Incidental Mutation 'R4869:Cfap65'
ID 376377
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 042479-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.720) question?
Stock # R4869 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74941230-74974758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74958420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 896 (S896P)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably benign
Transcript: ENSMUST00000094844
AA Change: S896P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: S896P

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
Meta Mutation Damage Score 0.0751 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (102/103)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,161,488 (GRCm39) K943N probably damaging Het
Abca13 G A 11: 9,265,434 (GRCm39) probably null Het
Ankub1 A G 3: 57,597,751 (GRCm39) L73P probably damaging Het
Birc6 A G 17: 74,893,007 (GRCm39) I982V probably benign Het
Cabyr G T 18: 12,884,875 (GRCm39) *454L probably null Het
Ccdc57 C T 11: 120,794,344 (GRCm39) probably null Het
Cd209c A G 8: 3,994,077 (GRCm39) F128L probably benign Het
Cdh23 A T 10: 60,212,713 (GRCm39) I1566N probably damaging Het
Cdon T C 9: 35,364,200 (GRCm39) V106A possibly damaging Het
Cebpa G T 7: 34,819,246 (GRCm39) G135C probably damaging Het
Ciz1 T C 2: 32,254,247 (GRCm39) S63P probably damaging Het
Clybl G A 14: 122,621,618 (GRCm39) V269M probably damaging Het
Ctnnb1 G T 9: 120,782,060 (GRCm39) V358L possibly damaging Het
Cwh43 G T 5: 73,586,016 (GRCm39) probably null Het
Cyp2d10 G A 15: 82,287,967 (GRCm39) R379C probably benign Het
Dab2ip C A 2: 35,610,049 (GRCm39) R727S probably damaging Het
Dmrt1 T A 19: 25,483,219 (GRCm39) M1K probably null Het
Dock1 A T 7: 134,335,800 (GRCm39) I65F probably damaging Het
Ercc2 T C 7: 19,120,732 (GRCm39) V155A probably damaging Het
Exph5 A C 9: 53,287,539 (GRCm39) D1540A possibly damaging Het
Fat3 T A 9: 16,288,773 (GRCm39) H250L probably damaging Het
Fbxw10 C A 11: 62,753,557 (GRCm39) A517E probably damaging Het
Furin A T 7: 80,046,727 (GRCm39) N176K probably damaging Het
Gabrb3 A G 7: 57,442,207 (GRCm39) probably benign Het
Gabrg2 A T 11: 41,811,231 (GRCm39) S305T probably damaging Het
Gas6 G T 8: 13,525,086 (GRCm39) S299R possibly damaging Het
Gga3 G T 11: 115,477,111 (GRCm39) probably benign Het
Gle1 A G 2: 29,826,032 (GRCm39) E37G possibly damaging Het
Gm7964 A G 7: 83,405,350 (GRCm39) D80G possibly damaging Het
Gne C T 4: 44,055,204 (GRCm39) probably null Het
Grid2 G T 6: 64,406,724 (GRCm39) G695W probably damaging Het
H2-M10.6 A T 17: 37,123,425 (GRCm39) M40L probably benign Het
Hectd4 G T 5: 121,460,735 (GRCm39) V905L possibly damaging Het
Isyna1 C A 8: 71,049,412 (GRCm39) S441R possibly damaging Het
Kcnh3 C T 15: 99,139,913 (GRCm39) S933L probably benign Het
Knl1 T C 2: 118,902,832 (GRCm39) I1511T possibly damaging Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Lipo4 C T 19: 33,478,953 (GRCm39) probably null Het
Llgl1 T A 11: 60,598,036 (GRCm39) L360* probably null Het
Map2k5 G A 9: 63,229,525 (GRCm39) R169* probably null Het
Muc19 A T 15: 91,781,910 (GRCm39) noncoding transcript Het
Muc4 G A 16: 32,754,836 (GRCm38) probably benign Het
Myh4 A G 11: 67,143,490 (GRCm39) E1074G probably damaging Het
