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: 0.677) question?
Stock # R7134 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74941230-74974758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74965792 bp (GRCm39)
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: 36,270,144 (GRCm39) F638S possibly damaging Het
Actl6b T A 5: 137,562,762 (GRCm39) N159K probably damaging Het
Adam6a T G 12: 113,508,655 (GRCm39) S343A probably benign Het
Ankrd17 G A 5: 90,380,173 (GRCm39) T2505I probably damaging Het
Ankrd17 T C 5: 90,433,382 (GRCm39) T728A probably benign Het
Asap2 G T 12: 21,315,964 (GRCm39) E919* probably null Het
Atp10b A T 11: 43,136,291 (GRCm39) I1140F probably damaging Het
Cep126 A T 9: 8,103,383 (GRCm39) V209E probably damaging Het
Cldn1 T C 16: 26,190,376 (GRCm39) M1V probably null Het
Cryl1 C T 14: 57,512,956 (GRCm39) D304N probably benign Het
D3Ertd751e T C 3: 41,708,212 (GRCm39) probably null Het
D630044L22Rik A T 17: 26,181,090 (GRCm39) M156L probably benign Het
Ddx21 T C 10: 62,427,634 (GRCm39) D423G possibly damaging Het
Dock2 T A 11: 34,260,363 (GRCm39) M993L probably benign Het
Dusp29 A T 14: 21,727,129 (GRCm39) I173N probably damaging Het
Eif4g1 C T 16: 20,500,252 (GRCm39) A675V probably damaging Het
Eml1 C T 12: 108,472,810 (GRCm39) S206L probably benign Het
Farp2 A C 1: 93,531,181 (GRCm39) I560L probably benign Het
Fbn1 A T 2: 125,223,969 (GRCm39) D593E probably benign Het
Fetub A G 16: 22,748,007 (GRCm39) D61G possibly damaging Het
Fpgs T C 2: 32,576,641 (GRCm39) K329E probably benign Het
Fpgt T C 3: 154,797,120 (GRCm39) Y45C probably damaging Het
Gas2l1 A T 11: 5,011,106 (GRCm39) C574* probably null Het
Gm9747 G T 1: 82,211,837 (GRCm39) C12F unknown Het
H2-T23 T C 17: 36,342,709 (GRCm39) Y143C probably damaging Het
Hhip A T 8: 80,719,142 (GRCm39) S462T probably benign Het
Hnf1a C T 5: 115,091,446 (GRCm39) G416R probably damaging Het
Hoxa5 C T 6: 52,181,023 (GRCm39) C103Y probably damaging Het
Kansl3 G T 1: 36,390,848 (GRCm39) D395E possibly damaging Het
Marchf10 A G 11: 105,299,502 (GRCm39) S116P probably benign Het
Med12l C T 3: 59,001,180 (GRCm39) Q748* probably null Het
Mroh7 T A 4: 106,577,791 (GRCm39) N296Y probably damaging Het
Mtbp T G 15: 55,421,961 (GRCm39) D61E probably benign Het
Muc5b A T 7: 141,411,391 (GRCm39) I1446L unknown Het
Myh15 T C 16: 48,901,705 (GRCm39) V266A possibly damaging Het
Nap1l1 G A 10: 111,330,655 (GRCm39) probably null Het
Napsa A G 7: 44,235,159 (GRCm39) T315A probably benign Het
Nlrc5 A T 8: 95,206,350 (GRCm39) I734F probably damaging Het
Nnt A G 13: 119,531,198 (GRCm39) V183A probably damaging Het
Nploc4 A T 11: 120,276,614 (GRCm39) D477E probably benign Het
Nrip3 A G 7: 109,364,695 (GRCm39) S144P probably damaging Het
Ntng1 A T 3: 109,842,445 (GRCm39) F109L probably benign Het
Or5p61 A G 7: 107,758,883 (GRCm39) Y66H probably damaging Het
Or5v1 T A 17: 37,809,776 (GRCm39) V78D probably damaging Het
Or6aa1 G A 7: 86,044,752 (GRCm39) probably benign Het
Or8b36 A G 9: 37,937,795 (GRCm39) E231G probably benign Het
Pacsin1 G A 17: 27,921,707 (GRCm39) D30N probably damaging Het
Pbld2 A T 10: 62,860,368 (GRCm39) probably benign Het
Pcnx4 C T 12: 72,613,750 (GRCm39) T565I probably damaging Het
Pdzk1 A T 3: 96,763,246 (GRCm39) T225S probably benign Het
Phyhip T G 14: 70,704,639 (GRCm39) I286S probably benign Het
