Incidental Mutation 'R6394:Cfap100'
ID515931
Institutional Source Beutler Lab
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Namecilia and flagella associated protein 100
SynonymsC030041G11Rik, C230069K22Rik, Ccdc37
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #R6394 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location90403479-90428797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 90417623 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 74 (N74I)
Ref Sequence ENSEMBL: ENSMUSP00000126515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000127508] [ENSMUST00000134224] [ENSMUST00000153843] [ENSMUST00000165673]
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: ENSMUST00000127508
Predicted Effect probably benign
Transcript: ENSMUST00000134224
Predicted Effect probably benign
Transcript: ENSMUST00000153843
Predicted Effect possibly damaging
Transcript: ENSMUST00000165673
AA Change: N74I

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: N74I

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: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik A T 6: 40,921,792 L174* probably null Het
Akap11 A T 14: 78,522,589 probably null Het
Alpi T A 1: 87,100,706 Y154F possibly damaging Het
Als2 A T 1: 59,167,197 F1635I probably damaging Het
Anxa1 C T 19: 20,383,849 V60M probably damaging Het
Atp10b A G 11: 43,225,637 Y937C probably damaging Het
Brd4 C A 17: 32,224,147 E167* probably null Het
Cacna1h G A 17: 25,387,481 T1048I probably benign Het
Ccdc113 A G 8: 95,557,192 D298G probably benign Het
Chd8 A T 14: 52,202,585 H4Q possibly damaging Het
Clcn1 A G 6: 42,307,590 T621A possibly damaging Het
Clcn1 A G 6: 42,313,238 T843A possibly damaging Het
Clcn3 C T 8: 60,941,291 R68Q probably damaging Het
Dcaf13 T A 15: 39,143,737 N355K probably benign Het
Dnah6 A T 6: 73,155,418 C1100* probably null Het
Dync2h1 A T 9: 7,168,331 V428E probably damaging Het
E230025N22Rik T C 18: 36,686,786 E317G probably damaging Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Evc2 C A 5: 37,378,275 D431E probably damaging Het
Gcm2 T G 13: 41,109,897 T20P probably damaging Het
Gdf9 A G 11: 53,436,697 Y160C probably damaging Het
Gm8220 A G 14: 44,285,677 probably benign Het
Gm9573 A T 17: 35,620,166 probably benign Het
Gpalpp1 A T 14: 76,107,412 S44T possibly damaging Het
Grip2 T C 6: 91,787,201 Y134C probably damaging Het
Hephl1 A G 9: 15,074,101 F753S probably benign Het
Herc1 A G 9: 66,395,059 T727A probably damaging Het
Herc2 A G 7: 56,215,981 E4232G probably damaging Het
Ifi207 A G 1: 173,729,015 L726P probably benign Het
Itga11 T A 9: 62,735,266 probably null Het
Jrkl A C 9: 13,245,490 Y55* probably null Het
Kif13a C T 13: 46,752,455 V671M possibly damaging Het
Kif18b A G 11: 102,914,410 V303A probably damaging Het
Klhl29 A T 12: 5,094,830 C423* probably null Het
Klhl29 T C 12: 5,137,720 S215G probably benign Het
Lamp5 A G 2: 136,061,009 D216G possibly damaging Het
Leo1 T A 9: 75,445,470 D98E probably benign Het
Map3k3 T C 11: 106,148,883 V283A probably benign Het
Med12l A G 3: 59,235,087 K902E probably damaging Het
Mmp1b C A 9: 7,386,316 D202Y probably benign Het
Olfr1201 C T 2: 88,794,952 T190I probably benign Het
Olfr239 G A 17: 33,199,513 G155D probably damaging Het
Olfr488 C T 7: 108,255,763 R125H possibly damaging Het
Olfr657 T A 7: 104,635,702 N9K possibly damaging Het
Olfr657 T C 7: 104,636,027 S118P possibly damaging Het
Olfr816 G T 10: 129,911,920 D119E probably damaging Het
Olfr979 T C 9: 40,000,705 Q174R probably benign Het
Onecut3 A G 10: 80,496,013 I336V probably damaging Het
