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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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