Incidental Mutation 'IGL03204:Cfap20dc'
ID |
413085 |
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: 0.072)
|
Stock # |
IGL03204
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
13803533-14038581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8644436 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 80
(I80T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102996]
|
AlphaFold |
Q6P2K3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102996
AA Change: I80T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000100061 Gene: ENSMUSG00000021747 AA Change: I80T
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14a |
A |
T |
9: 106,317,834 (GRCm39) |
F191I |
probably damaging |
Het |
Actc1 |
A |
T |
2: 113,880,011 (GRCm39) |
S201T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,534,023 (GRCm39) |
D291E |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,105,083 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
T |
A |
12: 102,774,239 (GRCm39) |
R510* |
probably null |
Het |
Eif4a3 |
A |
T |
11: 119,184,442 (GRCm39) |
D249E |
possibly damaging |
Het |
Elovl6 |
A |
G |
3: 129,426,993 (GRCm39) |
M220V |
probably benign |
Het |
Ets1 |
C |
T |
9: 32,644,308 (GRCm39) |
S156L |
possibly damaging |
Het |
Gja8 |
C |
T |
3: 96,827,408 (GRCm39) |
V85I |
probably damaging |
Het |
Glipr2 |
T |
A |
4: 43,970,507 (GRCm39) |
D7E |
probably benign |
Het |
Il22 |
C |
T |
10: 118,041,085 (GRCm39) |
|
probably benign |
Het |
Itln1 |
A |
G |
1: 171,358,172 (GRCm39) |
V80A |
probably damaging |
Het |
Kdr |
A |
T |
5: 76,133,042 (GRCm39) |
C79S |
possibly damaging |
Het |
Kif26a |
A |
T |
12: 112,141,213 (GRCm39) |
H672L |
probably damaging |
Het |
Klhl40 |
A |
T |
9: 121,611,696 (GRCm39) |
T570S |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,249,070 (GRCm39) |
|
probably benign |
Het |
Magi3 |
T |
A |
3: 104,013,151 (GRCm39) |
N112I |
probably damaging |
Het |
Moxd2 |
T |
C |
6: 40,864,239 (GRCm39) |
T64A |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,141,122 (GRCm39) |
V728A |
possibly damaging |
Het |
Or8u10 |
G |
T |
2: 85,916,015 (GRCm39) |
Y35* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,587,665 (GRCm39) |
I2517V |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
Smg9 |
A |
G |
7: 24,120,337 (GRCm39) |
E437G |
probably benign |
Het |
Snx4 |
A |
G |
16: 33,090,039 (GRCm39) |
K188R |
probably benign |
Het |
Sox14 |
A |
G |
9: 99,757,110 (GRCm39) |
S210P |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,194,434 (GRCm39) |
F77L |
probably benign |
Het |
Spata18 |
G |
T |
5: 73,828,449 (GRCm39) |
|
probably benign |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,212,002 (GRCm39) |
H356R |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,080,785 (GRCm39) |
D1380G |
possibly damaging |
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 |
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 |
2016-08-02 |