Incidental Mutation 'R2029:Cfap69'
ID 220931
Institutional Source Beutler Lab
Gene Symbol Cfap69
Ensembl Gene ENSMUSG00000040473
Gene Name cilia and flagella associated protein 69
Synonyms A330021E22Rik
MMRRC Submission 040036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2029 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 5629284-5714232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5654306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 543 (S543P)
Ref Sequence ENSEMBL: ENSMUSP00000117518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148347] [ENSMUST00000196165]
AlphaFold Q8BH53
Predicted Effect probably damaging
Transcript: ENSMUST00000054865
AA Change: S543P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: S543P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 847 860 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061008
AA Change: S486P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: S486P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132510
SMART Domains Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135252
AA Change: S543P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: S543P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148347
AA Change: S125P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473
AA Change: S125P

DomainStartEndE-ValueType
low complexity region 383 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196165
SMART Domains Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 676 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199314
Meta Mutation Damage Score 0.2864 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (97/99)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C G 8: 25,140,893 (GRCm39) G286A probably damaging Het
Adcy1 G A 11: 7,089,142 (GRCm39) A519T probably benign Het
Anxa2 T A 9: 69,371,762 (GRCm39) S2T possibly damaging Het
Ap3m1 G A 14: 21,089,217 (GRCm39) S261L possibly damaging Het
Baz2b A T 2: 59,743,067 (GRCm39) probably benign Het
Brdt T A 5: 107,507,090 (GRCm39) S497T probably benign Het
Cdh11 A G 8: 103,406,404 (GRCm39) F23S probably benign Het
Cdh16 A C 8: 105,344,434 (GRCm39) L540R probably damaging Het
Ces5a A T 8: 94,261,205 (GRCm39) L74Q probably damaging Het
Cfap74 T C 4: 155,526,538 (GRCm39) I763T possibly damaging Het
Cma1 T A 14: 56,181,191 (GRCm39) R58S possibly damaging Het
Csmd3 C T 15: 47,701,975 (GRCm39) D1599N probably damaging Het
Cyld A G 8: 89,471,940 (GRCm39) K857R probably benign Het
Cyp3a16 T C 5: 145,388,667 (GRCm39) D270G probably damaging Het
D1Pas1 T C 1: 186,700,286 (GRCm39) S72P possibly damaging Het
Ddx3y T C Y: 1,266,389 (GRCm39) E331G probably benign Het
Degs1l T A 1: 180,882,496 (GRCm39) I86K probably benign Het
Dis3l2 T C 1: 86,782,189 (GRCm39) probably benign Het
Dop1a G T 9: 86,403,418 (GRCm39) W1539C probably damaging Het
Dop1b A G 16: 93,566,323 (GRCm39) K917E probably benign Het
Ecpas G A 4: 58,844,165 (GRCm39) R534* probably null Het
Efcab3 T C 11: 104,990,851 (GRCm39) I5462T probably damaging Het
Eif1ad15 A T 12: 88,288,191 (GRCm39) S21T unknown Het
Epo A G 5: 137,483,447 (GRCm39) probably benign Het
Figla T A 6: 85,997,624 (GRCm39) probably benign Het
Flvcr1 T C 1: 190,753,353 (GRCm39) D273G probably benign Het
Fryl T A 5: 73,179,465 (GRCm39) R304* probably null Het
Gcm1 T G 9: 77,972,326 (GRCm39) D422E possibly damaging Het
Get3 A T 8: 85,746,403 (GRCm39) Y148* probably null Het
Ggt6 A G 11: 72,328,367 (GRCm39) D251G possibly damaging Het
Git2 A G 5: 114,904,511 (GRCm39) probably null Het
Gm18856 A T 13: 14,139,376 (GRCm39) probably benign Het
Gm20939 T A 17: 95,183,252 (GRCm39) probably benign Het
Gpr176 A G 2: 118,109,913 (GRCm39) Y449H probably benign Het
H2-Eb1 A G 17: 34,533,366 (GRCm39) E196G probably damaging Het
H2-M10.6 A G 17: 37,124,799 (GRCm39) T239A possibly damaging Het
Haus5 T C 7: 30,358,825 (GRCm39) N237S possibly damaging Het
Hectd3 T C 4: 116,857,882 (GRCm39) M605T probably damaging Het
Hps3 T C 3: 20,084,691 (GRCm39) I166V probably benign Het
Ighv5-21 A T 12: 114,286,434 (GRCm39) probably benign Het
Kdm6b C T 11: 69,294,418 (GRCm39) G1218D unknown Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Kmt2a A T 9: 44,729,747 (GRCm39) S3523R probably benign Het
Lnpep A T 17: 17,788,661 (GRCm39) N481K probably damaging Het
Lrp1b T C 2: 41,231,861 (GRCm39) H1203R probably benign Het
Lrrc8a C T 2: 30,146,661 (GRCm39) R492W probably damaging Het
Magel2 T A 7: 62,030,342 (GRCm39) V1082D unknown Het
Memo1 A C 17: 74,552,049 (GRCm39) H82Q probably null Het
Myh13 A T 11: 67,252,115 (GRCm39) T1408S probably benign Het
Myh2 A T 11: 67,085,451 (GRCm39) N1792Y possibly damaging Het
Myo1e A T 9: 70,275,969 (GRCm39) N728I possibly damaging Het
Myo1e T C 9: 70,285,997 (GRCm39) probably benign Het
Myo5c T C 9: 75,196,337 (GRCm39) probably benign Het
Or11l3 T A 11: 58,516,319 (GRCm39) L184F probably damaging Het
Or1e19 A G 11: 73,316,188 (GRCm39) V207A probably benign Het
Or2d2b T C 7: 106,705,643 (GRCm39) I142V probably benign Het
Or4c11c T A 2: 88,661,749 (GRCm39) M96K possibly damaging Het
Or51g1 T A 7: 102,633,478 (GRCm39) T298S probably damaging Het
Or52e3 T C 7: 102,868,967 (GRCm39) F14S probably damaging Het
Parp2 C T 14: 51,047,543 (GRCm39) A18V probably benign Het
Peli1 T A 11: 21,098,110 (GRCm39) C282S probably damaging Het
Phf8-ps G T 17: 33,286,598 (GRCm39) S68* probably null Het
Piezo2 T C 18: 63,252,006 (GRCm39) M404V possibly damaging Het
Pkn1 T A 8: 84,404,592 (GRCm39) Q496L possibly damaging Het
Pla2r1 A T 2: 60,262,317 (GRCm39) F1093L probably damaging Het
Ppp2r3d A G 9: 101,022,680 (GRCm39) V323A probably damaging Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prg2 C T 2: 84,812,342 (GRCm39) probably benign Het
Ptprb G A 10: 116,182,958 (GRCm39) G1545S probably benign Het
Rbm19 A G 5: 120,258,307 (GRCm39) D174G possibly damaging Het
Rhbdf2 T A 11: 116,491,974 (GRCm39) T526S probably damaging Het
Rpusd4 A G 9: 35,179,310 (GRCm39) N42S probably benign Het
Ryr3 T A 2: 112,477,361 (GRCm39) Q4455L possibly damaging Het
Sema4a G T 3: 88,358,668 (GRCm39) H30Q probably damaging Het
Skint1 G A 4: 111,878,653 (GRCm39) probably null Het
Slc1a3 A G 15: 8,675,153 (GRCm39) V284A probably benign Het
Slc30a9 A T 5: 67,497,318 (GRCm39) K288* probably null Het
Slc36a1 G T 11: 55,119,164 (GRCm39) A380S probably benign Het
Slc47a1 G A 11: 61,268,833 (GRCm39) probably benign Het
Snx19 A T 9: 30,340,296 (GRCm39) E478V probably benign Het
Spag6 T C 2: 18,738,916 (GRCm39) probably benign Het
Stag1 A T 9: 100,668,740 (GRCm39) T223S probably damaging Het
Terb1 A T 8: 105,224,732 (GRCm39) probably benign Het
Terf1 A G 1: 15,876,170 (GRCm39) D90G possibly damaging Het
Tex15 A G 8: 34,061,302 (GRCm39) D518G probably damaging Het
Tmem174 T A 13: 98,773,546 (GRCm39) M95L possibly damaging Het
Tnnt3 GTCCAGGCATCTC GTC 7: 142,066,364 (GRCm39) probably benign Het
Usp28 A G 9: 48,896,803 (GRCm39) D8G probably benign Het
Vmn2r105 T C 17: 20,444,840 (GRCm39) T551A probably damaging Het
Vmn2r107 A G 17: 20,595,549 (GRCm39) I701V probably benign Het
Vmn2r13 A C 5: 109,339,943 (GRCm39) F11V probably benign Het
Vmn2r85 G C 10: 130,261,443 (GRCm39) S298* probably null Het
Wdr6 C G 9: 108,452,554 (GRCm39) W443S probably damaging Het
Wipi1 A G 11: 109,474,016 (GRCm39) V210A probably damaging Het
Zfp317 A G 9: 19,556,532 (GRCm39) T47A probably benign Het
Zfp61 T C 7: 23,991,714 (GRCm39) T146A probably benign Het
Zfp964 A G 8: 70,116,567 (GRCm39) E389G unknown Het
Zfyve16 T C 13: 92,640,985 (GRCm39) D1253G probably damaging Het
Zpld2 T C 4: 133,929,669 (GRCm39) K212R possibly damaging Het
Zswim7 G A 11: 62,158,299 (GRCm39) probably benign 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
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
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'- GCAGGTTGCTAGGCTTAGTC -3'
(R):5'- AGTCATGGCACCTGGTAGAG -3'

Sequencing Primer
(F):5'- CCAAGTGTGTTTAAATGCGGAGTC -3'
(R):5'- GTGGGCTAGAATGTGAAAACTCTTCC -3'
Posted On 2014-08-25