Incidental Mutation 'R6861:Cfap65'
ID 535486
Institutional Source Beutler Lab
Gene Symbol Cfap65
Ensembl Gene ENSMUSG00000047021
Gene Name cilia and flagella associated protein 65
Synonyms Ccdc108, B230363K08Rik
MMRRC Submission 044962-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R6861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74902071-74935599 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74925115 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 558 (I558N)
Ref Sequence ENSEMBL: ENSMUSP00000092440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094844]
AlphaFold Q3V0B4
Predicted Effect probably damaging
Transcript: ENSMUST00000094844
AA Change: I558N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: I558N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A G 7: 118,743,675 (GRCm38) H32R probably damaging Het
Adamtsl4 G A 3: 95,680,884 (GRCm38) R598C probably damaging Het
Adra2a T C 19: 54,046,387 (GRCm38) L58P probably damaging Het
Alox5ap A G 5: 149,265,117 (GRCm38) D2G probably damaging Het
Arid1b G A 17: 5,327,686 (GRCm38) V1238M possibly damaging Het
Bank1 A G 3: 136,255,003 (GRCm38) V31A probably benign Het
Bptf G A 11: 107,062,565 (GRCm38) T2117M probably damaging Het
Cadps G A 14: 12,522,401 (GRCm38) R588* probably null Het
Cavin4 A G 4: 48,672,214 (GRCm38) I220V probably benign Het
Cep192 G A 18: 67,841,628 (GRCm38) M1267I probably benign Het
Cers5 G A 15: 99,772,363 (GRCm38) probably benign Het
Cfh A T 1: 140,100,883 (GRCm38) S1025T probably benign Het
Cftr A G 6: 18,268,108 (GRCm38) I689V probably benign Het
Cgrrf1 T C 14: 46,832,328 (GRCm38) I18T probably damaging Het
CK137956 A G 4: 127,970,726 (GRCm38) S37P probably damaging Het
Clca4a T C 3: 144,970,655 (GRCm38) D88G probably benign Het
Col11a1 G A 3: 114,167,492 (GRCm38) G1166D probably damaging Het
Col24a1 G A 3: 145,460,834 (GRCm38) G1075S probably damaging Het
Crispld2 C T 8: 120,026,113 (GRCm38) T299M probably damaging Het
Cyb561a3 T A 19: 10,585,337 (GRCm38) Y114N probably damaging Het
Cyp3a57 T A 5: 145,370,963 (GRCm38) W147R possibly damaging Het
Dnah2 C A 11: 69,455,963 (GRCm38) R2599L possibly damaging Het
Dock1 T A 7: 134,771,478 (GRCm38) S525T probably benign Het
Drc7 T G 8: 95,062,397 (GRCm38) probably null Het
Efhd2 G T 4: 141,859,881 (GRCm38) probably null Het
Epb41l1 A T 2: 156,525,222 (GRCm38) E658D probably benign Het
Evi5 C T 5: 107,748,318 (GRCm38) S753N probably benign Het
Exoc3 A T 13: 74,189,200 (GRCm38) D427E probably benign Het
Fbxw9 A G 8: 85,066,111 (GRCm38) D363G probably damaging Het
Fcer2a T C 8: 3,682,910 (GRCm38) Y277C probably damaging Het
Fstl5 A T 3: 76,322,216 (GRCm38) Y108F probably damaging Het
Gcn1l1 A G 5: 115,611,049 (GRCm38) D1880G probably benign Het
Gm4924 T A 10: 82,379,114 (GRCm38) Y915* probably null Het
Gm996 C CTCTA 2: 25,579,721 (GRCm38) probably null Het
Gpr139 T A 7: 119,144,652 (GRCm38) I237F probably benign Het
Hao2 A G 3: 98,877,182 (GRCm38) L289S probably damaging Het
Hexim1 A G 11: 103,116,967 (GRCm38) S16G probably benign Het
Hmgcs1 T A 13: 119,699,999 (GRCm38) M109K probably damaging Het
Hs3st4 T A 7: 124,396,829 (GRCm38) N239K possibly damaging Het
Hsd3b5 T A 3: 98,622,012 (GRCm38) N101Y probably damaging Het
Idh2 G A 7: 80,098,218 (GRCm38) P245S probably damaging Het
Irx3 A G 8: 91,798,902 (GRCm38) probably benign Het
Lilra5 A T 7: 4,241,932 (GRCm38) D234V probably benign Het
Lrfn5 G A 12: 61,839,690 (GRCm38) S88N probably damaging Het
Lrp2 A T 2: 69,513,377 (GRCm38) S879R possibly damaging Het
Lsm11 A G 11: 45,933,954 (GRCm38) S249P probably benign Het
Ltbp1 C T 17: 75,227,192 (GRCm38) A543V possibly damaging Het
Mbd1 GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,273,574 (GRCm38) Het
Mier2 C T 10: 79,541,156 (GRCm38) probably benign Het
Mup6 G C 4: 60,004,093 (GRCm38) G70A probably benign Het
Neb A G 2: 52,195,720 (GRCm38) L5258P probably damaging Het
Nlrc5 G A 8: 94,521,229 (GRCm38) probably benign Het
Nr6a1 A T 2: 38,740,585 (GRCm38) F207I possibly damaging Het
Olfr1385 A T 11: 49,494,805 (GRCm38) T91S probably benign Het
Olfr181 A T 16: 58,926,504 (GRCm38) D22E probably benign Het
Olfr902 T C 9: 38,449,435 (GRCm38) C188R probably damaging Het
Osbp2 A G 11: 3,715,191 (GRCm38) V51A possibly damaging Het
Papln G T 12: 83,774,949 (GRCm38) C317F probably damaging Het
Pdcd7 T C 9: 65,358,622 (GRCm38) S454P probably damaging Het
Pde4a C T 9: 21,205,301 (GRCm38) T473I probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm38) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm38) probably benign Het
Peg3 G T 7: 6,711,386 (GRCm38) S279* probably null Het
Rbl1 A G 2: 157,152,967 (GRCm38) Y929H probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,579,909 (GRCm38) probably benign Het
Sall3 C A 18: 80,974,375 (GRCm38) E113* probably null Het
Scn5a A C 9: 119,530,023 (GRCm38) F653V probably damaging Het
Selenok T A 14: 29,970,048 (GRCm38) N14K possibly damaging Het
Slc22a20 T C 19: 5,971,810 (GRCm38) T426A probably benign Het
Slc4a2 T A 5: 24,435,009 (GRCm38) S563T probably damaging Het
Sspo T A 6: 48,487,955 (GRCm38) S3798T probably benign Het
Stag3 G T 5: 138,304,707 (GRCm38) R63L possibly damaging Het
Stard9 A T 2: 120,705,186 (GRCm38) M3975L probably benign Het
Syne2 C A 12: 75,909,266 (GRCm38) T582K probably damaging Het
Synj1 G A 16: 90,963,880 (GRCm38) Q748* probably null Het
Tas2r109 T C 6: 132,980,085 (GRCm38) D294G probably benign Het
Tbl1xr1 T A 3: 22,191,539 (GRCm38) probably null Het
Tbl1xr1 C T 3: 22,191,439 (GRCm38) T203M possibly damaging Het
Tcf7l2 A G 19: 55,742,523 (GRCm38) D19G probably damaging Het
Tecta A G 9: 42,337,337 (GRCm38) V1923A possibly damaging Het
Tg T A 15: 66,688,891 (GRCm38) M1034K probably benign Het
Ttf2 T C 3: 100,969,625 (GRCm38) E8G possibly damaging Het
Vps13b T A 15: 35,576,395 (GRCm38) V983E probably damaging Het
Vwa2 T C 19: 56,901,593 (GRCm38) V210A probably benign Het
Xkr6 T A 14: 63,819,644 (GRCm38) Y335N probably benign Het
Zfp97 A G 17: 17,145,175 (GRCm38) H312R 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
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
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'- CACGGTGATCTTGCCTTTGG -3'
(R):5'- CATTGAGGTATGTGAGATGCCAG -3'

Sequencing Primer
(F):5'- TGGTATAGTTCCTCAGGCATAAAGG -3'
(R):5'- TCCCTTGCAAGTCACTGAGTAGG -3'
Posted On 2018-09-12