Incidental Mutation 'R8168:Cfap410'
ID 633911
Institutional Source Beutler Lab
Gene Symbol Cfap410
Ensembl Gene ENSMUSG00000020284
Gene Name cilia and flagella associated protein 410
Synonyms 1810043G02Rik, D10Jhu13e
MMRRC Submission 067594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8168 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 77814364-77821272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77818778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 150 (A150T)
Ref Sequence ENSEMBL: ENSMUSP00000101036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020522] [ENSMUST00000105397] [ENSMUST00000105398]
AlphaFold Q8C6G1
Predicted Effect probably benign
Transcript: ENSMUST00000020522
SMART Domains Protein: ENSMUSP00000020522
Gene: ENSMUSG00000020277

DomainStartEndE-ValueType
Pfam:PFK 17 324 4.7e-109 PFAM
Pfam:PFK 401 686 1.9e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105397
AA Change: A150T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284
AA Change: A150T

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
AA Change: A150T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284
AA Change: A150T

DomainStartEndE-ValueType
LRRcap 104 122 3.42e-2 SMART
low complexity region 178 191 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (44/44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,816,857 (GRCm39) I652T probably damaging Het
Arhgef1 A G 7: 24,624,831 (GRCm39) T862A probably benign Het
Atp6v1b2 T C 8: 69,560,983 (GRCm39) S404P possibly damaging Het
Catsperz A G 19: 6,900,020 (GRCm39) S162P possibly damaging Het
Cfap54 A T 10: 92,744,739 (GRCm39) S2170T unknown Het
Copa A T 1: 171,927,239 (GRCm39) H204L probably damaging Het
Cwc22 A C 2: 77,757,615 (GRCm39) V171G probably damaging Het
Dock5 A T 14: 68,007,646 (GRCm39) probably null Het
Flrt1 G A 19: 7,074,002 (GRCm39) L182F probably damaging Het
Foxf1 T C 8: 121,811,901 (GRCm39) V255A probably damaging Het
Gnptab G T 10: 88,254,995 (GRCm39) A194S probably benign Het
Gzf1 C T 2: 148,526,686 (GRCm39) R386C probably damaging Het
H2-Aa T A 17: 34,506,695 (GRCm39) T16S possibly damaging Het
Hdgfl2 T C 17: 56,389,282 (GRCm39) F52S probably damaging Het
Htt A G 5: 35,040,300 (GRCm39) N2154S probably benign Het
Ifi207 A C 1: 173,557,504 (GRCm39) S411R probably benign Het
Jcad A T 18: 4,675,094 (GRCm39) D952V probably benign Het
Lama3 T A 18: 12,639,999 (GRCm39) W65R probably null Het
Mef2c G T 13: 83,804,469 (GRCm39) L356F probably damaging Het
Mrgprb2 A T 7: 48,201,767 (GRCm39) S319R probably benign Het
Mtrr C T 13: 68,720,732 (GRCm39) V288I probably benign Het
Myo18a T A 11: 77,711,968 (GRCm39) I713N probably damaging Het
Nelfa A T 5: 34,079,251 (GRCm39) N107K possibly damaging Het
Nim1k A T 13: 120,174,288 (GRCm39) V202D probably damaging Het
Nlrc4 T C 17: 74,752,206 (GRCm39) T726A probably benign Het
Or4p8 T A 2: 88,727,120 (GRCm39) M274L probably benign Het
Or9m1 T A 2: 87,733,543 (GRCm39) H159L probably damaging Het
Phaf1 C T 8: 105,975,401 (GRCm39) P330L probably benign Het
Prdm10 G A 9: 31,258,263 (GRCm39) A514T probably benign Het
Prg4 T A 1: 150,331,601 (GRCm39) E357D unknown Het
Ptp4a3 T G 15: 73,628,695 (GRCm39) Y152D probably damaging Het
Raph1 A G 1: 60,538,779 (GRCm39) C389R unknown Het
Rcc1 T C 4: 132,063,096 (GRCm39) E170G probably benign Het
Spag17 C T 3: 99,942,300 (GRCm39) T775M possibly damaging Het
Srcap T A 7: 127,141,695 (GRCm39) V1825D probably damaging Het
Tshr T A 12: 91,478,739 (GRCm39) H195Q probably benign Het
Vmn1r174 A T 7: 23,454,096 (GRCm39) D254V probably damaging Het
Vps13a A C 19: 16,726,912 (GRCm39) I244M probably benign 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
IGL02671:Cfap410 APN 10 77,816,384 (GRCm39) splice site 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
Predicted Primers PCR Primer
(F):5'- TTGGAAAGAGCAGGACTAACTGTC -3'
(R):5'- TGCACAGACAGGTTCTTGAGG -3'

Sequencing Primer
(F):5'- ACTAACTGTCCCCAGGGG -3'
(R):5'- TCAGTTGCAGAGCTGAC -3'
Posted On 2020-07-13