Incidental Mutation 'R5074:Cfap65'
ID 386781
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 042663-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R5074 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74922978 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 695 (S695T)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably benign
Transcript: ENSMUST00000094844
AA Change: S695T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: S695T

DomainStartEndE-ValueType
transmembrane domain 111 133 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
internal_repeat_1 745 890 9.31e-5 PROSPERO
internal_repeat_1 1167 1322 9.31e-5 PROSPERO
low complexity region 1350 1361 N/A INTRINSIC
low complexity region 1574 1592 N/A INTRINSIC
coiled coil region 1687 1724 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139950
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,416,833 (GRCm38) H143Q probably benign Het
Abca3 C T 17: 24,374,300 (GRCm38) R224C probably damaging Het
Adcy8 A T 15: 64,787,358 (GRCm38) W528R probably damaging Het
Agbl1 A G 7: 76,421,917 (GRCm38) E329G probably damaging Het
Agbl5 G A 5: 30,903,059 (GRCm38) R141Q probably damaging Het
Ampd2 A T 3: 108,079,233 (GRCm38) M245K probably damaging Het
Apob G A 12: 8,005,219 (GRCm38) probably null Het
Apool C T X: 112,349,843 (GRCm38) Q60* probably null Het
Aqp1 A T 6: 55,345,535 (GRCm38) I172F probably damaging Het
Atp7a A G X: 106,109,768 (GRCm38) D1092G probably benign Het
Ccdc83 A T 7: 90,250,529 (GRCm38) F45Y probably damaging Het
Cct8l1 G A 5: 25,516,883 (GRCm38) V199I probably benign Het
Cdc23 C A 18: 34,651,689 (GRCm38) V7L unknown Het
Cdc25a T A 9: 109,884,140 (GRCm38) C227S possibly damaging Het
Ces1a A G 8: 93,032,675 (GRCm38) S278P possibly damaging Het
Col13a1 A G 10: 61,874,018 (GRCm38) silent Het
Ctps1 A T 4: 120,553,973 (GRCm38) L282Q probably damaging Het
Cyp2a22 A T 7: 26,932,481 (GRCm38) F450Y probably benign Het
Cyp2d10 C T 15: 82,403,753 (GRCm38) R383H probably benign Het
Dennd3 G A 15: 73,547,295 (GRCm38) R645H probably damaging Het
Dnaaf5 G T 5: 139,174,207 (GRCm38) R620L probably damaging Het
Dnah11 A T 12: 118,082,453 (GRCm38) L1750* probably null Het
Dnah9 A G 11: 65,850,040 (GRCm38) F4107L probably damaging Het
Dnaja3 A T 16: 4,696,425 (GRCm38) T274S probably damaging Het
Dot1l A G 10: 80,784,646 (GRCm38) D514G possibly damaging Het
Dst A C 1: 34,295,263 (GRCm38) K4857N probably damaging Het
Dysf A T 6: 84,137,272 (GRCm38) K1226M probably damaging Het
Enpep T A 3: 129,303,755 (GRCm38) Q409L probably damaging Het
Fign A T 2: 63,979,693 (GRCm38) L411* probably null Het
Flt1 C A 5: 147,683,939 (GRCm38) A132S probably benign Het
Fryl G A 5: 73,074,767 (GRCm38) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,430,958 (GRCm38) probably benign Het
H2ab3 T C X: 120,312,846 (GRCm38) T84A probably damaging Het
Hal A T 10: 93,514,042 (GRCm38) I555F probably damaging Het
Hibadh C T 6: 52,620,094 (GRCm38) V122M possibly damaging Het
Hsd3b3 T C 3: 98,742,024 (GRCm38) T328A possibly damaging Het
Ifi44 T C 3: 151,749,632 (GRCm38) probably benign Het
Ifi47 A G 11: 49,095,534 (GRCm38) T43A probably benign Het
Inf2 A T 12: 112,612,039 (GRCm38) probably null Het
