Incidental Mutation 'R2220:Cfap65'
ID 241396
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 040222-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.720) question?
Stock # R2220 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74904025 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1614 (I1614V)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083682
Predicted Effect probably damaging
Transcript: ENSMUST00000094844
AA Change: I1614V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: I1614V

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: ENSMUST00000160540
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,618,002 (GRCm38) I116T probably damaging Het
Aatk G T 11: 120,012,177 (GRCm38) F407L probably damaging Het
Abca8a A T 11: 110,026,855 (GRCm38) L1586Q probably damaging Het
Aox1 A G 1: 58,349,130 (GRCm38) probably null Het
Ap5m1 A G 14: 49,081,095 (GRCm38) D420G probably damaging Het
Bcl6 A T 16: 23,972,632 (GRCm38) L324* probably null Het
Bicc1 A G 10: 70,950,125 (GRCm38) S396P probably damaging Het
Bltp1 T C 3: 36,875,530 (GRCm38) probably null Het
Ccdc83 G A 7: 90,259,514 (GRCm38) S4L probably damaging Het
Cdkal1 T A 13: 29,354,758 (GRCm38) M473L probably benign Het
Cep85 T C 4: 134,153,867 (GRCm38) H363R probably damaging Het
Cfap61 G A 2: 146,036,816 (GRCm38) probably null Het
Cluh T A 11: 74,667,121 (GRCm38) F1062I probably damaging Het
Cntnap5a A T 1: 116,580,639 (GRCm38) T1294S possibly damaging Het
Cops8 A C 1: 90,606,619 (GRCm38) N94T probably benign Het
Csmd1 T C 8: 15,992,641 (GRCm38) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,395,045 (GRCm38) D55G probably benign Het
Cyp2c29 A T 19: 39,287,232 (GRCm38) I39F probably benign Het
Cyp2j8 T C 4: 96,444,625 (GRCm38) S495G probably benign Het
Dhx30 A G 9: 110,087,635 (GRCm38) L575P probably damaging Het
Dnah7a C T 1: 53,521,174 (GRCm38) V2113I probably benign Het
Dusp3 T C 11: 101,974,805 (GRCm38) N95D probably damaging Het
Espl1 A G 15: 102,312,989 (GRCm38) I944V probably damaging Het
Fer1l4 T G 2: 156,031,764 (GRCm38) Y1207S probably damaging Het
Flg2 T G 3: 93,202,185 (GRCm38) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm38) H98R probably damaging Het
Ggnbp2 T C 11: 84,836,613 (GRCm38) N63S possibly damaging Het
Ggt7 A G 2: 155,495,719 (GRCm38) S504P probably damaging Het
Gtf2h5 G A 17: 6,084,578 (GRCm38) E48K probably benign Het
Hivep3 T G 4: 119,734,038 (GRCm38) V81G possibly damaging Het
Igsf21 A G 4: 140,028,114 (GRCm38) M410T probably damaging Het
Insrr T C 3: 87,809,418 (GRCm38) L651P probably damaging Het
Iqcb1 A T 16: 36,843,462 (GRCm38) probably null Het
Klhdc7a G A 4: 139,965,453 (GRCm38) R728C probably benign Het
Lars2 T C 9: 123,418,780 (GRCm38) L334P probably damaging Het
Mast3 T C 8: 70,780,963 (GRCm38) E994G probably damaging Het
Mertk T A 2: 128,801,472 (GRCm38) N930K probably benign Het
Mettl21a A T 1: 64,616,283 (GRCm38) V46E probably damaging Het
Nedd4 T A 9: 72,736,707 (GRCm38) C614S probably damaging Het
Or13a19 T C 7: 140,323,571 (GRCm38) S291P probably benign Het
Or2l13b A T 16: 19,530,145 (GRCm38) Y258* probably null Het
Or5k1 G T 16: 58,797,624 (GRCm38) A74D possibly damaging Het
Pard3b C T 1: 62,479,683 (GRCm38) R976* probably null Het
Pcdhb16 A G 18: 37,478,967 (GRCm38) T327A probably benign Het
Pira12 A T 7: 3,897,489 (GRCm38) N87K probably benign Het
Ppp1r37 C A 7: 19,532,446 (GRCm38) R465L probably null Het
Ppp3ca C A 3: 136,797,924 (GRCm38) T86K probably damaging Het
Ralgapa2 G A 2: 146,421,679 (GRCm38) T706I probably benign Het
Rnf213 T C 11: 119,436,428 (GRCm38) L1747P possibly damaging Het
Slc11a1 T A 1: 74,380,665 (GRCm38) F166I probably damaging Het
Slc25a18 G A 6: 120,793,557 (GRCm38) probably null Het
Stt3a A G 9: 36,749,551 (GRCm38) probably null Het
Supt16 G A 14: 52,172,144 (GRCm38) R770* probably null Het
Syde2 A G 3: 146,001,958 (GRCm38) I551V probably benign Het
Tasor2 A T 13: 3,581,872 (GRCm38) N876K probably benign Het
Tecta T C 9: 42,392,030 (GRCm38) D102G probably damaging Het
Tmc7 A T 7: 118,552,816 (GRCm38) I294N possibly damaging Het
Tmem174 T C 13: 98,637,259 (GRCm38) Y21C probably damaging Het
Tomm40l A T 1: 171,221,981 (GRCm38) L13* probably null Het
Trim30c A G 7: 104,383,267 (GRCm38) V284A probably benign Het
Ttc23l G A 15: 10,537,566 (GRCm38) S206L probably benign Het
Uggt2 A T 14: 119,075,337 (GRCm38) N353K probably damaging Het
Vps13d C T 4: 145,178,320 (GRCm38) V79M probably damaging Het
Wfdc18 C T 11: 83,709,913 (GRCm38) R45* probably null 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
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
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'- CATCTTCAAGCCTGCCACAG -3'
(R):5'- GCCTAGTAGTTTTCCAAGTCCAC -3'

Sequencing Primer
(F):5'- CCAGGATTCAGGCTGAAGGC -3'
(R):5'- AGTAGTTTTCCAAGTCCACTCAGG -3'
Posted On 2014-10-15