Incidental Mutation 'R7983:Cfap100'
ID 651313
Institutional Source Beutler Lab
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Name cilia and flagella associated protein 100
Synonyms Ccdc37, C230069K22Rik, C030041G11Rik
MMRRC Submission 046024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7983 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90392687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 141 (T141I)
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
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: T141I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (39/41)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casd1 G T 6: 4,624,472 (GRCm39) E422* probably null Het
Ccdc7a T C 8: 129,607,559 (GRCm39) T1007A possibly damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cds2 T G 2: 132,105,430 (GRCm39) probably null Het
Chd7 T A 4: 8,752,628 (GRCm39) M375K unknown Het
Chd7 T A 4: 8,844,609 (GRCm39) S1573T possibly damaging Het
Cplane1 T A 15: 8,251,299 (GRCm39) V1857E probably benign Het
Crybb2 T C 5: 113,209,946 (GRCm39) E139G probably benign Het
Csn2 T C 5: 87,842,356 (GRCm39) T224A probably benign Het
Csnk2b T C 17: 35,335,304 (GRCm39) H231R possibly damaging Het
Cthrc1 A G 15: 38,940,550 (GRCm39) D51G probably benign Het
Cyp2a5 A T 7: 26,539,866 (GRCm39) T305S probably benign Het
Cyp4a29 A T 4: 115,108,099 (GRCm39) D307V probably damaging Het
Dhrs7b T C 11: 60,743,287 (GRCm39) V188A possibly damaging Het
Dna2 A G 10: 62,791,173 (GRCm39) D224G probably benign Het
Dnah7b T A 1: 46,282,584 (GRCm39) L2906M probably damaging Het
Eif4g3 A T 4: 137,878,904 (GRCm39) E545D probably benign Het
Foxq1 T C 13: 31,743,972 (GRCm39) F358S possibly damaging Het
Galnt16 C T 12: 80,648,598 (GRCm39) H557Y probably benign Het
Kcnb2 T C 1: 15,383,004 (GRCm39) M110T probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Nalcn T C 14: 123,830,409 (GRCm39) I144V probably benign Het
Napsa T A 7: 44,234,751 (GRCm39) N295K possibly damaging Het
Nup50l C A 6: 96,142,888 (GRCm39) G52V probably damaging Het
Or2ag20 T C 7: 106,464,958 (GRCm39) V257A probably benign Het
Or5k1b G A 16: 58,581,377 (GRCm39) S54F probably benign Het
Plch1 T C 3: 63,615,164 (GRCm39) D778G probably damaging Het
Pnlip G A 19: 58,668,491 (GRCm39) V361I probably benign Het
Pou4f2 G T 8: 79,161,568 (GRCm39) A345E probably benign Het
Prr11 C T 11: 86,982,637 (GRCm39) D365N possibly damaging Het
Ptprq G T 10: 107,444,272 (GRCm39) S1444* probably null Het
R3hdm4 A T 10: 79,748,557 (GRCm39) V129E probably damaging Het
Retnlg T C 16: 48,693,261 (GRCm39) S13P probably damaging Het
Rgmb T C 17: 16,041,189 (GRCm39) T133A possibly damaging Het
Rin3 A C 12: 102,335,418 (GRCm39) H443P probably benign Het
Rnf152 T C 1: 105,212,089 (GRCm39) D156G probably benign Het
Sfmbt1 A G 14: 30,519,673 (GRCm39) probably null Het
Slc25a46 G A 18: 31,716,483 (GRCm39) R340C probably damaging Het
Sp4 A T 12: 118,264,967 (GRCm39) M1K probably null Het
Ss18l2 T C 9: 121,541,675 (GRCm39) I64T probably damaging Het
Sult2a4 G A 7: 13,649,152 (GRCm39) S219F probably damaging Het
Tnip3 A C 6: 65,515,630 (GRCm39) D25A probably damaging Het
Trac A G 14: 54,458,214 (GRCm39) T79A Het
Vmn2r36 A G 7: 7,905,415 (GRCm39) L16P probably damaging Het
Zswim2 A G 2: 83,753,911 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- AAGCCTCTATGAGCTGAGCC -3'
(R):5'- GTCCCACTGACTGCACATCATC -3'

Sequencing Primer
(F):5'- TGAGCCAGCCTCTACCC -3'
(R):5'- TCCCCAAAGGAGCGTGAAC -3'
Posted On 2020-09-15