Incidental Mutation 'R5455:Cfap20dc'
ID |
432728 |
Institutional Source |
Beutler Lab
|
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 # |
R5455 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
13803533-14038581 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 8536516 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102996]
|
AlphaFold |
Q6P2K3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000102996
|
SMART Domains |
Protein: ENSMUSP00000100061 Gene: ENSMUSG00000021747
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAATGCTCACATGCCAAGTTC -3'
(R):5'- AGTTTGCTTAGTTGGCAGCAAG -3'
Sequencing Primer
(F):5'- CTCACATGCCAAGTTCTTTATGTAGG -3'
(R):5'- CAAGGGCTTGCATTTGGGG -3'
|
Posted On |
2016-10-06 |