Incidental Mutation 'R5983:Cfap100'
ID 481519
Institutional Source Beutler Lab
Gene Symbol Cfap100
Ensembl Gene ENSMUSG00000048794
Gene Name cilia and flagella associated protein 100
Synonyms Ccdc37, C230069K22Rik, C030041G11Rik
MMRRC Submission 044164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5983 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90380461-90405779 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 90396373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000127508] [ENSMUST00000134224] [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: ENSMUST00000127508
Predicted Effect probably benign
Transcript: ENSMUST00000134224
Predicted Effect probably benign
Transcript: ENSMUST00000153843
Predicted Effect unknown
Transcript: ENSMUST00000165673
AA Change: S40A
SMART Domains Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794
AA Change: S40A

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,807,942 (GRCm39) M861K probably benign Het
Abhd18 T A 3: 40,864,979 (GRCm39) F73L probably damaging Het
Abraxas1 A G 5: 100,955,777 (GRCm39) V237A probably benign Het
Adam26b T C 8: 43,974,378 (GRCm39) Y208C probably damaging Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Bach2 A T 4: 32,563,324 (GRCm39) E597V probably damaging Het
Ccdc170 A T 10: 4,470,851 (GRCm39) R232* probably null Het
Dppa2 G A 16: 48,136,204 (GRCm39) M185I probably benign Het
Ecsit C T 9: 21,989,443 (GRCm39) probably null Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Grm8 T C 6: 27,760,220 (GRCm39) K370R probably benign Het
Ide C T 19: 37,249,549 (GRCm39) probably null Het
Katnip T A 7: 125,449,545 (GRCm39) W870R probably damaging Het
Morn3 T C 5: 123,175,851 (GRCm39) D179G possibly damaging Het
Nkapd1 A G 9: 50,519,142 (GRCm39) S157P probably damaging Het
Nvl A T 1: 180,964,471 (GRCm39) D102E probably benign Het
Or5an10 T A 19: 12,276,467 (GRCm39) I10F probably benign Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rsph9 A G 17: 46,440,406 (GRCm39) M230T probably benign Het
Sacs G A 14: 61,442,648 (GRCm39) V1565M probably damaging Het
Serpina3n T C 12: 104,375,288 (GRCm39) L120P probably damaging Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Tmem147 T C 7: 30,427,484 (GRCm39) D111G probably damaging Het
Ttn A G 2: 76,572,725 (GRCm39) V17729A possibly damaging Het
Vmn2r104 G A 17: 20,261,970 (GRCm39) P387S probably damaging Het
Zfp940 C T 7: 29,544,477 (GRCm39) V477M possibly damaging Het
Zw10 A G 9: 48,988,745 (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
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
Predicted Primers PCR Primer
(F):5'- AGACGCCTTCTTGAAGTTTTG -3'
(R):5'- TCGAGGTTGCTAAACTGGTGC -3'

Sequencing Primer
(F):5'- CTTGAAGTTTTGGGGCTCAGC -3'
(R):5'- TAAACTGGTGCCCCCTGAGTC -3'
Posted On 2017-06-26