Pkd1 T A 17: 24,813,086 (GRCm39) Y3903N probably damaging Het
Plcb3 A T 19: 6,942,698 (GRCm39) L222Q probably damaging Het
Plcd4 T A 1: 74,593,662 (GRCm39) H262Q probably benign Het
Plekhh1 C T 12: 79,109,390 (GRCm39) A474V probably benign Het
Plppr3 T C 10: 79,701,537 (GRCm39) E435G probably damaging Het
Poln T A 5: 34,276,340 (GRCm39) N305I possibly damaging Het
Pou3f2 T C 4: 22,486,874 (GRCm39) T420A probably benign Het
Ppdpf T C 2: 180,829,523 (GRCm39) Y17H probably damaging Het
Prrx2 C A 2: 30,768,485 (GRCm39) T104K probably damaging Het
Ptprj A T 2: 90,294,822 (GRCm39) L462H probably benign Het
Radil T C 5: 142,471,304 (GRCm39) T991A probably damaging Het
Rbsn T C 6: 92,178,608 (GRCm39) E147G probably damaging Het
Ror2 C T 13: 53,300,742 (GRCm39) V35M probably benign Het
Rps6ka1 T C 4: 133,599,373 (GRCm39) Q18R probably benign Het
Setbp1 T A 18: 78,902,734 (GRCm39) D311V possibly damaging Het
Setd2 C T 9: 110,377,865 (GRCm39) S560L possibly damaging Het
Slc12a5 A T 2: 164,816,878 (GRCm39) I134F probably damaging Het
Speer1h C T 5: 11,647,706 (GRCm39) T148I possibly damaging Het
Svil A G 18: 5,116,080 (GRCm39) D2035G probably damaging Het
Syngap1 T C 17: 27,178,985 (GRCm39) Y665H probably damaging Het
Tbc1d9b T C 11: 50,043,519 (GRCm39) Y547H possibly damaging Het
Tgm2 A G 2: 157,980,812 (GRCm39) V83A probably benign Het
Tmem233 T C 5: 116,189,429 (GRCm39) I117V probably benign Het
Tsen34 A G 7: 3,703,640 (GRCm39) T293A probably damaging Het
Ttn A G 2: 76,709,023 (GRCm39) V8752A unknown Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Uchl4 T C 9: 64,142,621 (GRCm39) V34A probably damaging Het
Ugt2a2 C T 5: 87,608,435 (GRCm39) R468H probably benign Het
Vmn2r102 A T 17: 19,897,749 (GRCm39) T255S probably benign Het
Wdr6 T A 9: 108,450,564 (GRCm39) N988I probably damaging Het
Wnk1 A T 6: 119,903,389 (GRCm39) I2359N unknown Het
Ybey A G 10: 76,304,025 (GRCm39) V59A probably benign Het
Zfp268 T A 4: 145,349,375 (GRCm39) C271S possibly damaging Het
Zfp397 A G 18: 24,090,122 (GRCm39) N142S probably benign Het
Zfy1 A T Y: 725,788 (GRCm39) V659E probably damaging Het
Other mutations in Cfap65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Cfap65 APN 1 74,958,342 (GRCm39) critical splice donor site probably null
IGL01526:Cfap65 APN 1 74,950,237 (GRCm39) missense probably damaging 1.00
IGL01716:Cfap65 APN 1 74,966,353 (GRCm39) missense probably benign
IGL01780:Cfap65 APN 1 74,967,507 (GRCm39) nonsense probably null
IGL01993:Cfap65 APN 1 74,959,702 (GRCm39) missense probably damaging 1.00
IGL02164:Cfap65 APN 1 74,967,304 (GRCm39) missense possibly damaging 0.87
IGL02350:Cfap65 APN 1 74,967,507 (GRCm39) nonsense probably null
IGL02357:Cfap65 APN 1 74,967,507 (GRCm39) nonsense probably null
IGL02576:Cfap65 APN 1 74,942,617 (GRCm39) missense probably damaging 1.00
IGL02756:Cfap65 APN 1 74,944,239 (GRCm39) missense probably benign 0.00
IGL02792:Cfap65 APN 1 74,966,337 (GRCm39) missense probably damaging 1.00
IGL02874:Cfap65 APN 1 74,950,267 (GRCm39) nonsense probably null
IGL03101:Cfap65 APN 1 74,967,592 (GRCm39) missense possibly damaging 0.61
IGL03348:Cfap65 APN 1 74,966,778 (GRCm39) missense probably damaging 1.00
IGL03396:Cfap65 APN 1 74,943,801 (GRCm39) missense probably damaging 1.00
PIT4131001:Cfap65 UTSW 1 74,967,501 (GRCm39) missense probably benign 0.05
R0077:Cfap65 UTSW 1 74,971,077 (GRCm39) missense probably damaging 1.00