Itga10 C T 3: 96,652,211 (GRCm38) Q475* probably null Het
Itga6 T A 2: 71,826,435 (GRCm38) D344E probably benign Het
Kcnmb4 T C 10: 116,473,197 (GRCm38) T109A probably benign Het
Kif19a G A 11: 114,767,227 (GRCm38) M37I probably benign Het
Kiss1r C A 10: 79,918,762 (GRCm38) S30* probably null Het
Lrrc66 G A 5: 73,608,011 (GRCm38) P563L probably damaging Het
Mamdc2 T C 19: 23,378,796 (GRCm38) D96G probably benign Het
Map3k12 A T 15: 102,501,832 (GRCm38) probably null Het
Mc3r A T 2: 172,249,613 (GRCm38) I252F possibly damaging Het
Metrn C T 17: 25,796,639 (GRCm38) G34D probably damaging Het
Mipep A G 14: 60,809,013 (GRCm38) E328G probably benign Het
Mrtfa A G 15: 81,022,426 (GRCm38) V91A probably damaging Het
Muc5b A T 7: 141,859,262 (GRCm38) T1982S unknown Het
Myh8 A T 11: 67,305,916 (GRCm38) T1792S possibly damaging Het
Myo1a T C 10: 127,707,419 (GRCm38) probably null Het
Myo5a T A 9: 75,174,156 (GRCm38) S1008T probably benign Het
Ncald A T 15: 37,397,234 (GRCm38) H67Q probably damaging Het
Nudt5 T A 2: 5,864,387 (GRCm38) H141Q probably benign Het
Numbl G A 7: 27,280,990 (GRCm38) D466N probably damaging Het
Nup210 T A 6: 91,055,327 (GRCm38) I20F probably benign Het
Odad1 T A 7: 45,929,090 (GRCm38) M29K probably benign Het
Or10ak12 A C 4: 118,808,860 (GRCm38) W319G possibly damaging Het
Or10p21 T C 10: 129,011,344 (GRCm38) Y20H possibly damaging Het
Or14c46 A G 7: 86,269,591 (GRCm38) I66T probably damaging Het
Or51l14 A T 7: 103,451,410 (GRCm38) E24D probably benign Het
Or52e8b A T 7: 105,024,053 (GRCm38) M309K probably benign Het
Or52n2c A C 7: 104,925,493 (GRCm38) N90K probably benign Het
Or7h8 A T 9: 20,212,582 (GRCm38) I78F possibly damaging Het
Or8h10 A T 2: 86,978,322 (GRCm38) V158D possibly damaging Het
Papolg G A 11: 23,867,331 (GRCm38) T153I possibly damaging Het
Pappa A G 4: 65,205,128 (GRCm38) H900R probably benign Het
Pcdh17 T C 14: 84,533,342 (GRCm38) S1087P probably benign Het
Phf11a T G 14: 59,284,400 (GRCm38) L107F possibly damaging Het
Phlpp2 A T 8: 109,925,829 (GRCm38) I602F probably damaging Het
Pik3c2g T A 6: 139,720,147 (GRCm38) C65S probably null Het
Pilra A G 5: 137,835,412 (GRCm38) F131L probably damaging Het
Pomt2 A C 12: 87,133,460 (GRCm38) C256G probably damaging Het
Ppl A T 16: 5,088,878 (GRCm38) S1184R probably benign Het
Prkaa1 G T 15: 5,176,911 (GRCm38) R416L possibly damaging Het
Prkdc C A 16: 15,772,048 (GRCm38) R2592S probably damaging Het
Prmt2 C T 10: 76,222,556 (GRCm38) V140I probably damaging Het
Prodh A T 16: 18,077,789 (GRCm38) probably null Het
Psg29 T A 7: 17,211,838 (GRCm38) D444E probably damaging Het
Ptgs1 A T 2: 36,251,260 (GRCm38) N573I probably damaging Het
Rbm38 C T 2: 173,022,082 (GRCm38) P15S probably benign Het
Riox2 T C 16: 59,491,873 (GRCm38) S458P possibly damaging Het
Rnase4 T C 14: 51,105,245 (GRCm38) V142A possibly damaging Het
Rnf138 A G 18: 21,026,147 (GRCm38) N244S probably benign Het
Rnf40 T C 7: 127,597,286 (GRCm38) L802P probably damaging Het
Sfxn4 C T 19: 60,851,012 (GRCm38) V203M probably damaging Het
Skor2 G T 18: 76,858,954 (GRCm38) E124* probably null Het
Slc4a2 G A 5: 24,438,762 (GRCm38) S855N probably benign Het
Slc8a2 T C 7: 16,150,583 (GRCm38) L626P possibly damaging Het
