Incidental Mutation 'R1916:Cfap69'
ID 214849
Institutional Source Beutler Lab
Gene Symbol Cfap69
Ensembl Gene ENSMUSG00000040473
Gene Name cilia and flagella associated protein 69
Synonyms A330021E22Rik
MMRRC Submission 039934-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1916 (G1)
Quality Score 149
Status Validated
Chromosome 5
Chromosomal Location 5629284-5714232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5713970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 21 (K21E)
Ref Sequence ENSEMBL: ENSMUSP00000122569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148193] [ENSMUST00000196165] [ENSMUST00000164219]
AlphaFold Q8BH53
Predicted Effect possibly damaging
Transcript: ENSMUST00000054865
AA Change: K21E

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: K21E

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 847 860 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000061008
AA Change: K21E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: K21E

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: K21E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: K21E

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000135252
AA Change: K21E

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: K21E

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148193
Predicted Effect probably damaging
Transcript: ENSMUST00000196165
AA Change: K21E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: K21E

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 0.1137 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency 99% (97/98)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,652,924 (GRCm39) K121R possibly damaging Het
Abca13 G T 11: 9,484,456 (GRCm39) W4342L probably damaging Het
Abcg8 A T 17: 84,995,958 (GRCm39) probably null Het
Acaa1b A G 9: 118,985,730 (GRCm39) L65P probably damaging Het
Adam6a G T 12: 113,509,556 (GRCm39) R643L probably benign Het
Agbl2 A T 2: 90,645,785 (GRCm39) R839S possibly damaging Het
Ambra1 A T 2: 91,741,806 (GRCm39) N967I probably damaging Het
Ankrd17 T A 5: 90,408,000 (GRCm39) N1406Y probably damaging Het
Armh4 T C 14: 50,005,932 (GRCm39) T588A probably damaging Het
Bbx G T 16: 50,086,608 (GRCm39) S96Y probably damaging Het
Cdh12 T A 15: 21,520,336 (GRCm39) probably null Het
Cdh9 A C 15: 16,823,361 (GRCm39) R114S probably benign Het
Cenpo T G 12: 4,266,683 (GRCm39) I142L probably benign Het
Chmp4c A T 3: 10,454,996 (GRCm39) D221V probably benign Het
Cstf3 T A 2: 104,486,101 (GRCm39) V447D possibly damaging Het
Cwc22 A T 2: 77,735,819 (GRCm39) C566S probably benign Het
Dgkh A G 14: 78,832,663 (GRCm39) M798T probably damaging Het
Dnai2 T C 11: 114,623,749 (GRCm39) V4A possibly damaging Het
Dnai7 A C 6: 145,121,926 (GRCm39) V631G probably benign Het
Dnmbp T G 19: 43,890,007 (GRCm39) I587L possibly damaging Het
Dock6 A T 9: 21,724,387 (GRCm39) M301K probably damaging Het
Dock8 T C 19: 25,038,521 (GRCm39) M69T probably benign Het
Ears2 T C 7: 121,643,801 (GRCm39) S386G probably benign Het
Ecsit T C 9: 21,983,817 (GRCm39) I371V probably benign Het
Eif4a3 T C 11: 119,184,737 (GRCm39) I216V probably benign Het
Emp1 A G 6: 135,357,128 (GRCm39) I69V probably damaging Het
Epg5 A G 18: 78,008,236 (GRCm39) D788G probably benign Het
Eps15 A G 4: 109,226,171 (GRCm39) K324E probably damaging Het
Extl3 A G 14: 65,315,071 (GRCm39) F37S probably benign Het
Fam83g A G 11: 61,585,994 (GRCm39) D194G probably damaging Het
Gcc2 A G 10: 58,112,485 (GRCm39) D1005G probably damaging Het
Gm10226 T A 17: 21,910,916 (GRCm39) H50Q possibly damaging Het
Gm1110 A T 9: 26,800,934 (GRCm39) V420E probably damaging Het
