Incidental Mutation 'R4831:Cfap65'
ID 372779
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 042447-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R4831 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74917295 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1042 (V1042F)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect possibly damaging
Transcript: ENSMUST00000094844
AA Change: V1042F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: V1042F

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (96/97)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C T 11: 69,900,577 (GRCm38) V59I possibly damaging Het
4930544M13Rik T G 13: 114,607,647 (GRCm38) noncoding transcript Het
Abca13 A T 11: 9,542,077 (GRCm38) K4373* probably null Het
Abtb2 A T 2: 103,683,475 (GRCm38) T410S probably benign Het
Adamts13 T C 2: 26,983,130 (GRCm38) probably null Het
Ahnak2 C G 12: 112,775,749 (GRCm38) D630H probably damaging Het
Aox3 T C 1: 58,152,566 (GRCm38) S426P probably damaging Het
Atxn10 C T 15: 85,387,059 (GRCm38) S266F probably benign Het
B4galnt4 T A 7: 141,064,557 (GRCm38) probably null Het
B4galnt4 G T 7: 141,067,721 (GRCm38) M407I probably damaging Het
Bclaf1 T A 10: 20,322,126 (GRCm38) probably benign Het
C4b C T 17: 34,736,890 (GRCm38) probably null Het
Cdc42bpg T C 19: 6,311,335 (GRCm38) F297S probably damaging Het
Cdh10 A T 15: 19,013,578 (GRCm38) T755S probably benign Het
Ceacam12 T A 7: 18,077,380 (GRCm38) probably null Het
Cfap77 T C 2: 28,985,832 (GRCm38) I89V probably benign Het
Cfh T C 1: 140,086,387 (GRCm38) D688G probably benign Het
Clip1 C G 5: 123,583,601 (GRCm38) A1182P probably damaging Het
Cyp2b10 T A 7: 25,915,496 (GRCm38) Y309* probably null Het
Dcaf5 T C 12: 80,339,084 (GRCm38) E756G probably benign Het
Dctn1 A T 6: 83,199,771 (GRCm38) Q1231L possibly damaging Het
Dennd1c T A 17: 57,066,428 (GRCm38) R682* probably null Het
Eml6 C A 11: 29,777,052 (GRCm38) E1319* probably null Het
Erap1 T C 13: 74,690,647 (GRCm38) I904T probably damaging Het
Eri1 A T 8: 35,476,519 (GRCm38) I207N possibly damaging Het
Farp1 G A 14: 121,277,057 (GRCm38) A933T probably damaging Het
Fcna T A 2: 25,625,341 (GRCm38) Q210L probably benign Het
Fhad1 A T 4: 141,916,067 (GRCm38) probably null Het
Fut8 T G 12: 77,393,829 (GRCm38) Y197D probably damaging Het
Garem1 G A 18: 21,129,768 (GRCm38) T663I probably benign Het
Gfm2 T C 13: 97,165,038 (GRCm38) S450P probably damaging Het
Gstk1 T G 6: 42,246,004 (GRCm38) probably benign Het
Helz2 C T 2: 181,237,417 (GRCm38) A803T probably damaging Het
Igsf9 T A 1: 172,491,888 (GRCm38) I280N probably damaging Het
Klhl10 A G 11: 100,445,843 (GRCm38) K219E probably benign Het
L3mbtl4 T A 17: 68,461,563 (GRCm38) V222D probably damaging Het
Lrrc9 A T 12: 72,499,679 (GRCm38) N1214Y probably damaging Het
Ltbp2 C T 12: 84,793,640 (GRCm38) E1051K possibly damaging Het
Mettl17 T C 14: 51,884,983 (GRCm38) F13S probably benign Het
Mettl24 C A 10: 40,683,417 (GRCm38) A21D possibly damaging Het
Mfsd6l T A 11: 68,556,505 (GRCm38) C61S probably benign Het
Mob4 T G 1: 55,152,740 (GRCm38) D204E probably benign Het
Mtus1 C G 8: 41,083,152 (GRCm38) R509T probably damaging Het
Nlrp4a T A 7: 26,450,419 (GRCm38) F484I possibly damaging Het
