Incidental Mutation 'IGL02431:Cfap20dc'
ID |
293124 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap20dc
|
Ensembl Gene |
ENSMUSG00000021747 |
Gene Name |
CFAP20 domain containing |
Synonyms |
4930452B06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL02431
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
13803533-14038581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8659424 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 57
(N57S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102996]
|
AlphaFold |
Q6P2K3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102996
AA Change: N57S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100061 Gene: ENSMUSG00000021747 AA Change: N57S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225744
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,706,010 (GRCm39) |
E758G |
probably damaging |
Het |
C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,841,750 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
Ptpn22 |
C |
A |
3: 103,810,713 (GRCm39) |
F713L |
probably benign |
Het |
Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
Vegfb |
C |
A |
19: 6,963,386 (GRCm39) |
|
probably null |
Het |
Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,617 (GRCm39) |
V72D |
probably damaging |
Het |
Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
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 |
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 |
|
R6438:Cfap20dc
|
UTSW |
14 |
8,431,701 (GRCm38) |
missense |
probably damaging |
0.98 |
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 |
|
|
Posted On |
2015-04-16 |