R0227:Cfap65 UTSW 1 74,971,117 (GRCm39) nonsense probably null
R0281:Cfap65 UTSW 1 74,966,230 (GRCm39) missense probably damaging 1.00
R0312:Cfap65 UTSW 1 74,943,226 (GRCm39) missense probably damaging 1.00
R0331:Cfap65 UTSW 1 74,968,461 (GRCm39) missense probably damaging 1.00
R0331:Cfap65 UTSW 1 74,968,460 (GRCm39) missense probably damaging 1.00
R0347:Cfap65 UTSW 1 74,965,603 (GRCm39) missense probably damaging 1.00
R0359:Cfap65 UTSW 1 74,959,760 (GRCm39) missense probably benign 0.00
R0361:Cfap65 UTSW 1 74,964,599 (GRCm39) missense probably damaging 1.00
R0465:Cfap65 UTSW 1 74,956,043 (GRCm39) missense possibly damaging 0.92
R0549:Cfap65 UTSW 1 74,957,603 (GRCm39) missense probably benign 0.01
R0646:Cfap65 UTSW 1 74,941,328 (GRCm39) missense probably benign 0.09
R0734:Cfap65 UTSW 1 74,958,046 (GRCm39) missense probably damaging 1.00
R0763:Cfap65 UTSW 1 74,943,841 (GRCm39) missense probably damaging 0.99
R0990:Cfap65 UTSW 1 74,960,678 (GRCm39) missense possibly damaging 0.60
R1079:Cfap65 UTSW 1 74,944,872 (GRCm39) missense probably damaging 0.99
R1079:Cfap65 UTSW 1 74,941,606 (GRCm39) missense probably damaging 0.98
R1083:Cfap65 UTSW 1 74,957,663 (GRCm39) splice site probably benign
R1159:Cfap65 UTSW 1 74,968,499 (GRCm39) missense probably damaging 1.00
R1282:Cfap65 UTSW 1 74,964,263 (GRCm39) missense probably benign 0.03
R1644:Cfap65 UTSW 1 74,956,334 (GRCm39) missense probably damaging 1.00
R1796:Cfap65 UTSW 1 74,958,107 (GRCm39) missense probably damaging 1.00
R1950:Cfap65 UTSW 1 74,946,819 (GRCm39) missense probably damaging 1.00
R2079:Cfap65 UTSW 1 74,956,358 (GRCm39) missense probably benign 0.30
R2132:Cfap65 UTSW 1 74,946,850 (GRCm39) missense probably damaging 1.00
R2136:Cfap65 UTSW 1 74,956,432 (GRCm39) frame shift probably null
R2219:Cfap65 UTSW 1 74,943,184 (GRCm39) missense probably damaging 1.00
R2220:Cfap65 UTSW 1 74,943,184 (GRCm39) missense probably damaging 1.00
R2291:Cfap65 UTSW 1 74,965,634 (GRCm39) missense probably damaging 1.00
R2417:Cfap65 UTSW 1 74,966,345 (GRCm39) small insertion probably benign
R3114:Cfap65 UTSW 1 74,966,291 (GRCm39) missense probably damaging 1.00
R4202:Cfap65 UTSW 1 74,959,701 (GRCm39) missense probably damaging 1.00
R4214:Cfap65 UTSW 1 74,966,840 (GRCm39) missense possibly damaging 0.93
R4254:Cfap65 UTSW 1 74,942,517 (GRCm39) missense probably benign 0.17
R4547:Cfap65 UTSW 1 74,946,771 (GRCm39) missense probably damaging 1.00
R4548:Cfap65 UTSW 1 74,946,771 (GRCm39) missense probably damaging 1.00
R4588:Cfap65 UTSW 1 74,943,215 (GRCm39) missense possibly damaging 0.92
R4657:Cfap65 UTSW 1 74,964,513 (GRCm39) intron probably benign
R4701:Cfap65 UTSW 1 74,958,067 (GRCm39) missense probably damaging 0.96
R4755:Cfap65 UTSW 1 74,967,520 (GRCm39) missense probably damaging 1.00
R4820:Cfap65 UTSW 1 74,966,791 (GRCm39) missense probably benign 0.06
R4831:Cfap65 UTSW 1 74,956,454 (GRCm39) missense possibly damaging 0.93
R4866:Cfap65 UTSW 1 74,964,716 (GRCm39) missense probably damaging 1.00
R4869:Cfap65 UTSW 1 74,958,420 (GRCm39) missense probably benign 0.00
R4881:Cfap65 UTSW 1 74,946,772 (GRCm39) missense probably damaging 1.00
R4884:Cfap65 UTSW 1 74,942,283 (GRCm39) missense possibly damaging 0.47
R4950:Cfap65 UTSW 1 74,945,495 (GRCm39) nonsense probably null
R5074:Cfap65 UTSW 1 74,962,137 (GRCm39) missense probably benign 0.04
R5083:Cfap65 UTSW 1 74,945,600 (GRCm39) missense probably damaging 1.00
