Incidental Mutation 'R0690:Cfap69'
ID 61330
Institutional Source Beutler Lab
Gene Symbol Cfap69
Ensembl Gene ENSMUSG00000040473
Gene Name cilia and flagella associated protein 69
Synonyms A330021E22Rik
MMRRC Submission 038875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0690 (G1)
Quality Score 84
Status Validated
Chromosome 5
Chromosomal Location 5629284-5714232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5713951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 27 (T27I)
Ref Sequence ENSEMBL: ENSMUSP00000143393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148193] [ENSMUST00000196165] [ENSMUST00000164219]
AlphaFold Q8BH53
Predicted Effect probably benign
Transcript: ENSMUST00000054865
AA Change: T27I

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: T27I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 847 860 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061008
AA Change: T27I

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: T27I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115426
SMART Domains Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115427
SMART Domains Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 2.3e-17 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 401 1.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132510
AA Change: T27I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: T27I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135252
AA Change: T27I

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: T27I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148193
Predicted Effect probably damaging
Transcript: ENSMUST00000196165
AA Change: T27I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: T27I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 676 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198121
Predicted Effect probably benign
Transcript: ENSMUST00000164219
SMART Domains Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (87/90)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit faster response kinetics and stimuli integration to olfactory stimulation and impaired olfaction a buried food pellet test with a background of the same odor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,860,634 (GRCm39) probably benign Het
Abi3 T C 11: 95,724,460 (GRCm39) probably benign Het
Adam2 T C 14: 66,295,095 (GRCm39) N250S probably damaging Het
Agbl4 T A 4: 111,514,585 (GRCm39) I532K probably benign Het
Agrn T G 4: 156,258,910 (GRCm39) E905A probably damaging Het
Ahi1 A G 10: 20,846,742 (GRCm39) probably benign Het
Aifm2 A G 10: 61,562,231 (GRCm39) N89S probably benign Het
Arsj C T 3: 126,231,833 (GRCm39) T193I probably damaging Het
Ascc2 T A 11: 4,632,933 (GRCm39) V702E probably damaging Het
Avpr1b T C 1: 131,528,019 (GRCm39) S181P probably damaging Het
Bcl7a G A 5: 123,490,003 (GRCm39) V56I possibly damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Celsr2 C A 3: 108,322,293 (GRCm39) R173M probably damaging Het
Cfap57 A G 4: 118,426,924 (GRCm39) probably benign Het
Chaf1b T C 16: 93,696,905 (GRCm39) probably benign Het
Cldn8 C T 16: 88,359,527 (GRCm39) V133M probably damaging Het
Col2a1 A T 15: 97,878,073 (GRCm39) V954E unknown Het
Col6a4 T C 9: 105,905,386 (GRCm39) probably benign Het
Col6a6 T C 9: 105,586,685 (GRCm39) M1779V probably benign Het
Coq8b A G 7: 26,941,674 (GRCm39) E253G probably benign Het
Ctse T C 1: 131,602,516 (GRCm39) probably benign Het
Cyp2c29 T A 19: 39,298,170 (GRCm39) N238K probably benign Het
Dcaf1 T A 9: 106,723,848 (GRCm39) probably benign Het
Dcc A T 18: 71,942,275 (GRCm39) probably benign Het
Dkk1 A G 19: 30,526,745 (GRCm39) F12S probably benign Het
Dnah6 A G 6: 73,106,457 (GRCm39) V1760A probably benign Het
Fam117b G A 1: 59,997,512 (GRCm39) S288N possibly damaging Het
Fam216a A T 5: 122,505,709 (GRCm39) M110K probably damaging Het
Frem3 T A 8: 81,340,581 (GRCm39) I958N possibly damaging Het
Gab1 T A 8: 81,526,745 (GRCm39) N118Y probably damaging Het
Gda T A 19: 21,387,251 (GRCm39) I251L probably benign Het
