Incidental Mutation 'R7134:Cfap65'
ID 552877
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 045219-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R7134 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74926633 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 406 (R406Q)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably benign
Transcript: ENSMUST00000094844
AA Change: R406Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: R406Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (84/85)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,959,252 (GRCm38) F638S possibly damaging Het
Actl6b T A 5: 137,564,500 (GRCm38) N159K probably damaging Het
Adam6a T G 12: 113,545,035 (GRCm38) S343A probably benign Het
Ankrd17 T C 5: 90,285,523 (GRCm38) T728A probably benign Het
Ankrd17 G A 5: 90,232,314 (GRCm38) T2505I probably damaging Het
Asap2 G T 12: 21,265,963 (GRCm38) E919* probably null Het
Atp10b A T 11: 43,245,464 (GRCm38) I1140F probably damaging Het
Cep126 A T 9: 8,103,382 (GRCm38) V209E probably damaging Het
Cldn1 T C 16: 26,371,626 (GRCm38) M1V probably null Het
Cryl1 C T 14: 57,275,499 (GRCm38) D304N probably benign Het
D3Ertd751e T C 3: 41,753,777 (GRCm38) probably null Het
D630044L22Rik A T 17: 25,962,116 (GRCm38) M156L probably benign Het
Ddx21 T C 10: 62,591,855 (GRCm38) D423G possibly damaging Het
Dock2 T A 11: 34,310,363 (GRCm38) M993L probably benign Het
Dusp29 A T 14: 21,677,061 (GRCm38) I173N probably damaging Het
Eif4g1 C T 16: 20,681,502 (GRCm38) A675V probably damaging Het
Eml1 C T 12: 108,506,551 (GRCm38) S206L probably benign Het
Farp2 A C 1: 93,603,459 (GRCm38) I560L probably benign Het
Fbn1 A T 2: 125,382,049 (GRCm38) D593E probably benign Het
Fetub A G 16: 22,929,257 (GRCm38) D61G possibly damaging Het
Fpgs T C 2: 32,686,629 (GRCm38) K329E probably benign Het
Fpgt T C 3: 155,091,483 (GRCm38) Y45C probably damaging Het
Gas2l1 A T 11: 5,061,106 (GRCm38) C574* probably null Het
Gm9747 G T 1: 82,234,116 (GRCm38) C12F unknown Het
H2-T23 T C 17: 36,031,817 (GRCm38) Y143C probably damaging Het
Hhip A T 8: 79,992,513 (GRCm38) S462T probably benign Het
Hnf1a C T 5: 114,953,387 (GRCm38) G416R probably damaging Het
Hoxa5 C T 6: 52,204,043 (GRCm38) C103Y probably damaging Het
Kansl3 G T 1: 36,351,767 (GRCm38) D395E possibly damaging Het
Marchf10 A G 11: 105,408,676 (GRCm38) S116P probably benign Het
Med12l C T 3: 59,093,759 (GRCm38) Q748* probably null Het
Mroh7 T A 4: 106,720,594 (GRCm38) N296Y probably damaging Het
Mtbp T G 15: 55,558,565 (GRCm38) D61E probably benign Het
Muc5b A T 7: 141,857,654 (GRCm38) I1446L unknown Het
Myh15 T C 16: 49,081,342 (GRCm38) V266A possibly damaging Het
Nap1l1 G A 10: 111,494,794 (GRCm38) probably null Het
Napsa A G 7: 44,585,735 (GRCm38) T315A probably benign Het
Nlrc5 A T 8: 94,479,722 (GRCm38) I734F probably damaging Het
Nnt A G 13: 119,394,662 (GRCm38) V183A probably damaging Het
Nploc4 A T 11: 120,385,788 (GRCm38) D477E probably benign Het
Nrip3 A G 7: 109,765,488 (GRCm38) S144P probably damaging Het
Ntng1 A T 3: 109,935,129 (GRCm38) F109L probably benign Het
