Incidental Mutation 'IGL02671:Cfap410'
ID 302942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap410
Ensembl Gene ENSMUSG00000020284
Gene Name cilia and flagella associated protein 410
Synonyms 1810043G02Rik, D10Jhu13e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02671
Quality Score
Status
Chromosome 10
Chromosomal Location 77814364-77821272 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 77816384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105397] [ENSMUST00000105398]
AlphaFold Q8C6G1
Predicted Effect probably benign
Transcript: ENSMUST00000105397
SMART Domains Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
low complexity region 210 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105398
SMART Domains Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136275
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,050,887 (GRCm39) H60Q probably benign Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Angpt1 C T 15: 42,539,790 (GRCm39) R23H possibly damaging Het
Cadps T A 14: 12,491,824 (GRCm38) E775D probably damaging Het
Cdc42bpa T A 1: 179,889,387 (GRCm39) M211K probably benign Het
Clec16a A G 16: 10,445,245 (GRCm39) M77V probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp27b1 G T 10: 126,886,912 (GRCm39) probably null Het
Eef1d A G 15: 75,767,654 (GRCm39) I240T probably damaging Het
Fras1 T A 5: 96,876,475 (GRCm39) F2403I possibly damaging Het
Ighv1-47 C T 12: 114,955,018 (GRCm39) V21I possibly damaging Het
Kank1 T C 19: 25,405,459 (GRCm39) L1159P probably damaging Het
Kif12 T C 4: 63,088,694 (GRCm39) E202G probably benign Het
Kif17 A G 4: 138,015,372 (GRCm39) D315G possibly damaging Het
Mcam T C 9: 44,048,331 (GRCm39) probably benign Het
Mpdz A T 4: 81,208,510 (GRCm39) D1778E probably damaging Het
Numbl C T 7: 26,964,327 (GRCm39) R46W probably damaging Het
Or1af1 A T 2: 37,110,257 (GRCm39) Y252F probably damaging Het
Or6d13 C T 6: 116,518,104 (GRCm39) T230I possibly damaging Het
Pde3b T C 7: 114,122,580 (GRCm39) V716A possibly damaging Het
Plcg1 T A 2: 160,597,672 (GRCm39) Y771* probably null Het
Pramel5 A G 4: 143,999,682 (GRCm39) V135A probably benign Het
Slu7 A G 11: 43,336,302 (GRCm39) probably null Het
Taf2 C T 15: 54,897,572 (GRCm39) V919I probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tlr11 A T 14: 50,598,149 (GRCm39) D45V probably damaging Het
Tmem132b A G 5: 125,855,791 (GRCm39) T508A probably damaging Het
Trf C T 9: 103,089,181 (GRCm39) E569K probably benign Het
Trim24 T C 6: 37,937,719 (GRCm39) C875R probably damaging Het
Usf3 A G 16: 44,042,144 (GRCm39) N2208S probably damaging Het
Usp14 A G 18: 9,997,196 (GRCm39) V436A probably damaging Het
Vwa5b1 G A 4: 138,296,437 (GRCm39) R1197* probably null Het
Other mutations in Cfap410
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Cfap410 APN 10 77,818,784 (GRCm39) missense possibly damaging 0.62
IGL02376:Cfap410 APN 10 77,820,388 (GRCm39) intron probably benign
R0145:Cfap410 UTSW 10 77,819,390 (GRCm39) missense probably benign 0.04
R0347:Cfap410 UTSW 10 77,820,256 (GRCm39) missense probably damaging 0.96
R0568:Cfap410 UTSW 10 77,820,381 (GRCm39) makesense probably null
R0568:Cfap410 UTSW 10 77,818,872 (GRCm39) missense possibly damaging 0.48
R1778:Cfap410 UTSW 10 77,818,778 (GRCm39) missense probably benign 0.00
R2279:Cfap410 UTSW 10 77,817,476 (GRCm39) missense probably damaging 1.00
R2939:Cfap410 UTSW 10 77,817,507 (GRCm39) missense probably benign 0.00
R4656:Cfap410 UTSW 10 77,817,450 (GRCm39) missense probably benign 0.01
R4866:Cfap410 UTSW 10 77,817,413 (GRCm39) splice site probably null
R6539:Cfap410 UTSW 10 77,820,322 (GRCm39) missense probably benign 0.07
R7016:Cfap410 UTSW 10 77,818,790 (GRCm39) missense probably benign
R7950:Cfap410 UTSW 10 77,815,601 (GRCm39) missense probably damaging 1.00
R8168:Cfap410 UTSW 10 77,818,778 (GRCm39) missense probably benign
Posted On 2015-04-16