Slco4c1 G A 1: 96,841,228 (GRCm38) P303L probably damaging Het
Slirp A G 12: 87,444,014 (GRCm38) T29A probably damaging Het
Snrpd3 G T 10: 75,519,393 (GRCm38) C20F possibly damaging Het
Spag17 T A 3: 100,080,118 (GRCm38) Y1575N possibly damaging Het
St8sia4 G A 1: 95,667,185 (GRCm38) A26V probably benign Het
Stab2 A T 10: 86,863,558 (GRCm38) I481N probably benign Het
Tenm2 T A 11: 36,068,381 (GRCm38) T1114S probably damaging Het
Tgm1 A G 14: 55,709,935 (GRCm38) V323A probably damaging Het
Tmco4 A G 4: 139,058,122 (GRCm38) H501R probably damaging Het
Tob1 A T 11: 94,213,741 (GRCm38) R34S possibly damaging Het
Trhr2 C T 8: 122,357,371 (GRCm38) V297I probably benign Het
Trim30d A C 7: 104,487,958 (GRCm38) V13G probably damaging Het
Trpm3 T C 19: 22,885,349 (GRCm38) V485A possibly damaging Het
Trrap T C 5: 144,851,179 (GRCm38) I3518T probably damaging Het
Ttc27 T C 17: 74,747,755 (GRCm38) L352P probably damaging Het
Ush1g A G 11: 115,318,297 (GRCm38) L357P possibly damaging Het
Usp24 A G 4: 106,420,447 (GRCm38) H2258R probably benign Het
Vcam1 A G 3: 116,124,388 (GRCm38) V308A probably damaging Het
Vdr A G 15: 97,857,578 (GRCm38) S355P probably benign Het
Vldlr T C 19: 27,238,277 (GRCm38) S184P probably damaging Het
Xpo4 C A 14: 57,584,641 (GRCm38) A1073S probably benign Het
Zfand2b A G 1: 75,170,990 (GRCm38) D224G probably benign Het
Zfp263 A G 16: 3,746,840 (GRCm38) R240G possibly damaging Het
Other mutations in Cfap65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Cfap65 APN 1 74,919,183 (GRCm38) critical splice donor site probably null
IGL01526:Cfap65 APN 1 74,911,078 (GRCm38) missense probably damaging 1.00
IGL01716:Cfap65 APN 1 74,927,194 (GRCm38) missense probably benign
IGL01780:Cfap65 APN 1 74,928,348 (GRCm38) nonsense probably null
IGL01993:Cfap65 APN 1 74,920,543 (GRCm38) missense probably damaging 1.00
IGL02164:Cfap65 APN 1 74,928,145 (GRCm38) missense possibly damaging 0.87
IGL02350:Cfap65 APN 1 74,928,348 (GRCm38) nonsense probably null
IGL02357:Cfap65 APN 1 74,928,348 (GRCm38) nonsense probably null
IGL02576:Cfap65 APN 1 74,903,458 (GRCm38) missense probably damaging 1.00
IGL02756:Cfap65 APN 1 74,905,080 (GRCm38) missense probably benign 0.00
IGL02792:Cfap65 APN 1 74,927,178 (GRCm38) missense probably damaging 1.00
IGL02874:Cfap65 APN 1 74,911,108 (GRCm38) nonsense probably null
IGL03101:Cfap65 APN 1 74,928,433 (GRCm38) missense possibly damaging 0.61
IGL03348:Cfap65 APN 1 74,927,619 (GRCm38) missense probably damaging 1.00
IGL03396:Cfap65 APN 1 74,904,642 (GRCm38) missense probably damaging 1.00
PIT4131001:Cfap65 UTSW 1 74,928,342 (GRCm38) missense probably benign 0.05
R0077:Cfap65 UTSW 1 74,931,918 (GRCm38) missense probably damaging 1.00
R0227:Cfap65 UTSW 1 74,931,958 (GRCm38) nonsense probably null
R0281:Cfap65 UTSW 1 74,927,071 (GRCm38) missense probably damaging 1.00
R0312:Cfap65 UTSW 1 74,904,067 (GRCm38) missense probably damaging 1.00
R0331:Cfap65 UTSW 1 74,929,302 (GRCm38) missense probably damaging 1.00
R0331:Cfap65 UTSW 1 74,929,301 (GRCm38) missense probably damaging 1.00
R0347:Cfap65 UTSW 1 74,926,444 (GRCm38) missense probably damaging 1.00
R0359:Cfap65 UTSW 1 74,920,601 (GRCm38) missense probably benign 0.00
