Incidental Mutation 'R5268:Cfap65'
ID 399847
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 042860-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R5268 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74924902 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 629 (V629A)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably benign
Transcript: ENSMUST00000094844
AA Change: V629A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: V629A

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,752,023 (GRCm38) E299G probably damaging Het
Adamtsl4 C A 3: 95,680,163 (GRCm38) R701L probably damaging Het
Adgrf5 T C 17: 43,450,999 (GRCm38) V1195A probably damaging Het
Agpat5 A G 8: 18,881,862 (GRCm38) T333A possibly damaging Het
Aspm G T 1: 139,464,295 (GRCm38) G795C probably damaging Het
Car4 C A 11: 84,965,800 (GRCm38) Q305K probably benign Het
Catsperg1 T C 7: 29,195,247 (GRCm38) N612S probably benign Het
Cdc5l G A 17: 45,415,585 (GRCm38) R354W probably damaging Het
Cdh9 G A 15: 16,851,013 (GRCm38) V623I probably benign Het
Chd1 G A 17: 15,735,743 (GRCm38) V535I probably damaging Het
Col12a1 A G 9: 79,678,047 (GRCm38) V1316A probably damaging Het
Col6a3 A T 1: 90,785,243 (GRCm38) D1721E unknown Het
Cop1 T A 1: 159,327,164 (GRCm38) F647L probably damaging Het
Corin A C 5: 72,343,019 (GRCm38) S421A probably damaging Het
Crb2 T C 2: 37,790,821 (GRCm38) V587A probably damaging Het
Ctc1 T A 11: 69,029,810 (GRCm38) V646E possibly damaging Het
Cyp2a12 A T 7: 27,031,218 (GRCm38) M203L probably benign Het
Dcdc2c T A 12: 28,516,657 (GRCm38) K336M possibly damaging Het
Ddx39a G A 8: 83,722,321 (GRCm38) R275H probably benign Het
Des A G 1: 75,362,928 (GRCm38) N310S possibly damaging Het
Dlk1 C A 12: 109,459,838 (GRCm38) S212R probably benign Het
Dnajc5b A G 3: 19,579,060 (GRCm38) E149G probably benign Het
Dpep1 A T 8: 123,194,089 (GRCm38) I3F probably benign Het
Eml6 T A 11: 29,803,108 (GRCm38) R934S probably benign Het
Ercc6l2 T C 13: 63,869,111 (GRCm38) L676P possibly damaging Het
Fkbpl G A 17: 34,645,329 (GRCm38) A24T probably benign Het
Frem2 T A 3: 53,653,154 (GRCm38) I1311F probably damaging Het
Gldc T A 19: 30,145,725 (GRCm38) M257L probably damaging Het
Gm8674 T G 13: 49,901,354 (GRCm38) noncoding transcript Het
Gnai3 C T 3: 108,123,541 (GRCm38) probably null Het
Gtf3a A G 5: 146,955,155 (GRCm38) D300G probably damaging Het
Haus3 A T 5: 34,166,105 (GRCm38) V387D probably damaging Het
Hpf1 T A 8: 60,893,734 (GRCm38) F28I possibly damaging Het
Iars1 A G 13: 49,690,491 (GRCm38) D147G probably damaging Het
Ibtk A T 9: 85,743,690 (GRCm38) D2E probably benign Het
Ift140 T A 17: 25,020,627 (GRCm38) I86K possibly damaging Het
Igf2bp2 T A 16: 22,079,491 (GRCm38) I235F probably damaging Het
Ighv3-8 G T 12: 114,322,632 (GRCm38) A30E probably benign Het
Kcnq5 T A 1: 21,505,725 (GRCm38) T252S probably damaging Het
Lrrc4b A T 7: 44,461,363 (GRCm38) N220Y probably damaging Het
Ltbr G A 6: 125,312,794 (GRCm38) R146W probably damaging Het
Mamdc4 T C 2: 25,564,690 (GRCm38) T1037A possibly damaging Het
Mbd5 A T 2: 49,272,094 (GRCm38) I863F possibly damaging Het
Muc4 T A 16: 32,751,666 (GRCm38) S515T possibly damaging Het
Mylk4 T A 13: 32,708,881 (GRCm38) probably null Het
Neu4 G A 1: 94,024,947 (GRCm38) R346H probably benign Het
Nxpe5 T A 5: 138,239,938 (GRCm38) Y253* probably null Het
Olfml2b A T 1: 170,649,761 (GRCm38) E155V probably damaging Het
Or14a258 A G 7: 86,385,659 (GRCm38) *334Q probably null Het
Or6a2 T A 7: 107,000,904 (GRCm38) N319Y probably benign Het
Or8a1b T A 9: 37,712,004 (GRCm38) I92F probably damaging Het
Pamr1 G A 2: 102,586,684 (GRCm38) A114T probably damaging Het
Pdzd2 T A 15: 12,592,177 (GRCm38) N127I probably damaging Het
Pglyrp4 C T 3: 90,726,964 (GRCm38) L5F probably damaging Het
Plce1 T A 19: 38,758,835 (GRCm38) S1667T possibly damaging Het
Qser1 A T 2: 104,787,431 (GRCm38) V1012E possibly damaging Het
R3hdm4 C T 10: 79,912,458 (GRCm38) E162K possibly damaging Het
Rcn3 A T 7: 45,086,779 (GRCm38) D168E probably damaging Het
Rdh1 T G 10: 127,759,963 (GRCm38) V9G possibly damaging Het
Rin2 A G 2: 145,844,760 (GRCm38) T70A probably benign Het
Rnf207 T C 4: 152,313,889 (GRCm38) D276G probably damaging Het
Rtel1 C T 2: 181,340,561 (GRCm38) S368L probably benign Het
Slc15a5 C A 6: 138,079,753 (GRCm38) C55F probably damaging Het
Slc36a4 T C 9: 15,726,916 (GRCm38) F213L possibly damaging Het
Snhg16 G T 11: 116,671,756 (GRCm38) M18I probably benign Het
Spata25 C T 2: 164,828,034 (GRCm38) G19D probably damaging Het
St5 A G 7: 109,557,312 (GRCm38) L77P probably benign Het
Tas2r102 A T 6: 132,762,397 (GRCm38) L89F probably damaging Het
Tbc1d1 A G 5: 64,324,567 (GRCm38) K704E probably damaging Het
Tert T G 13: 73,627,354 (GRCm38) S75A probably damaging Het
Tiparp T A 3: 65,547,565 (GRCm38) L195Q possibly damaging Het
Tmem205 A C 9: 21,926,084 (GRCm38) Y57* probably null Het
Tomm22 A G 15: 79,671,227 (GRCm38) R5G probably benign Het
Trav10 A T 14: 53,506,058 (GRCm38) S39C probably benign Het
Trav6-2 T A 14: 52,667,748 (GRCm38) N75K probably benign Het
Trio T C 15: 27,748,286 (GRCm38) S2427G probably benign Het
Ttc41 C A 10: 86,744,478 (GRCm38) H763N possibly damaging Het
Usp29 A T 7: 6,961,584 (GRCm38) N142I probably damaging Het
Vmn1r204 G T 13: 22,556,742 (GRCm38) W181L probably damaging Het
Vmn2r76 G A 7: 86,226,059 (GRCm38) T570M probably damaging Het
Wdr90 A G 17: 25,850,845 (GRCm38) L1173P probably damaging Het
Wnt9a T A 11: 59,328,570 (GRCm38) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm38) I1422L probably benign 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
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'- AGTTAGGAAATGCCCTTCAGC -3'
(R):5'- CAATATCCCTCCCATGACGG -3'

Sequencing Primer
(F):5'- GTCATCCTTGTGGCCAGAC -3'
(R):5'- TTTTTGACGGCACCAGGGAC -3'
Posted On 2016-07-06