Incidental Mutation 'R0568:Cfap410'
ID 46269
Institutional Source Beutler Lab
Gene Symbol Cfap410
Ensembl Gene ENSMUSG00000020284
Gene Name cilia and flagella associated protein 410
Synonyms 1810043G02Rik, D10Jhu13e
MMRRC Submission 038759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0568 (G1)
Quality Score 172
Status Validated
Chromosome 10
Chromosomal Location 77814364-77821272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77818872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 181 (T181I)
Ref Sequence ENSEMBL: ENSMUSP00000101037 (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 possibly damaging
Transcript: ENSMUST00000105397
AA Change: T181I

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101036
Gene: ENSMUSG00000020284
AA Change: T181I

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 possibly damaging
Transcript: ENSMUST00000105398
AA Change: T181I

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101037
Gene: ENSMUSG00000020284
AA Change: T181I

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: ENSMUST00000149074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136275
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 100% (38/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G A 4: 49,451,003 (GRCm39) T36I possibly damaging Het
Adamts20 T C 15: 94,189,594 (GRCm39) probably benign Het
Adamtsl1 T C 4: 86,336,789 (GRCm39) L1558S probably damaging Het
Ap3b2 A G 7: 81,114,377 (GRCm39) probably null Het
Bag2 T C 1: 33,786,059 (GRCm39) M88V probably benign Het
Brms1l A G 12: 55,908,173 (GRCm39) probably null Het
C8b A G 4: 104,650,577 (GRCm39) I462V probably benign Het
Cnpy4 A G 5: 138,190,839 (GRCm39) E167G probably damaging Het
Copa T C 1: 171,939,704 (GRCm39) V624A possibly damaging Het
Gm4553 G T 7: 141,719,357 (GRCm39) P24T unknown Het
Gna12 A G 5: 140,746,638 (GRCm39) V269A possibly damaging Het
Gtf2ird2 G T 5: 134,240,083 (GRCm39) E302* probably null Het
Hmcn2 C A 2: 31,305,248 (GRCm39) S3140R probably benign Het
Hspa4 A G 11: 53,153,703 (GRCm39) probably benign Het
Hspbp1 A T 7: 4,687,431 (GRCm39) L60* probably null Het
Lats1 A T 10: 7,588,292 (GRCm39) I970F possibly damaging Het
Lipo3 T C 19: 33,559,442 (GRCm39) probably benign Het
Lrrc3 T A 10: 77,737,419 (GRCm39) R6W probably damaging Het
Lxn C T 3: 67,368,335 (GRCm39) A143T probably damaging Het
Mga T C 2: 119,765,903 (GRCm39) I1390T probably damaging Het
Ncapg2 T A 12: 116,386,835 (GRCm39) I286N probably damaging Het
Or4c107 T A 2: 88,789,387 (GRCm39) Y192* probably null Het
Pitpnm2 A G 5: 124,278,580 (GRCm39) probably benign Het
Plxna2 T C 1: 194,433,694 (GRCm39) V581A probably benign Het
Polr3d A T 14: 70,676,959 (GRCm39) H378Q possibly damaging Het
Ptpn13 T C 5: 103,637,631 (GRCm39) V173A probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syngr3 C T 17: 24,905,555 (GRCm39) A140T probably benign Het
Tent2 A G 13: 93,291,500 (GRCm39) S381P probably benign Het
Tprn T C 2: 25,154,333 (GRCm39) V545A probably damaging Het
Trim66 T C 7: 109,059,902 (GRCm39) H828R probably benign Het
Ugt2b5 G A 5: 87,285,224 (GRCm39) probably benign Het
Vps9d1 A G 8: 123,973,487 (GRCm39) V432A probably damaging Het
Zswim9 A T 7: 12,994,952 (GRCm39) D401E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTCCACAAGCTGTGACCGAGGAAG -3'
(R):5'- TCTCAGGAAAGGCCCAGAAGTGAC -3'

Sequencing Primer
(F):5'- AGGAAGAGCTGACCCGC -3'
(R):5'- AGACAGGTTCTTGAGGTCAC -3'
Posted On 2013-06-11