R0361:Cfap65 UTSW 1 74,925,440 (GRCm38) missense probably damaging 1.00
R0465:Cfap65 UTSW 1 74,916,884 (GRCm38) missense possibly damaging 0.92
R0549:Cfap65 UTSW 1 74,918,444 (GRCm38) missense probably benign 0.01
R0646:Cfap65 UTSW 1 74,902,169 (GRCm38) missense probably benign 0.09
R0734:Cfap65 UTSW 1 74,918,887 (GRCm38) missense probably damaging 1.00
R0763:Cfap65 UTSW 1 74,904,682 (GRCm38) missense probably damaging 0.99
R0990:Cfap65 UTSW 1 74,921,519 (GRCm38) missense possibly damaging 0.60
R1079:Cfap65 UTSW 1 74,905,713 (GRCm38) missense probably damaging 0.99
R1079:Cfap65 UTSW 1 74,902,447 (GRCm38) missense probably damaging 0.98
R1083:Cfap65 UTSW 1 74,918,504 (GRCm38) splice site probably benign
R1159:Cfap65 UTSW 1 74,929,340 (GRCm38) missense probably damaging 1.00
R1282:Cfap65 UTSW 1 74,925,104 (GRCm38) missense probably benign 0.03
R1644:Cfap65 UTSW 1 74,917,175 (GRCm38) missense probably damaging 1.00
R1796:Cfap65 UTSW 1 74,918,948 (GRCm38) missense probably damaging 1.00
R1950:Cfap65 UTSW 1 74,907,660 (GRCm38) missense probably damaging 1.00
R2079:Cfap65 UTSW 1 74,917,199 (GRCm38) missense probably benign 0.30
R2132:Cfap65 UTSW 1 74,907,691 (GRCm38) missense probably damaging 1.00
R2136:Cfap65 UTSW 1 74,917,273 (GRCm38) frame shift probably null
R2219:Cfap65 UTSW 1 74,904,025 (GRCm38) missense probably damaging 1.00
R2220:Cfap65 UTSW 1 74,904,025 (GRCm38) missense probably damaging 1.00
R2291:Cfap65 UTSW 1 74,926,475 (GRCm38) missense probably damaging 1.00
R2417:Cfap65 UTSW 1 74,927,186 (GRCm38) small insertion probably benign
R3114:Cfap65 UTSW 1 74,927,132 (GRCm38) missense probably damaging 1.00
R4202:Cfap65 UTSW 1 74,920,542 (GRCm38) missense probably damaging 1.00
R4214:Cfap65 UTSW 1 74,927,681 (GRCm38) missense possibly damaging 0.93
R4254:Cfap65 UTSW 1 74,903,358 (GRCm38) missense probably benign 0.17
R4547:Cfap65 UTSW 1 74,907,612 (GRCm38) missense probably damaging 1.00
R4548:Cfap65 UTSW 1 74,907,612 (GRCm38) missense probably damaging 1.00
R4588:Cfap65 UTSW 1 74,904,056 (GRCm38) missense possibly damaging 0.92
R4657:Cfap65 UTSW 1 74,925,354 (GRCm38) intron probably benign
R4701:Cfap65 UTSW 1 74,918,908 (GRCm38) missense probably damaging 0.96
R4755:Cfap65 UTSW 1 74,928,361 (GRCm38) missense probably damaging 1.00
R4820:Cfap65 UTSW 1 74,927,632 (GRCm38) missense probably benign 0.06
R4831:Cfap65 UTSW 1 74,917,295 (GRCm38) missense possibly damaging 0.93
R4866:Cfap65 UTSW 1 74,925,557 (GRCm38) missense probably damaging 1.00
R4869:Cfap65 UTSW 1 74,919,261 (GRCm38) missense probably benign 0.00
R4881:Cfap65 UTSW 1 74,907,613 (GRCm38) missense probably damaging 1.00
R4884:Cfap65 UTSW 1 74,903,124 (GRCm38) missense possibly damaging 0.47
R4950:Cfap65 UTSW 1 74,906,336 (GRCm38) nonsense probably null
R5083:Cfap65 UTSW 1 74,906,441 (GRCm38) missense probably damaging 1.00
R5164:Cfap65 UTSW 1 74,926,516 (GRCm38) missense probably damaging 1.00
R5268:Cfap65 UTSW 1 74,924,902 (GRCm38) missense probably benign 0.07
R5333:Cfap65 UTSW 1 74,903,175 (GRCm38) missense probably benign 0.03
R5417:Cfap65 UTSW 1 74,925,100 (GRCm38) missense probably damaging 1.00
R5582:Cfap65 UTSW 1 74,907,518 (GRCm38) intron probably benign
