Incidental Mutation 'IGL00775:Cfap299'
ID |
12407 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap299
|
Ensembl Gene |
ENSMUSG00000057816 |
Gene Name |
cilia and flagella associated protein 299 |
Synonyms |
1700007G11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
IGL00775
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
98477163-98949906 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98932369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 190
(Y190H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080333]
|
AlphaFold |
Q810M1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080333
AA Change: Y190H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079208 Gene: ENSMUSG00000057816 AA Change: Y190H
Domain | Start | End | E-Value | Type |
Pfam:DUF4464
|
12 |
232 |
7.1e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196339
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
A |
G |
7: 119,257,524 (GRCm39) |
N403S |
possibly damaging |
Het |
Adam32 |
T |
C |
8: 25,411,370 (GRCm39) |
Y92C |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,619,598 (GRCm39) |
G157D |
probably benign |
Het |
Champ1 |
T |
C |
8: 13,929,509 (GRCm39) |
S556P |
probably damaging |
Het |
Dnah8 |
T |
G |
17: 30,986,880 (GRCm39) |
Y3176* |
probably null |
Het |
Gbp8 |
T |
C |
5: 105,165,711 (GRCm39) |
N314S |
probably damaging |
Het |
Kif1c |
A |
G |
11: 70,614,960 (GRCm39) |
|
probably null |
Het |
Pcdhb22 |
T |
C |
18: 37,652,795 (GRCm39) |
V421A |
probably benign |
Het |
Plag1 |
A |
G |
4: 3,904,055 (GRCm39) |
S379P |
probably damaging |
Het |
Skint11 |
A |
T |
4: 114,051,889 (GRCm39) |
D79V |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,024,521 (GRCm39) |
T273A |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,620,974 (GRCm39) |
|
probably null |
Het |
Zscan21 |
C |
A |
5: 138,131,310 (GRCm39) |
S99* |
probably null |
Het |
|
Other mutations in Cfap299 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Cfap299
|
APN |
5 |
98,646,240 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02151:Cfap299
|
APN |
5 |
98,477,301 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Cfap299
|
UTSW |
5 |
98,855,367 (GRCm39) |
intron |
probably benign |
|
PIT4514001:Cfap299
|
UTSW |
5 |
98,949,730 (GRCm39) |
missense |
probably benign |
0.00 |
R0962:Cfap299
|
UTSW |
5 |
98,714,420 (GRCm39) |
intron |
probably benign |
|
R1545:Cfap299
|
UTSW |
5 |
98,477,291 (GRCm39) |
missense |
probably benign |
0.25 |
R1886:Cfap299
|
UTSW |
5 |
98,949,690 (GRCm39) |
missense |
probably benign |
0.41 |
R1954:Cfap299
|
UTSW |
5 |
98,714,612 (GRCm39) |
intron |
probably benign |
|
R1965:Cfap299
|
UTSW |
5 |
98,494,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Cfap299
|
UTSW |
5 |
98,885,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3873:Cfap299
|
UTSW |
5 |
98,885,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R4940:Cfap299
|
UTSW |
5 |
98,885,495 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5708:Cfap299
|
UTSW |
5 |
98,885,566 (GRCm39) |
missense |
probably benign |
|
R6509:Cfap299
|
UTSW |
5 |
98,477,256 (GRCm39) |
missense |
probably benign |
0.16 |
R6595:Cfap299
|
UTSW |
5 |
98,949,717 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7009:Cfap299
|
UTSW |
5 |
98,932,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R7911:Cfap299
|
UTSW |
5 |
98,885,567 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8211:Cfap299
|
UTSW |
5 |
98,477,294 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8317:Cfap299
|
UTSW |
5 |
98,885,459 (GRCm39) |
missense |
probably benign |
0.21 |
R9058:Cfap299
|
UTSW |
5 |
98,932,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R9293:Cfap299
|
UTSW |
5 |
98,646,162 (GRCm39) |
missense |
probably benign |
0.13 |
R9505:Cfap299
|
UTSW |
5 |
98,477,213 (GRCm39) |
start codon destroyed |
probably null |
0.21 |
R9681:Cfap299
|
UTSW |
5 |
98,477,214 (GRCm39) |
start codon destroyed |
probably null |
0.65 |
Z1177:Cfap299
|
UTSW |
5 |
98,949,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |