Incidental Mutation 'R7094:Cfap100'
ID 550352
Institutional Source Beutler Lab
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Name cilia and flagella associated protein 100
Synonyms Ccdc37, C230069K22Rik, C030041G11Rik
MMRRC Submission 045187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7094 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90390436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 68 (E68G)
Ref Sequence ENSEMBL: ENSMUSP00000059976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000153843] [ENSMUST00000165673]
AlphaFold Q80VN0
Predicted Effect
SMART Domains Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794
AA Change: E68G

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: E222G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,610 (GRCm39) I2786F probably damaging Het
Actl6a A T 3: 32,760,487 (GRCm39) probably benign Het
Actn2 A G 13: 12,324,543 (GRCm39) V100A probably damaging Het
Arfgef3 G T 10: 18,522,187 (GRCm39) A613E probably damaging Het
Atf6b G A 17: 34,872,790 (GRCm39) probably null Het
Bub1 T A 2: 127,663,681 (GRCm39) E240V probably null Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccdc141 C A 2: 76,871,797 (GRCm39) R829L possibly damaging Het
Ccdc85c GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC GCCGCCGCCGCCAGCGCC 12: 108,240,877 (GRCm39) probably null Het
Cd209g T C 8: 4,186,790 (GRCm39) F112L possibly damaging Het
Cebpe C T 14: 54,948,060 (GRCm39) R261H probably damaging Het
Chd9 A G 8: 91,716,189 (GRCm39) N921S unknown Het
Chil6 T C 3: 106,311,486 (GRCm39) N98S probably damaging Het
Clip1 T C 5: 123,761,333 (GRCm39) K734E probably benign Het
Cracd C T 5: 77,006,879 (GRCm39) P1080L unknown Het
Cyp11b2 A G 15: 74,725,507 (GRCm39) F204S possibly damaging Het
Dnah5 A G 15: 28,453,482 (GRCm39) T4418A probably damaging Het
Dysf T C 6: 84,077,184 (GRCm39) V649A probably benign Het
Ergic3 G A 2: 155,858,683 (GRCm39) V270M possibly damaging Het
Eva1a C T 6: 82,069,024 (GRCm39) T117I probably damaging Het
Fat4 G A 3: 38,944,023 (GRCm39) G972D probably damaging Het
Gm14412 A T 2: 177,009,138 (GRCm39) N39K probably damaging Het
Gm5565 T C 5: 146,095,084 (GRCm39) T221A probably benign Het
Gnptab T G 10: 88,215,366 (GRCm39) V29G possibly damaging Het
Grem2 T C 1: 174,664,555 (GRCm39) Y98C probably damaging Het
Grik2 A T 10: 49,232,012 (GRCm39) I506N possibly damaging Het
Has2 T A 15: 56,545,017 (GRCm39) Y195F probably damaging Het
Kics2 A G 10: 121,576,098 (GRCm39) Y73C possibly damaging Het
Lars2 T C 9: 123,288,650 (GRCm39) L832P probably damaging Het
Lipo5 T A 19: 33,446,249 (GRCm39) E49D probably damaging Het
Macc1 T A 12: 119,414,126 (GRCm39) Y767* probably null Het
Map2 G T 1: 66,451,886 (GRCm39) E259* probably null Het
Mcm9 T C 10: 53,496,253 (GRCm39) D310G probably damaging Het
Mink1 C A 11: 70,500,901 (GRCm39) probably null Het
Mtrr T C 13: 68,727,803 (GRCm39) T48A possibly damaging Het
Nrsn1 A T 13: 25,437,724 (GRCm39) I68N possibly damaging Het
Or1ab2 A T 8: 72,863,347 (GRCm39) probably benign Het
Or4a71 A T 2: 89,357,902 (GRCm39) I284K probably damaging Het
Or51f23b A G 7: 102,402,305 (GRCm39) M277T probably benign Het
Or5p60 G T 7: 107,723,840 (GRCm39) T210N probably benign Het
Or8k36-ps1 T C 2: 86,437,672 (GRCm39) N81S unknown Het
Pcdh17 A G 14: 84,684,835 (GRCm39) D434G probably damaging Het
Rnf213 T A 11: 119,328,430 (GRCm39) probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sez6l2 A G 7: 126,552,096 (GRCm39) E121G probably damaging Het
Slc35e4 T C 11: 3,863,118 (GRCm39) S24G probably benign Het
Slc39a2 G T 14: 52,131,146 (GRCm39) probably benign Het
Slitrk5 C T 14: 111,918,268 (GRCm39) P631S probably benign Het
Taf2 A G 15: 54,923,482 (GRCm39) V265A probably benign Het
Tas2r106 T C 6: 131,655,542 (GRCm39) N103S probably benign Het
Tgm1 T C 14: 55,942,300 (GRCm39) T684A possibly damaging Het
Tgm7 C T 2: 120,929,489 (GRCm39) G262S probably damaging Het
Tpp2 T A 1: 44,008,148 (GRCm39) S451T probably damaging Het
Trim15 T C 17: 37,173,788 (GRCm39) Y240C probably benign Het
Trio A T 15: 27,891,534 (GRCm39) C465S unknown Het
Ttc22 G A 4: 106,493,104 (GRCm39) W250* probably null Het
Upb1 C A 10: 75,274,042 (GRCm39) F356L probably damaging Het
Vmn2r99 T A 17: 19,599,573 (GRCm39) M419K probably benign Het
Vstm2a G A 11: 16,207,990 (GRCm39) probably benign Het
Zfp820 T C 17: 22,038,246 (GRCm39) T361A 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAAGTCACTAAGTGTCCGTTGC -3'
(R):5'- TGGAACCATGAACCCTAGCC -3'

Sequencing Primer
(F):5'- ACTAAGTGTCCGTTGCAGCAC -3'
(R):5'- CAGGCCCTGATCTCAACCTATGG -3'
Posted On 2019-05-15