm38) |
missense |
probably damaging |
1.00 |
R0265:Cfap20dc
|
UTSW |
14 |
8,431,667 (GRCm38) |
missense |
probably damaging |
1.00 |
R0513:Cfap20dc
|
UTSW |
14 |
8,536,609 (GRCm38) |
missense |
probably damaging |
1.00 |
R0647:Cfap20dc
|
UTSW |
14 |
8,536,655 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1168:Cfap20dc
|
UTSW |
14 |
8,442,939 (GRCm38) |
missense |
probably benign |
0.22 |
R1610:Cfap20dc
|
UTSW |
14 |
8,511,110 (GRCm38) |
missense |
probably benign |
0.00 |
R1625:Cfap20dc
|
UTSW |
14 |
8,431,668 (GRCm38) |
missense |
probably damaging |
1.00 |
R2010:Cfap20dc
|
UTSW |
14 |
8,511,021 (GRCm38) |
missense |
probably damaging |
1.00 |
R2084:Cfap20dc
|
UTSW |
14 |
8,558,171 (GRCm38) |
missense |
probably damaging |
1.00 |
R2174:Cfap20dc
|
UTSW |
14 |
8,558,109 (GRCm38) |
missense |
probably benign |
0.02 |
R3802:Cfap20dc
|
UTSW |
14 |
8,510,931 (GRCm38) |
missense |
probably benign |
0.00 |
R4244:Cfap20dc
|
UTSW |
14 |
8,482,521 (GRCm38) |
missense |
probably benign |
0.00 |
R4471:Cfap20dc
|
UTSW |
14 |
8,536,571 (GRCm38) |
missense |
probably damaging |
1.00 |
R4516:Cfap20dc
|
UTSW |
14 |
8,536,609 (GRCm38) |
missense |
probably damaging |
1.00 |
R4824:Cfap20dc
|
UTSW |
14 |
8,665,997 (GRCm38) |
start codon destroyed |
probably null |
0.93 |
R4884:Cfap20dc
|
UTSW |
14 |
8,578,394 (GRCm38) |
missense |
probably damaging |
0.97 |
R4975:Cfap20dc
|
UTSW |
14 |
8,518,736 (GRCm38) |
missense |
probably benign |
0.00 |
R5455:Cfap20dc
|
UTSW |
14 |
8,536,516 (GRCm38) |
critical splice donor site |
probably null |
|
R6280:Cfap20dc
|
UTSW |
14 |
8,473,414 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6639:Cfap20dc
|
UTSW |
14 |
8,536,530 (GRCm38) |
missense |
probably benign |
0.12 |
R7101:Cfap20dc
|
UTSW |
14 |
8,511,171 (GRCm38) |
missense |
possibly damaging |
0.75 |
R7456:Cfap20dc
|
UTSW |
14 |
8,442,933 (GRCm38) |
nonsense |
probably null |
|
R8266:Cfap20dc
|
UTSW |
14 |
8,482,599 (GRCm38) |
nonsense |
probably null |
|
R8854:Cfap20dc
|
UTSW |
14 |
8,518,638 (GRCm38) |
missense |
probably damaging |
1.00 |
R9053:Cfap20dc
|
UTSW |
14 |
8,518,768 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9157:Cfap20dc
|
UTSW |
14 |
8,518,635 (GRCm38) |
missense |
probably benign |
0.00 |
R9294:Cfap20dc
|
UTSW |
14 |
8,578,361 (GRCm38) |
missense |
possibly damaging |
0.84 |
R9313:Cfap20dc
|
UTSW |
14 |
8,518,635 (GRCm38) |
missense |
probably benign |
0.00 |
R9502:Cfap20dc
|
UTSW |
14 |
8,659,452 (GRCm38) |
missense |
probably damaging |
0.98 |
Z1177:Cfap20dc
|
UTSW |
14 |
8,517,953 (GRCm38) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAAAGCCACGCACTCAG -3'
(R):5'- TCCTTCATTGTGGAGCTGGC -3'
Sequencing Primer
(F):5'- CAGCTACAAAGAGAATGCAGATGTTC -3'
(R):5'- ACTTAGAGTGCTTGAGTGAATCCAG -3'
|
Posted On |
2018-05-24 |