Naip5 C T 13: 100,381,639 (GRCm39) G210E probably damaging Het
Nalcn A G 14: 123,837,296 (GRCm39) S23P probably benign Het
Nepro T A 16: 44,550,536 (GRCm39) M176K probably damaging Het
Nlrp6 G A 7: 140,504,006 (GRCm39) C704Y probably damaging Het
Notch1 A G 2: 26,361,191 (GRCm39) S1100P probably benign Het
Nrxn3 A G 12: 88,762,352 (GRCm39) E133G possibly damaging Het
Obi1 A G 14: 104,716,252 (GRCm39) I707T probably damaging Het
Parp9 T C 16: 35,777,274 (GRCm39) L406S probably damaging Het
Peak1 G T 9: 56,134,876 (GRCm39) A155D probably benign Het
Piezo1 G A 8: 123,214,284 (GRCm39) H1628Y probably benign Het
Piwil2 A G 14: 70,632,811 (GRCm39) V587A probably benign Het
Pkn2 A G 3: 142,509,379 (GRCm39) Y722H probably damaging Het
Plch2 A T 4: 155,073,885 (GRCm39) I834K probably benign Het
Pld1 A G 3: 28,163,951 (GRCm39) T795A possibly damaging Het
Plekhh1 A G 12: 79,097,160 (GRCm39) S103G probably benign Het
Ppl T C 16: 4,922,753 (GRCm39) Y246C probably damaging Het
Prpf40b G A 15: 99,207,726 (GRCm39) probably benign Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp3 T A 4: 59,524,443 (GRCm39) I28F possibly damaging Het
Ptrh2 A T 11: 86,580,631 (GRCm39) K83* probably null Het
Rai1 T C 11: 60,077,588 (GRCm39) S551P probably damaging Het
Rapgefl1 A T 11: 98,741,935 (GRCm39) Q633L probably damaging Het
Rb1cc1 T C 1: 6,285,245 (GRCm39) probably benign Het
Rif1 T A 2: 51,983,623 (GRCm39) probably benign Het
Rnf141 A G 7: 110,424,557 (GRCm39) Y101H probably damaging Het
Rttn T A 18: 89,061,138 (GRCm39) L1102* probably null Het
Sall4 G A 2: 168,597,637 (GRCm39) S401F probably damaging Het
Saxo5 G A 8: 3,537,148 (GRCm39) S498N probably damaging Het
Sec11c T C 18: 65,934,541 (GRCm39) I36T probably benign Het
Sel1l A G 12: 91,780,828 (GRCm39) probably benign Het
Setd1a T C 7: 127,396,776 (GRCm39) probably benign Het
Sez6l2 C T 7: 126,561,014 (GRCm39) P433L probably benign Het
Sgf29 T C 7: 126,248,547 (GRCm39) probably benign Het
Slc47a1 A G 11: 61,253,520 (GRCm39) V305A probably benign Het
Slco1a8 T C 6: 141,933,492 (GRCm39) D431G probably damaging Het
Sun2 T C 15: 79,612,587 (GRCm39) probably benign Het
Tecta T C 9: 42,286,830 (GRCm39) S609G probably benign Het
Tmprss6 T A 15: 78,327,880 (GRCm39) probably null Het
Tns1 T C 1: 73,991,774 (GRCm39) H968R probably benign Het
Tomm34 G A 2: 163,896,637 (GRCm39) A270V probably damaging Het
Tpo T C 12: 30,153,364 (GRCm39) K330R probably benign Het
Ttn T A 2: 76,542,837 (GRCm39) Y33383F probably damaging Het
Unc13c G T 9: 73,587,716 (GRCm39) A1439D probably benign Het
Vcp C T 4: 42,993,691 (GRCm39) R147H probably benign Het
Vps13d A G 4: 144,854,612 (GRCm39) L2272P probably damaging Het
Wdfy3 A G 5: 102,042,787 (GRCm39) L1988P probably damaging Het
Wwc2 A G 8: 48,373,713 (GRCm39) F51S probably damaging Het
Zfp454 C T 11: 50,763,980 (GRCm39) C373Y probably damaging Het
Zfp853 A T 5: 143,274,048 (GRCm39) V473E probably damaging Het
Zfp959 A T 17: 56,204,228 (GRCm39) R85S possibly 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
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
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'- ACAGCCAACTAGCTTCTGGG -3'
(R):5'- GCAAGCATTTGTAACAGGACC -3'

Sequencing Primer
(F):5'- GTGCAAGGATCCGTATCTTGTCC -3'
(R):5'- GCATTTGTAACAGGACCTCCCC -3'
Posted On 2016-03-17