Incidental Mutation 'R9043:Cfap65'
ID 687809
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 068870-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.720) question?
Stock # R9043 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74904688 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1555 (T1555S)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect possibly damaging
Transcript: ENSMUST00000094844
AA Change: T1555S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: T1555S

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 0.1163 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 99% (87/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T A 8: 87,582,610 (GRCm38) S134T possibly damaging Het
Aadacl4 T A 4: 144,623,220 (GRCm38) L349Q probably damaging Het
Ankrd29 T C 18: 12,295,913 (GRCm38) N33S probably damaging Het
Arid3b T C 9: 57,792,617 (GRCm38) S536G possibly damaging Het
Art5 A C 7: 102,099,492 (GRCm38) M1R probably null Het
Arvcf T A 16: 18,399,702 (GRCm38) C545S probably damaging Het
Atpsckmt A G 15: 31,616,955 (GRCm38) T189A probably benign Het
Axin2 T A 11: 108,942,968 (GRCm38) N580K probably benign Het
BC037034 G A 5: 138,261,627 (GRCm38) T389I possibly damaging Het
Cdh23 T G 10: 60,315,699 (GRCm38) D2469A probably benign Het
Cep350 T A 1: 155,897,482 (GRCm38) T1781S probably damaging Het
Chga G A 12: 102,562,795 (GRCm38) E344K possibly damaging Het
Ckap2l A T 2: 129,284,972 (GRCm38) L429M probably damaging Het
Cpne7 C T 8: 123,130,212 (GRCm38) P402L probably damaging Het
Cyp2g1 A G 7: 26,809,831 (GRCm38) N110S probably benign Het
Cyp3a11 T C 5: 145,869,185 (GRCm38) D124G probably benign Het
Dgkq A T 5: 108,653,195 (GRCm38) V527D probably damaging Het
Dnah3 T C 7: 119,952,049 (GRCm38) I37V probably benign Het
Dnah9 T A 11: 65,954,854 (GRCm38) E3068V Het
Dusp23 T C 1: 172,632,617 (GRCm38) E89G probably null Het
Fam187a A G 11: 102,885,859 (GRCm38) Y163C possibly damaging Het
Gabrg2 T A 11: 41,974,835 (GRCm38) I106F probably damaging Het
Gpc2 A G 5: 138,278,931 (GRCm38) I78T probably benign Het
Gpr149 A C 3: 62,603,939 (GRCm38) L213R probably damaging Het
Grm1 A T 10: 10,689,312 (GRCm38) L1084* probably null Het
Gypa A G 8: 80,496,317 (GRCm38) T17A unknown Het
Gys2 A T 6: 142,430,333 (GRCm38) F534L probably damaging Het
Iqce A T 5: 140,666,055 (GRCm38) M721K probably benign Het
Klrc2 T A 6: 129,658,778 (GRCm38) Y129F probably damaging Het
Krt14 T C 11: 100,204,638 (GRCm38) S314G possibly damaging Het
L3mbtl3 T C 10: 26,280,254 (GRCm38) Q685R unknown Het
Lamb3 A T 1: 193,325,611 (GRCm38) K206* probably null Het
Lgr5 A G 10: 115,478,438 (GRCm38) I198T probably damaging Het
Mapk10 A T 5: 102,926,159 (GRCm38) probably benign Het
Mcm6 C T 1: 128,343,494 (GRCm38) D463N probably damaging Het
Med15 A T 16: 17,652,718 (GRCm38) W742R probably benign Het
Meis1 T A 11: 18,881,916 (GRCm38) Q374L possibly damaging Het
Nrxn3 T C 12: 89,260,482 (GRCm38) C296R probably damaging Het
Ntaq1 A G 15: 58,150,608 (GRCm38) Y67C possibly damaging Het
