Incidental Mutation 'IGL02086:Cfap100'
ID 285470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Name cilia and flagella associated protein 100
Synonyms Ccdc37, C230069K22Rik, C030041G11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02086
Quality Score
Status
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90390954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 8 (F8L)
Ref Sequence ENSEMBL: ENSMUSP00000059976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000153843] [ENSMUST00000165673]
AlphaFold Q80VN0
Predicted Effect probably damaging
Transcript: ENSMUST00000062750
AA Change: F8L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: F8L

DomainStartEndE-ValueType
Pfam:DUF4200 1 127 5.4e-26 PFAM
coiled coil region 242 282 N/A INTRINSIC
low complexity region 289 309 N/A INTRINSIC
coiled coil region 374 427 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000153843
AA Change: F8L
Predicted Effect unknown
Transcript: ENSMUST00000165673
AA Change: F162L
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: F162L

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
low complexity region 108 120 N/A INTRINSIC
Pfam:DUF4200 154 272 1.2e-35 PFAM
coiled coil region 396 436 N/A INTRINSIC
low complexity region 443 463 N/A INTRINSIC
coiled coil region 528 581 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Cfap100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Cfap100 APN 6 90,392,787 (GRCm39) missense probably benign 0.36
IGL01067:Cfap100 APN 6 90,383,096 (GRCm39) missense probably damaging 1.00
IGL01347:Cfap100 APN 6 90,383,103 (GRCm39) missense possibly damaging 0.65
IGL01803:Cfap100 APN 6 90,392,717 (GRCm39) missense probably benign 0.29
IGL01910:Cfap100 APN 6 90,386,606 (GRCm39) missense probably damaging 0.99
IGL02680:Cfap100 APN 6 90,389,217 (GRCm39) missense probably benign 0.03
IGL03046:Cfap100 APN 6 90,389,332 (GRCm39) splice site probably null
R0391:Cfap100 UTSW 6 90,382,321 (GRCm39) splice site probably benign
R0883:Cfap100 UTSW 6 90,392,888 (GRCm39) splice site probably benign
R1022:Cfap100 UTSW 6 90,389,986 (GRCm39) missense possibly damaging 0.50
R1024:Cfap100 UTSW 6 90,389,986 (GRCm39) missense possibly damaging 0.50
R1086:Cfap100 UTSW 6 90,380,890 (GRCm39) nonsense probably null
R1440:Cfap100 UTSW 6 90,389,166 (GRCm39) missense probably benign 0.06
R1914:Cfap100 UTSW 6 90,389,329 (GRCm39) splice site probably benign
R1915:Cfap100 UTSW 6 90,389,329 (GRCm39) splice site probably benign
R2257:Cfap100 UTSW 6 90,390,802 (GRCm39) missense possibly damaging 0.83
R4370:Cfap100 UTSW 6 90,390,376 (GRCm39) missense probably damaging 1.00
R4739:Cfap100 UTSW 6 90,389,825 (GRCm39) critical splice donor site probably null
R4895:Cfap100 UTSW 6 90,383,084 (GRCm39) missense possibly damaging 0.95
R5160:Cfap100 UTSW 6 90,390,692 (GRCm39) critical splice donor site probably null
R5983:Cfap100 UTSW 6 90,396,373 (GRCm39) intron probably benign
R6164:Cfap100 UTSW 6 90,392,768 (GRCm39) missense probably benign 0.15
R6394:Cfap100 UTSW 6 90,394,605 (GRCm39) missense possibly damaging 0.58
R6658:Cfap100 UTSW 6 90,390,400 (GRCm39) missense probably damaging 0.99
R7094:Cfap100 UTSW 6 90,390,436 (GRCm39) missense
R7254:Cfap100 UTSW 6 90,383,043 (GRCm39) missense unknown
R7922:Cfap100 UTSW 6 90,380,962 (GRCm39) missense unknown
R7983:Cfap100 UTSW 6 90,392,687 (GRCm39) missense
R8169:Cfap100 UTSW 6 90,394,656 (GRCm39) missense
R8490:Cfap100 UTSW 6 90,390,721 (GRCm39) utr 3 prime probably benign
R8835:Cfap100 UTSW 6 90,386,597 (GRCm39) missense
R9080:Cfap100 UTSW 6 90,383,183 (GRCm39) missense unknown
R9124:Cfap100 UTSW 6 90,386,330 (GRCm39) missense
R9185:Cfap100 UTSW 6 90,390,416 (GRCm39) missense
R9663:Cfap100 UTSW 6 90,386,328 (GRCm39) missense
Z1176:Cfap100 UTSW 6 90,383,132 (GRCm39) missense unknown
Posted On 2015-04-16