Or5p61 A G 7: 108,159,676 (GRCm38) Y66H probably damaging Het
Or5v1 T A 17: 37,498,885 (GRCm38) V78D probably damaging Het
Or6aa1 G A 7: 86,395,544 (GRCm38) probably benign Het
Or8b36 A G 9: 38,026,499 (GRCm38) E231G probably benign Het
Pacsin1 G A 17: 27,702,733 (GRCm38) D30N probably damaging Het
Pbld2 A T 10: 63,024,589 (GRCm38) probably benign Het
Pcnx4 C T 12: 72,566,976 (GRCm38) T565I probably damaging Het
Pdzk1 A T 3: 96,855,930 (GRCm38) T225S probably benign Het
Phyhip T G 14: 70,467,199 (GRCm38) I286S probably benign Het
Pkd1 T A 17: 24,594,112 (GRCm38) Y3903N probably damaging Het
Plcb3 A T 19: 6,965,330 (GRCm38) L222Q probably damaging Het
Plcd4 T A 1: 74,554,503 (GRCm38) H262Q probably benign Het
Plekhh1 C T 12: 79,062,616 (GRCm38) A474V probably benign Het
Plppr3 T C 10: 79,865,703 (GRCm38) E435G probably damaging Het
Poln T A 5: 34,118,996 (GRCm38) N305I possibly damaging Het
Pou3f2 T C 4: 22,486,874 (GRCm38) T420A probably benign Het
Ppdpf T C 2: 181,187,730 (GRCm38) Y17H probably damaging Het
Prrx2 C A 2: 30,878,473 (GRCm38) T104K probably damaging Het
Ptprj A T 2: 90,464,478 (GRCm38) L462H probably benign Het
Radil T C 5: 142,485,549 (GRCm38) T991A probably damaging Het
Rbsn T C 6: 92,201,627 (GRCm38) E147G probably damaging Het
Ror2 C T 13: 53,146,706 (GRCm38) V35M probably benign Het
Rps6ka1 T C 4: 133,872,062 (GRCm38) Q18R probably benign Het
Setbp1 T A 18: 78,859,519 (GRCm38) D311V possibly damaging Het
Setd2 C T 9: 110,548,797 (GRCm38) S560L possibly damaging Het
Slc12a5 A T 2: 164,974,958 (GRCm38) I134F probably damaging Het
Speer1h C T 5: 11,597,739 (GRCm38) T148I possibly damaging Het
Svil A G 18: 5,116,080 (GRCm38) D2035G probably damaging Het
Syngap1 T C 17: 26,960,011 (GRCm38) Y665H probably damaging Het
Tbc1d9b T C 11: 50,152,692 (GRCm38) Y547H possibly damaging Het
Tgm2 A G 2: 158,138,892 (GRCm38) V83A probably benign Het
Tmem233 T C 5: 116,051,370 (GRCm38) I117V probably benign Het
Tsen34 A G 7: 3,700,641 (GRCm38) T293A probably damaging Het
Ttn A G 2: 76,878,679 (GRCm38) V8752A unknown Het
Ubac1 A G 2: 26,014,962 (GRCm38) V88A probably benign Het
Uchl4 T C 9: 64,235,339 (GRCm38) V34A probably damaging Het
Ugt2a2 C T 5: 87,460,576 (GRCm38) R468H probably benign Het
Vmn2r102 A T 17: 19,677,487 (GRCm38) T255S probably benign Het
Wdr6 T A 9: 108,573,365 (GRCm38) N988I probably damaging Het
Wnk1 A T 6: 119,926,428 (GRCm38) I2359N unknown Het
Ybey A G 10: 76,468,191 (GRCm38) V59A probably benign Het
Zfp268 T A 4: 145,622,805 (GRCm38) C271S possibly damaging Het
Zfp397 A G 18: 23,957,065 (GRCm38) N142S probably benign Het
Zfy1 A T Y: 725,788 (GRCm38) V659E probably 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
R5074:Cfap65 UTSW 1 74,922,978 (GRCm38) missense probably benign 0.04
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
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'- TCACCTGGTGATGGATGAGAC -3'
(R):5'- TGAGTTTTGCAGGGCTCCAG -3'

Sequencing Primer
(F):5'- CACCCTCCGGAAACTGATGATAGG -3'
(R):5'- AAGGGCAAGGATCTCTCA -3'
Posted On 2019-05-15