Incidental Mutation 'R6084:Cfap65'
ID 482349
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 044243-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # R6084 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74941230-74974758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74959564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 862 (I862T)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably damaging
Transcript: ENSMUST00000094844
AA Change: I862T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: I862T

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,828,297 (GRCm39) D958G possibly damaging Het
Bag4 T C 8: 26,261,259 (GRCm39) T161A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cacna2d2 T C 9: 107,374,720 (GRCm39) probably null Het
Cass4 G T 2: 172,268,832 (GRCm39) A307S probably benign Het
Cbln4 A T 2: 171,884,016 (GRCm39) V68E probably damaging Het
Cc2d2a T A 5: 43,826,015 (GRCm39) N2K probably benign Het
Ccnf T A 17: 24,450,811 (GRCm39) D389V probably damaging Het
Cdipt T C 7: 126,578,773 (GRCm39) S161P probably benign Het
Ceacam19 T C 7: 19,616,812 (GRCm39) I161V probably benign Het
Cfi T A 3: 129,652,019 (GRCm39) L230Q probably benign Het
Chac2 G A 11: 30,936,159 (GRCm39) R30W probably damaging Het
Cmc2 G A 8: 117,616,566 (GRCm39) probably benign Het
Col1a2 A T 6: 4,505,840 (GRCm39) M1L probably benign Het
Cox8a C A 19: 7,194,783 (GRCm39) R32L possibly damaging Het
Cubn T A 2: 13,435,708 (GRCm39) N1083Y probably damaging Het
D630003M21Rik T C 2: 158,059,504 (GRCm39) D132G probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dnaaf3 T C 7: 4,527,212 (GRCm39) D358G probably benign Het
Dysf T C 6: 84,089,101 (GRCm39) L888P probably damaging Het
Dysf T A 6: 83,996,586 (GRCm39) F29L probably damaging Het
Ebf4 A G 2: 130,151,643 (GRCm39) D277G probably damaging Het
Ecm2 T A 13: 49,668,570 (GRCm39) L91* probably null Het
Foxs1 T C 2: 152,774,762 (GRCm39) D97G possibly damaging Het
Frs2 A C 10: 116,912,714 (GRCm39) probably null Het
Grp A T 18: 66,013,008 (GRCm39) D58V probably damaging Het
Hif1a T G 12: 73,988,616 (GRCm39) F537C probably damaging Het
Icam4 G A 9: 20,940,835 (GRCm39) S29N probably benign Het
Itfg1 T C 8: 86,452,799 (GRCm39) E523G probably benign Het
Jph2 T C 2: 163,217,600 (GRCm39) K359E probably damaging Het
Katnip G A 7: 125,414,037 (GRCm39) G394R probably benign Het
Kcnq2 A T 2: 180,729,449 (GRCm39) V490E possibly damaging Het
Klhl18 C T 9: 110,257,795 (GRCm39) M548I possibly damaging Het
Lpin3 A G 2: 160,737,721 (GRCm39) Y197C probably benign Het
Lrp1 T C 10: 127,396,422 (GRCm39) N2381D probably benign Het
Man1a A T 10: 53,795,307 (GRCm39) W649R probably damaging Het
Map4 T C 9: 109,893,360 (GRCm39) L542P probably damaging Het
Mboat2 A T 12: 24,928,284 (GRCm39) H52L probably damaging Het
Mok C G 12: 110,781,380 (GRCm39) S91T probably benign Het
Mtmr11 G T 3: 96,075,400 (GRCm39) R360L probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncoa4-ps A G 12: 119,225,386 (GRCm39) noncoding transcript Het
Or1j13 A G 2: 36,369,524 (GRCm39) V206A probably benign Het
Or4g7 A T 2: 111,309,734 (GRCm39) N202Y probably damaging Het
Or52z1 C T 7: 103,437,162 (GRCm39) M107I probably benign Het
Or55b4 T C 7: 102,133,596 (GRCm39) T244A probably damaging Het
Or7d11 A T 9: 19,966,179 (GRCm39) H75Q possibly damaging Het
Or7g21 A G 9: 19,032,623 (GRCm39) D121G probably damaging Het
Padi3 G T 4: 140,523,154 (GRCm39) T292N probably damaging Het
Pard6g A C 18: 80,160,420 (GRCm39) T178P possibly damaging Het
Pkd1l2 A T 8: 117,740,726 (GRCm39) Y2124N probably damaging Het
Plxdc1 G A 11: 97,819,289 (GRCm39) T398I probably damaging Het
Prickle2 A T 6: 92,393,829 (GRCm39) C225* probably null Het
Prmt2 G A 10: 76,046,278 (GRCm39) T317I probably benign Het
Psg22 T G 7: 18,453,705 (GRCm39) N172K probably benign Het
Ptpn9 C T 9: 56,940,447 (GRCm39) R196* probably null Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rapgef4 T A 2: 72,026,622 (GRCm39) probably null Het
Rlf A T 4: 121,006,412 (GRCm39) M856K possibly damaging Het
Rnf149 A G 1: 39,616,255 (GRCm39) L34P probably benign Het
Rock1 T C 18: 10,101,007 (GRCm39) E636G probably benign Het
Rsad2 A T 12: 26,504,122 (GRCm39) Y136N probably damaging Het
Ryr3 T C 2: 112,738,838 (GRCm39) H563R probably damaging Het
Slc18b1 A G 10: 23,680,110 (GRCm39) M102V probably benign Het
Slc34a2 T A 5: 53,224,989 (GRCm39) C377S possibly damaging Het
Slco1c1 T C 6: 141,492,496 (GRCm39) V293A probably benign Het
Spidr A T 16: 15,957,888 (GRCm39) S80T possibly damaging Het
Syne1 C T 10: 5,298,994 (GRCm39) E1031K probably damaging Het
Synj2 G A 17: 6,067,889 (GRCm39) V121I probably damaging Het
Synj2 A T 17: 6,088,373 (GRCm39) T1430S probably damaging Het
Tecpr2 G T 12: 110,895,543 (GRCm39) K343N probably damaging Het
Tmem132d T A 5: 127,861,164 (GRCm39) I986F probably benign Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Ttll10 T A 4: 156,129,814 (GRCm39) D283V probably benign Het
Ttn T A 2: 76,645,123 (GRCm39) K673* probably null Het
Ubqlnl T A 7: 103,797,905 (GRCm39) M531L probably benign Het
Vmn2r120 A T 17: 57,832,721 (GRCm39) W153R probably benign Het
Vmn2r2 A C 3: 64,024,467 (GRCm39) S705A probably benign Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r54 T A 7: 12,366,205 (GRCm39) Q243L probably damaging Het
Wdr24 C A 17: 26,043,504 (GRCm39) R109S probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp616 A T 11: 73,974,672 (GRCm39) K314* probably null 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
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
R7134:Cfap65 UTSW 1 74,965,792 (GRCm39) missense probably benign 0.01
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'- ATGTTGCCTCCAGTCCCAAC -3'
(R):5'- TGGATCTGAAGCTGGACACC -3'

Posted On 2017-07-14