Incidental Mutation 'R6509:Cfap299'
ID |
519862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap299
|
Ensembl Gene |
ENSMUSG00000057816 |
Gene Name |
cilia and flagella associated protein 299 |
Synonyms |
1700007G11Rik |
MMRRC Submission |
044422-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6509 (G1)
|
Quality Score |
190.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
98477163-98949906 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98477256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 15
(T15I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080333]
|
AlphaFold |
Q810M1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080333
AA Change: T15I
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079208 Gene: ENSMUSG00000057816 AA Change: T15I
Domain | Start | End | E-Value | Type |
Pfam:DUF4464
|
12 |
232 |
7.1e-100 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196339
AA Change: T9I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197812
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
G |
A |
5: 109,885,250 (GRCm39) |
R203* |
probably null |
Het |
Ccnc |
A |
G |
4: 21,740,642 (GRCm39) |
N133D |
probably benign |
Het |
Lbhd2 |
A |
G |
12: 111,376,747 (GRCm39) |
R65G |
possibly damaging |
Het |
Lrrc37a |
A |
G |
11: 103,395,240 (GRCm39) |
S62P |
probably benign |
Het |
Map3k1 |
T |
A |
13: 111,890,363 (GRCm39) |
M1279L |
possibly damaging |
Het |
Ncapg2 |
G |
A |
12: 116,391,376 (GRCm39) |
R475Q |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,117,341 (GRCm39) |
N355I |
probably damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,439 (GRCm39) |
V246A |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,333,298 (GRCm39) |
F241S |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,883,204 (GRCm39) |
S705P |
probably benign |
Het |
Rsbn1 |
A |
G |
3: 103,867,348 (GRCm39) |
Y563C |
probably damaging |
Het |
Septin9 |
A |
G |
11: 117,181,253 (GRCm39) |
I18V |
probably benign |
Het |
Sycp2 |
G |
A |
2: 178,037,687 (GRCm39) |
P153S |
probably damaging |
Het |
Tbc1d4 |
C |
A |
14: 101,845,754 (GRCm39) |
R48L |
possibly damaging |
Het |
Vmn1r195 |
G |
A |
13: 22,463,279 (GRCm39) |
G250R |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,656,054 (GRCm39) |
P321T |
probably benign |
Het |
|
Other mutations in Cfap299 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00775:Cfap299
|
APN |
5 |
98,932,369 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCGGACTTTGCTAAGGC -3'
(R):5'- ACTACTTTACAGCGACCAAGTC -3'
Sequencing Primer
(F):5'- GGACTTTGCTAAGGCTTTTACAC -3'
(R):5'- AAGTCGGCCTCTGTGCAG -3'
|
Posted On |
2018-06-06 |