Gli2 C A 1: 118,772,190 (GRCm39) R505L probably damaging Het
Gm5093 A T 17: 46,750,664 (GRCm39) I121N possibly damaging Het
Gpnmb C T 6: 49,024,949 (GRCm39) S327L probably benign Het
Gpr156 T A 16: 37,812,503 (GRCm39) Y280N probably damaging Het
Gria4 A G 9: 4,427,071 (GRCm39) Y790H probably damaging Het
Guf1 C A 5: 69,723,695 (GRCm39) probably null Het
H6pd T C 4: 150,067,030 (GRCm39) E452G possibly damaging Het
Herc1 T A 9: 66,294,120 (GRCm39) Y487* probably null Het
Ifi30 T A 8: 71,217,593 (GRCm39) probably benign Het
Klf13 G A 7: 63,587,819 (GRCm39) A159V possibly damaging Het
Med11 T A 11: 70,344,052 (GRCm39) M124K possibly damaging Het
Myom3 A G 4: 135,515,737 (GRCm39) probably benign Het
Nat2 A T 8: 67,954,456 (GRCm39) I189F probably damaging Het
Nhlrc4 C G 17: 26,162,658 (GRCm39) G30R probably damaging Het
Nkx3-2 G A 5: 41,919,470 (GRCm39) R173C probably damaging Het
Nox3 T C 17: 3,745,839 (GRCm39) N23S probably damaging Het
Npr2 A T 4: 43,646,991 (GRCm39) Y708F probably damaging Het
Nsun2 A G 13: 69,777,661 (GRCm39) N409S probably benign Het
Nucb2 T C 7: 116,135,086 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,700 (GRCm39) F179L possibly damaging Het
Or5be3 A G 2: 86,864,226 (GRCm39) F113S probably damaging Het
Or8b12 T C 9: 37,657,513 (GRCm39) F28L probably benign Het
Orai2 A T 5: 136,190,453 (GRCm39) V52D probably damaging Het
Pcyox1 A T 6: 86,371,424 (GRCm39) M154K probably damaging Het
Pik3r4 C A 9: 105,531,175 (GRCm39) T492K possibly damaging Het
Pmpca T A 2: 26,281,109 (GRCm39) Y150N probably damaging Het
Ppp1r12b G T 1: 134,803,820 (GRCm39) S446R probably damaging Het
Ptpdc1 A G 13: 48,740,381 (GRCm39) I289T probably benign Het
Pyroxd2 A G 19: 42,716,081 (GRCm39) probably benign Het
Qrfpr G A 3: 36,243,708 (GRCm39) T131M probably damaging Het
Rab33b A G 3: 51,400,838 (GRCm39) Y104C probably damaging Het
Rad54l G T 4: 115,956,947 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,359 (GRCm39) probably null Het
Slc1a5 A T 7: 16,520,829 (GRCm39) M233L probably benign Het
Slc47a2 C T 11: 61,233,330 (GRCm39) V67I possibly damaging Het
Slco1a5 T A 6: 142,214,004 (GRCm39) Y39F probably benign Het
Slfn5 T C 11: 82,852,229 (GRCm39) V785A probably damaging Het
Sp6 C T 11: 96,912,370 (GRCm39) P28S possibly damaging Het
Sptbn5 A G 2: 119,893,156 (GRCm39) probably null Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
St8sia1 A G 6: 142,774,980 (GRCm39) W200R probably damaging Het
Stxbp1 C A 2: 32,690,707 (GRCm39) probably benign Het
Syne1 A G 10: 4,983,138 (GRCm39) probably benign Het
Thbs3 T A 3: 89,127,472 (GRCm39) I371N possibly damaging Het
Tll1 C T 8: 64,527,324 (GRCm39) S399N probably damaging Het
Tmem209 A C 6: 30,505,833 (GRCm39) C114G probably null Het
Tmem25 C T 9: 44,706,811 (GRCm39) probably benign Het
Tmem8b T C 4: 43,674,562 (GRCm39) I282T possibly damaging Het
Trdmt1 T A 2: 13,549,391 (GRCm39) H18L probably benign Het
Trim63 A G 4: 134,043,716 (GRCm39) T60A probably benign Het
Trpv2 T C 11: 62,475,502 (GRCm39) probably null Het
Ubr2 A T 17: 47,249,579 (GRCm39) I1591K probably damaging Het
Use1 A T 8: 71,819,709 (GRCm39) probably benign Het
Zfp850 A T 7: 27,684,642 (GRCm39) C35S possibly damaging Het
Other mutations in Cfap69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cfap69 APN 5 5,634,682 (GRCm39) missense probably damaging 1.00
IGL00234:Cfap69 APN 5 5,667,295 (GRCm39) missense probably benign 0.03
IGL00658:Cfap69 APN 5 5,675,857 (GRCm39) missense probably damaging 1.00
IGL00901:Cfap69 APN 5 5,669,162 (GRCm39) splice site probably benign
IGL01410:Cfap69 APN 5 5,696,979 (GRCm39) missense probably damaging 1.00
IGL01415:Cfap69 APN 5 5,696,979 (GRCm39) missense probably damaging 1.00
IGL01839:Cfap69 APN 5 5,676,027 (GRCm39) nonsense probably null
IGL01993:Cfap69 APN 5 5,631,284 (GRCm39) missense probably damaging 0.99
IGL02821:Cfap69 APN 5 5,714,017 (GRCm39) missense probably benign 0.01
IGL03212:Cfap69 APN 5 5,707,849 (GRCm39) critical splice acceptor site probably null
