Incidental Mutation 'R8490:Cfap100'
ID 657949
Institutional Source Beutler Lab
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 # R8490 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 90390721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000153843] [ENSMUST00000165673]
AlphaFold Q80VN0
Predicted Effect
SMART Domains Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: D57G

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
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: D211G

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
Meta Mutation Damage Score 0.2726 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,323,256 (GRCm39) K1609Q probably damaging Het
Arl5a A G 2: 52,314,614 (GRCm39) F12L probably benign Het
Armc9 C T 1: 86,202,125 (GRCm39) T761I probably benign Het
Bmp1 A G 14: 70,727,573 (GRCm39) F670S possibly damaging Het
Cd34 T C 1: 194,621,281 (GRCm39) V3A probably benign Het
Cdkn2a A T 4: 89,212,759 (GRCm39) M1K probably null Het
Cep135 C A 5: 76,786,054 (GRCm39) H1052Q probably benign Het
Cib4 A T 5: 30,703,075 (GRCm39) Y17N probably damaging Het
Col3a1 T G 1: 45,385,116 (GRCm39) S78A probably benign Het
Crebzf A G 7: 90,092,706 (GRCm39) M162V probably benign Het
Dbx2 T A 15: 95,552,454 (GRCm39) M64L possibly damaging Het
Epb41l2 A T 10: 25,380,128 (GRCm39) T884S probably damaging Het
Erich3 T A 3: 154,401,461 (GRCm39) S37T Het
Eya1 G T 1: 14,254,899 (GRCm39) Q383K possibly damaging Het
Gm15130 A T 2: 110,983,230 (GRCm39) probably null Het
Ido1 A T 8: 25,086,954 (GRCm39) M1K probably null Het
Loxhd1 C T 18: 77,529,162 (GRCm39) T1069M possibly damaging Het
Lrrtm2 T G 18: 35,346,451 (GRCm39) probably null Het
Map1a C T 2: 121,135,045 (GRCm39) H1716Y possibly damaging Het
Mycbp2 T A 14: 103,446,267 (GRCm39) T1854S probably benign Het
Myh13 T C 11: 67,255,351 (GRCm39) S1574P probably damaging Het
Neu1 G A 17: 35,150,982 (GRCm39) A78T probably benign Het
Nfam1 T C 15: 82,907,238 (GRCm39) probably benign Het
Or1e27-ps1 T A 11: 73,555,675 (GRCm39) L80Q probably damaging Het
Or4c10b A C 2: 89,711,511 (GRCm39) T114P probably damaging Het
Or8k33 A T 2: 86,384,027 (GRCm39) M147K probably benign Het
Pdgfra T C 5: 75,331,329 (GRCm39) probably null Het
Ptgfrn A T 3: 100,963,686 (GRCm39) M642K probably damaging Het
R3hdm1 T A 1: 128,162,864 (GRCm39) H980Q probably benign Het
Rfc2 C A 5: 134,611,698 (GRCm39) S19* probably null Het
Rhbdf1 C A 11: 32,160,162 (GRCm39) S738I probably damaging Het
Rif1 T A 2: 52,001,011 (GRCm39) N1488K probably damaging Het
Rnf31 G A 14: 55,833,566 (GRCm39) V525I probably damaging Het
Rps27a T C 11: 29,496,719 (GRCm39) D58G probably benign Het
Serpinc1 T G 1: 160,817,028 (GRCm39) C41G probably damaging Het
Siglece A T 7: 43,309,486 (GRCm39) V24D probably benign Het
Sparcl1 T A 5: 104,233,574 (GRCm39) R592W probably null Het
Stard13 A G 5: 150,987,090 (GRCm39) S104P probably damaging Het
Ston2 A G 12: 91,614,905 (GRCm39) V501A possibly damaging Het
Sv2b C A 7: 74,855,833 (GRCm39) probably null Het
Tiam1 T C 16: 89,681,932 (GRCm39) R349G probably damaging Het
Tmprss11g A G 5: 86,639,976 (GRCm39) probably null Het
Tnik G T 3: 28,650,321 (GRCm39) R507L probably damaging Het
Trabd2b G T 4: 114,460,113 (GRCm39) S417I probably damaging Het
Ube2q1 T A 3: 89,681,308 (GRCm39) V97E probably benign Het
Vim A T 2: 13,584,265 (GRCm39) N306Y probably damaging Het
Vmn1r216 G T 13: 23,283,979 (GRCm39) A221S possibly damaging Het
Vmn2r113 G A 17: 23,177,372 (GRCm39) A719T probably benign Het
Vmn2r66 A G 7: 84,654,794 (GRCm39) probably null Het
Vps45 T C 3: 95,948,661 (GRCm39) S365G probably benign Het
Zzz3 T A 3: 152,134,290 (GRCm39) C449* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AACCAGGAGGCCAATCATG -3'
(R):5'- TAGCTTGGTTCTGGCTCAGC -3'

Sequencing Primer
(F):5'- AAGAAGCCGTGGCCTTAGC -3'
(R):5'- TCAGCCAGGTGCCCTCATG -3'
Posted On 2021-01-18