Oprl1 C T 2: 181,719,002 R257C probably damaging Het
Osbpl6 T C 2: 76,555,954 V207A probably benign Het
Pde3a A T 6: 141,487,511 H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 probably benign Het
Phyh A G 2: 4,936,003 D238G probably benign Het
Pnliprp2 T A 19: 58,761,598 N92K probably benign Het
Pole3 T C 4: 62,524,026 probably benign Het
Ppm1d T C 11: 85,339,672 V372A probably benign Het
Prpf40a A T 2: 53,144,878 I766N probably damaging Het
Prr5 T A 15: 84,699,724 V175E probably damaging Het
Ptprq T A 10: 107,642,943 K1280* probably null Het
Rbp2 T A 9: 98,507,820 V95E possibly damaging Het
Rictor T C 15: 6,769,309 F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Homo
Scn10a T A 9: 119,661,320 I519F probably benign Het
Setd5 T G 6: 113,115,544 V295G probably damaging Het
Shcbp1 A T 8: 4,736,176 M642K probably damaging Het
Slc13a3 C T 2: 165,434,097 G243E probably damaging Het
Smg9 T C 7: 24,422,307 Y498H probably damaging Het
Sox5 T C 6: 144,041,313 D175G probably damaging Het
Stard7 A G 2: 127,284,241 D71G probably damaging Het
Stxbp5 A T 10: 9,899,231 Y59* probably null Het
Supt6 G A 11: 78,231,065 R254C probably damaging Het
Syne2 C T 12: 75,990,495 T3817I probably benign Het
Tas2r124 T A 6: 132,755,076 I116N probably damaging Het
Trim9 T A 12: 70,255,213 E550D possibly damaging Het
Vmn2r50 A G 7: 10,040,326 S548P probably damaging Het
Zmynd8 C A 2: 165,846,023 E126* probably null Het
Zswim9 A T 7: 13,260,963 S422R probably damaging Het
Other mutations in Cfap100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Cfap100 APN 6 90415805 missense probably benign 0.36
IGL01067:Cfap100 APN 6 90406114 missense probably damaging 1.00
IGL01347:Cfap100 APN 6 90406121 missense possibly damaging 0.65
IGL01803:Cfap100 APN 6 90415735 missense probably benign 0.29
IGL01910:Cfap100 APN 6 90409624 missense probably damaging 0.99
IGL02086:Cfap100 APN 6 90413972 missense probably damaging 1.00
IGL02680:Cfap100 APN 6 90412235 missense probably benign 0.03
IGL03046:Cfap100 APN 6 90412350 splice site probably null
R0391:Cfap100 UTSW 6 90405339 splice site probably benign
R0883:Cfap100 UTSW 6 90415906 splice site probably benign
R1022:Cfap100 UTSW 6 90413004 missense possibly damaging 0.50
R1024:Cfap100 UTSW 6 90413004 missense possibly damaging 0.50
R1086:Cfap100 UTSW 6 90403908 nonsense probably null
R1440:Cfap100 UTSW 6 90412184 missense probably benign 0.06
R1914:Cfap100 UTSW 6 90412347 splice site probably benign
R1915:Cfap100 UTSW 6 90412347 splice site probably benign
R2257:Cfap100 UTSW 6 90413820 missense possibly damaging 0.83
R4370:Cfap100 UTSW 6 90413394 missense probably damaging 1.00
R4739:Cfap100 UTSW 6 90412843 critical splice donor site probably null
R4895:Cfap100 UTSW 6 90406102 missense possibly damaging 0.95
R5160:Cfap100 UTSW 6 90413710 critical splice donor site probably null
R5983:Cfap100 UTSW 6 90419391 intron probably benign
R6164:Cfap100 UTSW 6 90415786 missense probably benign 0.15
R6658:Cfap100 UTSW 6 90413418 missense probably damaging 0.99
R7094:Cfap100 UTSW 6 90413454 missense
R7254:Cfap100 UTSW 6 90406061 missense unknown
R7922:Cfap100 UTSW 6 90403980 missense unknown
R7983:Cfap100 UTSW 6 90415705 missense
R8169:Cfap100 UTSW 6 90417674 missense
R8490:Cfap100 UTSW 6 90413739 utr 3 prime probably benign
Z1176:Cfap100 UTSW 6 90406150 missense unknown
Predicted Primers PCR Primer
(F):5'- AGAATGGCAGGTCTCACAGG -3'
(R):5'- TCAGGACCCAAGAGAAGACTTTG -3'

Sequencing Primer
(F):5'- CAGGTCTCACAGGGGAGAGTG -3'
(R):5'- CCCAAGAGAAGACTTTGGGGGTG -3'
Posted On2018-05-04