IGL03339:Cfap69 APN 5 5,636,436 (GRCm39) splice site probably benign
IGL03052:Cfap69 UTSW 5 5,639,206 (GRCm39) missense probably damaging 0.97
R0049:Cfap69 UTSW 5 5,663,734 (GRCm39) missense probably benign 0.45
R0049:Cfap69 UTSW 5 5,663,734 (GRCm39) missense probably benign 0.45
R0387:Cfap69 UTSW 5 5,639,303 (GRCm39) missense probably damaging 0.98
R0433:Cfap69 UTSW 5 5,699,853 (GRCm39) missense probably damaging 0.99
R0702:Cfap69 UTSW 5 5,694,465 (GRCm39) missense probably benign 0.27
R0718:Cfap69 UTSW 5 5,671,924 (GRCm39) missense probably damaging 1.00
R1525:Cfap69 UTSW 5 5,690,230 (GRCm39) splice site probably null
R1670:Cfap69 UTSW 5 5,636,409 (GRCm39) missense probably benign 0.27
R1677:Cfap69 UTSW 5 5,632,457 (GRCm39) missense probably damaging 1.00
R1857:Cfap69 UTSW 5 5,632,518 (GRCm39) missense possibly damaging 0.92
R1916:Cfap69 UTSW 5 5,713,970 (GRCm39) missense probably damaging 0.99
R1937:Cfap69 UTSW 5 5,643,818 (GRCm39) missense probably damaging 1.00
R2029:Cfap69 UTSW 5 5,654,306 (GRCm39) missense probably damaging 1.00
R2106:Cfap69 UTSW 5 5,645,979 (GRCm39) missense probably benign 0.05
R2177:Cfap69 UTSW 5 5,675,803 (GRCm39) missense probably damaging 1.00
R2261:Cfap69 UTSW 5 5,646,018 (GRCm39) missense probably damaging 0.99
R2939:Cfap69 UTSW 5 5,694,432 (GRCm39) missense probably damaging 0.99
R3706:Cfap69 UTSW 5 5,663,843 (GRCm39) nonsense probably null
R3876:Cfap69 UTSW 5 5,634,645 (GRCm39) splice site probably benign
R3893:Cfap69 UTSW 5 5,631,245 (GRCm39) missense probably damaging 1.00
R4033:Cfap69 UTSW 5 5,654,389 (GRCm39) missense possibly damaging 0.87
R4760:Cfap69 UTSW 5 5,696,939 (GRCm39) missense probably damaging 1.00
R4787:Cfap69 UTSW 5 5,696,934 (GRCm39) critical splice donor site probably null
R4932:Cfap69 UTSW 5 5,675,820 (GRCm39) missense probably damaging 1.00
R5215:Cfap69 UTSW 5 5,639,133 (GRCm39) missense possibly damaging 0.82
R5258:Cfap69 UTSW 5 5,654,271 (GRCm39) splice site probably null
R5596:Cfap69 UTSW 5 5,676,020 (GRCm39) missense probably damaging 1.00
R5673:Cfap69 UTSW 5 5,646,027 (GRCm39) missense possibly damaging 0.66
R5752:Cfap69 UTSW 5 5,639,204 (GRCm39) missense probably damaging 1.00
R5933:Cfap69 UTSW 5 5,690,183 (GRCm39) missense probably damaging 1.00
R6148:Cfap69 UTSW 5 5,713,996 (GRCm39) missense probably benign 0.03
R6511:Cfap69 UTSW 5 5,667,220 (GRCm39) missense probably damaging 0.98
R6550:Cfap69 UTSW 5 5,631,220 (GRCm39) missense probably benign 0.03
R6870:Cfap69 UTSW 5 5,671,958 (GRCm39) missense probably benign 0.26
R7455:Cfap69 UTSW 5 5,675,873 (GRCm39) missense possibly damaging 0.92
R7544:Cfap69 UTSW 5 5,645,936 (GRCm39) missense not run
R7547:Cfap69 UTSW 5 5,654,290 (GRCm39) missense possibly damaging 0.88
R7787:Cfap69 UTSW 5 5,639,260 (GRCm39) missense probably damaging 1.00
R8049:Cfap69 UTSW 5 5,669,085 (GRCm39) intron probably benign
R8110:Cfap69 UTSW 5 5,632,515 (GRCm39) missense possibly damaging 0.79
R8128:Cfap69 UTSW 5 5,646,034 (GRCm39) missense probably benign
R8306:Cfap69 UTSW 5 5,654,287 (GRCm39) missense probably benign 0.01
R9028:Cfap69 UTSW 5 5,696,958 (GRCm39) missense probably benign 0.02
R9106:Cfap69 UTSW 5 5,690,190 (GRCm39) missense possibly damaging 0.92
R9179:Cfap69 UTSW 5 5,676,064 (GRCm39) missense probably benign 0.30
R9199:Cfap69 UTSW 5 5,668,952 (GRCm39) missense possibly damaging 0.87
R9422:Cfap69 UTSW 5 5,699,851 (GRCm39) missense probably benign 0.00
R9585:Cfap69 UTSW 5 5,631,269 (GRCm39) missense possibly damaging 0.52
R9617:Cfap69 UTSW 5 5,639,164 (GRCm39) missense probably damaging 1.00
R9674:Cfap69 UTSW 5 5,697,021 (GRCm39) missense possibly damaging 0.68
R9697:Cfap69 UTSW 5 5,676,041 (GRCm39) missense possibly damaging 0.60
X0010:Cfap69 UTSW 5 5,694,503 (GRCm39) splice site probably null
Z1177:Cfap69 UTSW 5 5,636,384 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATGAGAACCACGCAGCTAGAGTCC -3'
(R):5'- TAGCTCAGCAGCGTGTTTTCTGCC -3'

Sequencing Primer
(F):5'- AGTCCCCAGACAGATTGGTTG -3'
(R):5'- TTTTCTGCCAGGGCTCG -3'
Posted On 2013-07-30