Nsrp1 T C 11: 77,050,618 (GRCm38) N88S probably benign Het
Odad2 G T 18: 7,222,564 (GRCm38) H568Q possibly damaging Het
Or10d5 C T 9: 39,950,112 (GRCm38) V220I probably benign Het
Or2g25 T A 17: 37,660,078 (GRCm38) H85L probably benign Het
Or51b6b T C 7: 103,660,471 (GRCm38) T260A probably benign Het
Or6c2 T A 10: 129,526,580 (GRCm38) Y118N probably damaging Het
Parg A G 14: 32,202,451 (GRCm38) N69S probably benign Het
Pcdh9 A C 14: 93,887,941 (GRCm38) N264K probably damaging Het
Pcdhb22 G T 18: 37,520,562 (GRCm38) L694F probably damaging Het
Pcnt T C 10: 76,412,501 (GRCm38) E928G probably damaging Het
Pdzk1 G A 3: 96,868,435 (GRCm38) G373D probably benign Het
Pea15a A G 1: 172,199,173 (GRCm38) I89T probably damaging Het
Phc1 T A 6: 122,337,005 (GRCm38) probably benign Het
Pikfyve T A 1: 65,196,741 (GRCm38) C191S probably damaging Het
Pitpnm1 T A 19: 4,108,130 (GRCm38) D573E probably damaging Het
Pld5 A G 1: 176,274,884 (GRCm38) probably benign Het
Plscr2 A T 9: 92,291,077 (GRCm38) N89I possibly damaging Het
Pm20d2 A C 4: 33,179,293 (GRCm38) N315K probably damaging Het
Pnpla1 T A 17: 28,878,544 (GRCm38) M228K probably benign Het
Prim2 T C 1: 33,670,136 (GRCm38) probably benign Het
Ralgapa2 A G 2: 146,405,067 (GRCm38) probably benign Het
Rgs22 G T 15: 36,050,148 (GRCm38) H719N probably benign Het
Ror2 C T 13: 53,118,844 (GRCm38) D250N probably damaging Het
Saal1 A G 7: 46,699,647 (GRCm38) V281A probably benign Het
Selenof A T 3: 144,590,650 (GRCm38) K94N probably damaging Het
Slamf9 T A 1: 172,477,264 (GRCm38) C148* probably null Het
Slc4a7 T C 14: 14,772,699 (GRCm38) probably null Het
Slco1a5 A G 6: 142,234,705 (GRCm38) I657T probably benign Het
St3gal2 A T 8: 110,957,848 (GRCm38) H46L probably benign Het
Sucnr1 T G 3: 60,086,648 (GRCm38) M199R probably damaging Het
Taok1 T A 11: 77,553,674 (GRCm38) E525V probably null Het
Tbc1d10c T A 19: 4,185,446 (GRCm38) E298V probably damaging Het
Tll2 T A 19: 41,130,512 (GRCm38) H259L probably damaging Het
Tpcn1 A T 5: 120,553,489 (GRCm38) F300Y probably damaging Het
Uba6 T A 5: 86,131,338 (GRCm38) I642L probably benign Het
Ubqln5 T A 7: 104,129,622 (GRCm38) probably benign Het
Vmn1r27 A T 6: 58,215,842 (GRCm38) L9Q possibly damaging Het
Vmn2r100 C T 17: 19,521,410 (GRCm38) T128I probably benign Het
Vmn2r109 C T 17: 20,541,232 (GRCm38) G621D probably benign Het
Vmn2r49 C T 7: 9,986,425 (GRCm38) D380N probably benign Het
Vps13a C T 19: 16,677,992 (GRCm38) V1891I probably benign Het
Wbp2 G T 11: 116,080,637 (GRCm38) Y147* probably null Het
Wdr46 T A 17: 33,941,836 (GRCm38) N191K probably benign Het
Wdr46 T C 17: 33,949,399 (GRCm38) probably benign Het
Wnt2 A C 6: 18,023,286 (GRCm38) F121L probably benign Het
Xpnpep1 T A 19: 53,014,622 (GRCm38) D100V probably benign Het
Xpo4 T C 14: 57,590,102 (GRCm38) Y879C probably damaging Het
Zswim4 A T 8: 84,212,319 (GRCm38) V978D 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
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
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'- AGCTTCTTGGGAAAGGCCTG -3'
(R):5'- CTGCCATTGGAAATATGCTCAAG -3'

Sequencing Primer
(F):5'- TGTGAGCCTCCCGTGTTGC -3'
(R):5'- TATGCTCAAGATTGAAGCTGAGCC -3'
Posted On 2016-03-01