R5164:Cfap65 UTSW 1 74,965,675 (GRCm39) missense probably damaging 1.00
R5268:Cfap65 UTSW 1 74,964,061 (GRCm39) missense probably benign 0.07
R5333:Cfap65 UTSW 1 74,942,334 (GRCm39) missense probably benign 0.03
R5417:Cfap65 UTSW 1 74,964,259 (GRCm39) missense probably damaging 1.00
R5582:Cfap65 UTSW 1 74,946,677 (GRCm39) intron probably benign
R5669:Cfap65 UTSW 1 74,964,127 (GRCm39) missense probably damaging 0.99
R6010:Cfap65 UTSW 1 74,962,190 (GRCm39) missense probably damaging 1.00
R6084:Cfap65 UTSW 1 74,959,564 (GRCm39) missense probably damaging 1.00
R6112:Cfap65 UTSW 1 74,942,298 (GRCm39) missense probably benign 0.14
R6425:Cfap65 UTSW 1 74,966,868 (GRCm39) missense probably benign 0.00
R6677:Cfap65 UTSW 1 74,943,844 (GRCm39) missense probably damaging 1.00
R6693:Cfap65 UTSW 1 74,956,445 (GRCm39) missense probably benign 0.00
R6838:Cfap65 UTSW 1 74,971,180 (GRCm39) missense probably benign 0.06
R6861:Cfap65 UTSW 1 74,964,274 (GRCm39) missense probably damaging 1.00
R6958:Cfap65 UTSW 1 74,971,058 (GRCm39) missense possibly damaging 0.58
R7320:Cfap65 UTSW 1 74,965,763 (GRCm39) missense probably damaging 0.99
R7340:Cfap65 UTSW 1 74,960,742 (GRCm39) missense probably benign 0.07
R7426:Cfap65 UTSW 1 74,959,585 (GRCm39) missense possibly damaging 0.92
R7529:Cfap65 UTSW 1 74,965,769 (GRCm39) missense probably damaging 1.00
R7634:Cfap65 UTSW 1 74,941,593 (GRCm39) missense probably damaging 1.00
R7654:Cfap65 UTSW 1 74,972,303 (GRCm39) missense probably benign 0.44
R7704:Cfap65 UTSW 1 74,967,527 (GRCm39) missense probably benign 0.19
R7727:Cfap65 UTSW 1 74,965,784 (GRCm39) missense probably benign 0.00
R7895:Cfap65 UTSW 1 74,972,321 (GRCm39) missense probably benign 0.05
R8215:Cfap65 UTSW 1 74,949,902 (GRCm39) missense probably damaging 1.00
R8344:Cfap65 UTSW 1 74,967,203 (GRCm39) missense probably benign 0.01
R8345:Cfap65 UTSW 1 74,967,203 (GRCm39) missense probably benign 0.01
R8413:Cfap65 UTSW 1 74,956,328 (GRCm39) nonsense probably null
R8431:Cfap65 UTSW 1 74,967,203 (GRCm39) missense probably benign 0.01
R8432:Cfap65 UTSW 1 74,967,203 (GRCm39) missense probably benign 0.01
R8528:Cfap65 UTSW 1 74,945,096 (GRCm39) missense possibly damaging 0.88
R8809:Cfap65 UTSW 1 74,942,382 (GRCm39) missense probably benign 0.43
R8996:Cfap65 UTSW 1 74,941,347 (GRCm39) missense probably benign 0.11
R9020:Cfap65 UTSW 1 74,959,552 (GRCm39) missense probably damaging 1.00
R9043:Cfap65 UTSW 1 74,943,847 (GRCm39) missense possibly damaging 0.88
R9127:Cfap65 UTSW 1 74,958,510 (GRCm39) splice site probably benign
R9187:Cfap65 UTSW 1 74,956,517 (GRCm39) missense probably benign 0.00
R9210:Cfap65 UTSW 1 74,959,567 (GRCm39) missense probably benign
R9212:Cfap65 UTSW 1 74,959,567 (GRCm39) missense probably benign
R9273:Cfap65 UTSW 1 74,960,769 (GRCm39) missense probably benign 0.00
R9454:Cfap65 UTSW 1 74,944,210 (GRCm39) missense probably damaging 1.00
R9514:Cfap65 UTSW 1 74,945,468 (GRCm39) critical splice donor site probably null
R9595:Cfap65 UTSW 1 74,946,537 (GRCm39) missense probably damaging 1.00
R9721:Cfap65 UTSW 1 74,958,501 (GRCm39) missense probably benign 0.16
R9742:Cfap65 UTSW 1 74,943,840 (GRCm39) missense probably benign 0.08
RF009:Cfap65 UTSW 1 74,944,806 (GRCm39) missense probably damaging 1.00
Z1176:Cfap65 UTSW 1 74,949,906 (GRCm39) 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