R5669:Cfap65 UTSW 1 74,924,968 (GRCm38) missense probably damaging 0.99
R6010:Cfap65 UTSW 1 74,923,031 (GRCm38) missense probably damaging 1.00
R6084:Cfap65 UTSW 1 74,920,405 (GRCm38) missense probably damaging 1.00
R6112:Cfap65 UTSW 1 74,903,139 (GRCm38) missense probably benign 0.14
R6425:Cfap65 UTSW 1 74,927,709 (GRCm38) missense probably benign 0.00
R6677:Cfap65 UTSW 1 74,904,685 (GRCm38) missense probably damaging 1.00
R6693:Cfap65 UTSW 1 74,917,286 (GRCm38) missense probably benign 0.00
R6838:Cfap65 UTSW 1 74,932,021 (GRCm38) missense probably benign 0.06
R6861:Cfap65 UTSW 1 74,925,115 (GRCm38) missense probably damaging 1.00
R6958:Cfap65 UTSW 1 74,931,899 (GRCm38) missense possibly damaging 0.58
R7134:Cfap65 UTSW 1 74,926,633 (GRCm38) missense probably benign 0.01
R7320:Cfap65 UTSW 1 74,926,604 (GRCm38) missense probably damaging 0.99
R7340:Cfap65 UTSW 1 74,921,583 (GRCm38) missense probably benign 0.07
R7426:Cfap65 UTSW 1 74,920,426 (GRCm38) missense possibly damaging 0.92
R7529:Cfap65 UTSW 1 74,926,610 (GRCm38) missense probably damaging 1.00
R7634:Cfap65 UTSW 1 74,902,434 (GRCm38) missense probably damaging 1.00
R7654:Cfap65 UTSW 1 74,933,144 (GRCm38) missense probably benign 0.44
R7704:Cfap65 UTSW 1 74,928,368 (GRCm38) missense probably benign 0.19
R7727:Cfap65 UTSW 1 74,926,625 (GRCm38) missense probably benign 0.00
R7895:Cfap65 UTSW 1 74,933,162 (GRCm38) missense probably benign 0.05
R8215:Cfap65 UTSW 1 74,910,743 (GRCm38) missense probably damaging 1.00
R8344:Cfap65 UTSW 1 74,928,044 (GRCm38) missense probably benign 0.01
R8345:Cfap65 UTSW 1 74,928,044 (GRCm38) missense probably benign 0.01
R8413:Cfap65 UTSW 1 74,917,169 (GRCm38) nonsense probably null
R8431:Cfap65 UTSW 1 74,928,044 (GRCm38) missense probably benign 0.01
R8432:Cfap65 UTSW 1 74,928,044 (GRCm38) missense probably benign 0.01
R8528:Cfap65 UTSW 1 74,905,937 (GRCm38) missense possibly damaging 0.88
R8809:Cfap65 UTSW 1 74,903,223 (GRCm38) missense probably benign 0.43
R8996:Cfap65 UTSW 1 74,902,188 (GRCm38) missense probably benign 0.11
R9020:Cfap65 UTSW 1 74,920,393 (GRCm38) missense probably damaging 1.00
R9043:Cfap65 UTSW 1 74,904,688 (GRCm38) missense possibly damaging 0.88
R9127:Cfap65 UTSW 1 74,919,351 (GRCm38) splice site probably benign
R9187:Cfap65 UTSW 1 74,917,358 (GRCm38) missense probably benign 0.00
R9210:Cfap65 UTSW 1 74,920,408 (GRCm38) missense probably benign
R9212:Cfap65 UTSW 1 74,920,408 (GRCm38) missense probably benign
R9273:Cfap65 UTSW 1 74,921,610 (GRCm38) missense probably benign 0.00
R9454:Cfap65 UTSW 1 74,905,051 (GRCm38) missense probably damaging 1.00
R9514:Cfap65 UTSW 1 74,906,309 (GRCm38) critical splice donor site probably null
R9595:Cfap65 UTSW 1 74,907,378 (GRCm38) missense probably damaging 1.00
R9721:Cfap65 UTSW 1 74,919,342 (GRCm38) missense probably benign 0.16
R9742:Cfap65 UTSW 1 74,904,681 (GRCm38) missense probably benign 0.08
RF009:Cfap65 UTSW 1 74,905,647 (GRCm38) missense probably damaging 1.00
Z1176:Cfap65 UTSW 1 74,910,747 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGGAGACACATGATCCAC -3'
(R):5'- TAGGATACCTCCAGCACAGG -3'

Sequencing Primer
(F):5'- TGGCCTAAATCCCCAGGATG -3'
(R):5'- GCACAGGGCTAGGGAGG -3'
Posted On 2016-06-06