Oaf C T 9: 43,224,011 (GRCm38) A157T probably damaging Het
Oca2 T A 7: 56,277,441 (GRCm38) probably null Het
Or5b110-ps1 A T 19: 13,282,710 (GRCm38) M116K probably damaging Het
Or5b12 T A 19: 12,920,303 (GRCm38) E2V probably benign Het
Or5d36 T A 2: 88,070,639 (GRCm38) T248S possibly damaging Het
Or9k2b A T 10: 130,180,285 (GRCm38) H198Q probably benign Het
Pacs1 A G 19: 5,138,936 (GRCm38) I806T probably benign Het
Pax2 T A 19: 44,816,060 (GRCm38) S257T probably benign Het
Pbxip1 A T 3: 89,443,487 (GRCm38) T72S probably benign Het
Pcdhb14 T C 18: 37,448,798 (GRCm38) I319T probably damaging Het
Pcdhga2 C A 18: 37,669,910 (GRCm38) A269E possibly damaging Het
Pdzph1 A C 17: 58,973,540 (GRCm38) N582K probably benign Het
Plk2 A T 13: 110,396,660 (GRCm38) I186F probably damaging Het
Pzp A T 6: 128,494,779 (GRCm38) C895S probably damaging Het
Rasa2 A T 9: 96,602,717 (GRCm38) V148D probably damaging Het
Rgsl1 A T 1: 153,841,821 (GRCm38) I14N possibly damaging Het
Rhox3c C T X: 37,469,650 (GRCm38) probably benign Het
Rnf213 A G 11: 119,458,913 (GRCm38) R3867G Het
Rpap3 A G 15: 97,686,562 (GRCm38) Y334H possibly damaging Het
Scara3 A C 14: 65,931,621 (GRCm38) N182K probably damaging Het
Sh3bp1 A G 15: 78,907,249 (GRCm38) E412G possibly damaging Het
Sh3tc2 T A 18: 61,989,890 (GRCm38) I574N possibly damaging Het
Slc16a11 T C 11: 70,215,694 (GRCm38) Y253H probably damaging Het
Slc38a4 A T 15: 97,008,924 (GRCm38) V311E possibly damaging Het
Slc4a7 T C 14: 14,775,048 (GRCm38) L826P probably damaging Het
Spag9 T G 11: 94,060,259 (GRCm38) V83G Het
Sspo T G 6: 48,493,280 (GRCm38) V4560G probably benign Het
Stxbp2 T A 8: 3,634,478 (GRCm38) F144I Het
Tafa2 T C 10: 123,704,389 (GRCm38) V50A probably damaging Het
Tdh T C 14: 63,492,829 (GRCm38) I334V probably benign Het
Tesk2 C A 4: 116,802,951 (GRCm38) S451Y probably benign Het
Tjp1 A T 7: 65,312,931 (GRCm38) V1166E probably benign Het
Tmeff2 G A 1: 50,979,620 (GRCm38) V254M unknown Het
Tmem126a A G 7: 90,451,541 (GRCm38) probably null Het
Togaram2 C G 17: 71,686,704 (GRCm38) P2A probably benign Het
Tssk4 C T 14: 55,651,754 (GRCm38) R246W probably damaging Het
Tubal3 C T 13: 3,932,708 (GRCm38) R163* probably null Het
Usp48 G A 4: 137,613,685 (GRCm38) G332E probably benign Het
Vezt T C 10: 93,984,165 (GRCm38) N446S probably damaging Het
Vim A T 2: 13,574,438 (GRCm38) T3S unknown Het
Vmn2r45 A G 7: 8,471,905 (GRCm38) L708P possibly damaging Het
Yes1 A G 5: 32,652,968 (GRCm38) Y157C probably damaging Het
Zfp358 A G 8: 3,495,810 (GRCm38) T131A probably benign Het
Zfp426 C T 9: 20,475,012 (GRCm38) V58M probably damaging Het
Zfp692 T C 11: 58,307,724 (GRCm38) S47P probably damaging Het
Zfp719 A T 7: 43,590,181 (GRCm38) T398S possibly 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
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
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'- AGGCTGAGTGTGGACATCTG -3'
(R):5'- ACTGACAATGGGATTATAGCTGC -3'

Sequencing Primer
(F):5'- AGTGTGGACATCTGCTGCTCTAC -3'
(R):5'- GACAATGGGATTATAGCTGCCCTAC -3'
Posted On 2021-11-19