Incidental Mutation 'IGL01968:Cfap90'
ID |
181590 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap90
|
Ensembl Gene |
ENSMUSG00000021534 |
Gene Name |
cilia and flagella associated protein 90 |
Synonyms |
1700001L19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL01968
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
68745558-68762350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 68759363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 112
(H112Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022007]
[ENSMUST00000222604]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022007
AA Change: H112Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022007 Gene: ENSMUSG00000021534 AA Change: H112Q
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
42 |
N/A |
INTRINSIC |
Pfam:DUF4541
|
77 |
168 |
1.2e-42 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222604
AA Change: H112Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 8,977,913 (GRCm39) |
D497G |
probably benign |
Het |
Adgra2 |
A |
T |
8: 27,611,263 (GRCm39) |
R856* |
probably null |
Het |
Chodl |
T |
A |
16: 78,738,557 (GRCm39) |
S138T |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 30,875,572 (GRCm39) |
R465* |
probably null |
Het |
Fgfr2 |
A |
G |
7: 129,786,978 (GRCm39) |
W358R |
probably damaging |
Het |
Iqgap2 |
G |
T |
13: 95,772,090 (GRCm39) |
A1363E |
possibly damaging |
Het |
Malt1 |
T |
A |
18: 65,582,087 (GRCm39) |
I317K |
probably benign |
Het |
Mrps5 |
A |
G |
2: 127,433,827 (GRCm39) |
N72S |
probably null |
Het |
Mst1r |
T |
A |
9: 107,794,005 (GRCm39) |
|
probably null |
Het |
Nars1 |
A |
T |
18: 64,640,929 (GRCm39) |
C176S |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,256,338 (GRCm39) |
M469K |
probably damaging |
Het |
Or4l1 |
A |
T |
14: 50,166,555 (GRCm39) |
W149R |
probably damaging |
Het |
Plxna4 |
T |
G |
6: 32,192,139 (GRCm39) |
D817A |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,930,052 (GRCm39) |
P303S |
probably benign |
Het |
Prkd2 |
G |
T |
7: 16,603,501 (GRCm39) |
|
probably null |
Het |
Sulf1 |
A |
T |
1: 12,888,675 (GRCm39) |
H320L |
probably damaging |
Het |
Use1 |
G |
A |
8: 71,819,711 (GRCm39) |
|
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,766 (GRCm39) |
D356G |
possibly damaging |
Het |
|
Other mutations in Cfap90 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02947:Cfap90
|
APN |
13 |
68,759,312 (GRCm39) |
missense |
probably benign |
0.08 |
R1510:Cfap90
|
UTSW |
13 |
68,745,596 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R1942:Cfap90
|
UTSW |
13 |
68,761,090 (GRCm39) |
missense |
probably benign |
0.00 |
R3815:Cfap90
|
UTSW |
13 |
68,759,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |