Incidental Mutation 'IGL01803:Cfap100'
ID 155570
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 # IGL01803
Quality Score
Status
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90392717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 131 (R131L)
Ref Sequence ENSEMBL: ENSMUSP00000126515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000153843] [ENSMUST00000165673]
AlphaFold Q80VN0
Predicted Effect probably benign
Transcript: ENSMUST00000062750
SMART Domains Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794

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 probably benign
Transcript: ENSMUST00000153843
Predicted Effect probably benign
Transcript: ENSMUST00000165673
AA Change: R131L

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: R131L

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,085,541 (GRCm39) L532Q probably damaging Het
Bod1l A T 5: 41,974,732 (GRCm39) V2194D probably damaging Het
Cenpf G A 1: 189,386,968 (GRCm39) Q1771* probably null Het
Coch A T 12: 51,650,082 (GRCm39) Q357L probably benign Het
Col14a1 A G 15: 55,282,210 (GRCm39) T824A unknown Het
Dnah9 T C 11: 66,009,655 (GRCm39) Y744C probably damaging Het
Dusp13b A G 14: 21,783,907 (GRCm39) V201A probably damaging Het
Egf T A 3: 129,530,415 (GRCm39) H249L probably benign Het
Elmod1 G A 9: 53,838,764 (GRCm39) P132L probably benign Het
Eps8l2 T C 7: 140,938,143 (GRCm39) V459A probably benign Het
Fbn1 T C 2: 125,192,207 (GRCm39) D1434G probably damaging Het
Fbn1 G A 2: 125,143,645 (GRCm39) T2828I probably benign Het
Gbp9 C T 5: 105,242,039 (GRCm39) D173N probably damaging Het
Gbp9 T C 5: 105,232,884 (GRCm39) D256G probably damaging Het
Gpsm1 G A 2: 26,236,921 (GRCm39) A580T probably damaging Het
Hnrnpf T C 6: 117,884,094 (GRCm39) probably benign Het
Krt33a T C 11: 99,902,843 (GRCm39) E327G probably benign Het
M1ap T A 6: 82,982,565 (GRCm39) I283K probably benign Het
Mars2 A G 1: 55,277,155 (GRCm39) S253G probably damaging Het
Myh6 A T 14: 55,182,000 (GRCm39) M1767K probably damaging Het
Myo3a T A 2: 22,245,926 (GRCm39) D16E probably damaging Het
Pitrm1 T A 13: 6,629,471 (GRCm39) Y978N probably benign Het
Plekha6 G T 1: 133,200,152 (GRCm39) E66* probably null Het
Polk C T 13: 96,641,030 (GRCm39) V176M probably damaging Het
Pom121 G T 5: 135,410,463 (GRCm39) probably benign Het
Rnf213 T A 11: 119,332,133 (GRCm39) D2447E probably damaging Het
Sall3 T C 18: 81,013,047 (GRCm39) M1130V possibly damaging Het
Scn3a A G 2: 65,352,127 (GRCm39) probably benign Het
Sel1l A T 12: 91,797,504 (GRCm39) M241K probably benign Het
Septin4 G A 11: 87,459,075 (GRCm39) S483N probably benign Het
Ssh2 T G 11: 77,316,156 (GRCm39) L259R probably damaging Het
Tnr G T 1: 159,695,813 (GRCm39) G579W probably damaging Het
Vmn1r85 G T 7: 12,818,496 (GRCm39) A216D probably damaging Het
Vmn2r83 C A 10: 79,304,894 (GRCm39) H35N probably benign Het
Zar1l T A 5: 150,441,569 (GRCm39) Y19F probably benign 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
IGL01910:Cfap100 APN 6 90,386,606 (GRCm39) missense probably damaging 0.99
IGL02086:Cfap100 APN 6 90,390,954 (GRCm39) missense probably damaging 1.00
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 2014-02-04