Incidental Mutation 'IGL02821:Cfap69'
ID 361021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap69
Ensembl Gene ENSMUSG00000040473
Gene Name cilia and flagella associated protein 69
Synonyms A330021E22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02821
Quality Score
Status
Chromosome 5
Chromosomal Location 5629284-5714232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5714017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 5 (E5G)
Ref Sequence ENSEMBL: ENSMUSP00000143393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000196165] [ENSMUST00000164219] [ENSMUST00000148193]
AlphaFold Q8BH53
Predicted Effect unknown
Transcript: ENSMUST00000054865
AA Change: E5G
SMART Domains Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: E5G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 847 860 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000061008
AA Change: E5G
SMART Domains Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: E5G

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 unknown
Transcript: ENSMUST00000132510
AA Change: E5G
SMART Domains Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: E5G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135252
AA Change: E5G
SMART Domains Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: E5G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198121
Predicted Effect probably benign
Transcript: ENSMUST00000196165
AA Change: E5G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: E5G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 676 689 N/A INTRINSIC
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
Predicted Effect probably benign
Transcript: ENSMUST00000148193
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P 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
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
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
Posted On 2015-12-18