Gm16503 A G 4: 147,625,667 (GRCm39) R54G unknown Het
Grin3b T C 10: 79,810,432 (GRCm39) M646T probably damaging Het
Grm8 T C 6: 27,363,583 (GRCm39) D644G probably benign Het
Gtf2i C A 5: 134,275,702 (GRCm39) V660F probably damaging Het
Heatr4 G T 12: 84,002,591 (GRCm39) Q808K probably benign Het
Hif3a T C 7: 16,773,581 (GRCm39) S573G possibly damaging Het
Htr2b C T 1: 86,027,523 (GRCm39) V328M probably damaging Het
Jph1 T C 1: 17,162,279 (GRCm39) T128A probably damaging Het
Kcnt1 T C 2: 25,790,481 (GRCm39) V481A probably damaging Het
Khk A G 5: 31,087,962 (GRCm39) Y212C probably damaging Het
Lgi2 T A 5: 52,703,974 (GRCm39) Q219L probably benign Het
Lipf T A 19: 33,943,075 (GRCm39) Y128N probably benign Het
Lipg A G 18: 75,094,008 (GRCm39) V13A probably benign Het
Lrrc8e T C 8: 4,285,202 (GRCm39) S476P probably benign Het
Map2k7 T G 8: 4,295,795 (GRCm39) V425G probably benign Het
Mycbp2 A T 14: 103,422,319 (GRCm39) S2451R probably damaging Het
Mylk3 A G 8: 86,053,821 (GRCm39) S629P probably damaging Het
Nrp2 A T 1: 62,801,906 (GRCm39) I450F probably damaging Het
Or4c126 T C 2: 89,824,148 (GRCm39) V137A probably benign Het
Or8g50 A G 9: 39,648,918 (GRCm39) D269G probably benign Het
Osbpl11 T C 16: 33,006,213 (GRCm39) S14P probably benign Het
Osbpl11 T A 16: 33,030,465 (GRCm39) V231D possibly damaging Het
Parg T A 14: 31,930,184 (GRCm39) probably benign Het
Pax9 G T 12: 56,743,923 (GRCm39) R190L possibly damaging Het
Prss12 G A 3: 123,300,144 (GRCm39) V752I probably benign Het
Pstpip2 A G 18: 77,922,892 (GRCm39) N34S probably damaging Het
Rarg T C 15: 102,160,880 (GRCm39) D53G probably benign Het
Rbak T C 5: 143,161,871 (GRCm39) K53R probably damaging Het
Scgn A T 13: 24,162,808 (GRCm39) S107R probably damaging Het
Sema3c A G 5: 17,932,399 (GRCm39) Q634R probably benign Het
Serpinh1 A G 7: 98,998,288 (GRCm39) L114P probably damaging Het
Slc35f4 T C 14: 49,541,380 (GRCm39) probably benign Het
Sned1 A T 1: 93,201,884 (GRCm39) I617F probably null Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Spen A G 4: 141,199,909 (GRCm39) L2883P probably damaging Het
Stmn3 A T 2: 180,949,073 (GRCm39) M140K possibly damaging Het
Syn3 A G 10: 86,190,208 (GRCm39) probably null Het
Tamalin T C 15: 101,124,850 (GRCm39) probably benign Het
Tor4a A G 2: 25,085,414 (GRCm39) V163A possibly damaging Het
Ttc12 A G 9: 49,371,698 (GRCm39) Y189H probably damaging Het
Ubxn7 T G 16: 32,200,577 (GRCm39) probably benign Het
Unc5b G A 10: 60,614,027 (GRCm39) T274I probably damaging Het
Upk1b C A 16: 38,596,548 (GRCm39) probably null Het
Usp18 A G 6: 121,245,513 (GRCm39) I296M probably benign Het
Usp42 A G 5: 143,700,811 (GRCm39) Y1071H probably damaging Het
Vil1 A G 1: 74,457,684 (GRCm39) T106A probably benign Het
Vmn1r42 T A 6: 89,821,949 (GRCm39) I207F probably benign Het
Vmn1r63 A G 7: 5,806,225 (GRCm39) F136L probably damaging Het
Vopp1 C T 6: 57,731,572 (GRCm39) V140I probably benign Het
Wdhd1 T C 14: 47,496,034 (GRCm39) D610G possibly damaging Het
Wdr48 T A 9: 119,741,483 (GRCm39) D142E probably benign Het
Whrn A G 4: 63,412,969 (GRCm39) Y10H probably damaging Het
Zmat3 A G 3: 32,397,497 (GRCm39) V216A probably benign Het
Zmym2 C T 14: 57,197,299 (GRCm39) R1356W probably damaging Het
Zyg11b A T 4: 108,129,480 (GRCm39) L44Q probably 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
R0690:Cfap69 UTSW 5 5,713,951 (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
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'- GACAGATTGGTTGACGACATCC -3'
(R):5'- AGAACTTTCGGGGTCTTTCTCC -3'

Sequencing Primer
(F):5'- AGATTGGTTGACGACATCCAGTCC -3'
(R):5'- TCCTCCCTAGCTCAGCAG -3'
Posted On 2014-07-14