Incidental Mutation 'R5380:Cfap107'
ID 425794
Institutional Source Beutler Lab
Gene Symbol Cfap107
Ensembl Gene ENSMUSG00000028589
Gene Name cilia and flagella associated protein 107
Synonyms 1700012P22Rik
MMRRC Submission 042955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5380 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 144144759-144165342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144150372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 70 (W70R)
Ref Sequence ENSEMBL: ENSMUSP00000030323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030323]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030323
AA Change: W70R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A T 4: 40,177,848 (GRCm39) I290F probably damaging Het
Cmip T A 8: 118,149,629 (GRCm39) C155S probably damaging Het
Cyba G T 8: 123,153,718 (GRCm39) P82T possibly damaging Het
Dgkb C T 12: 38,177,299 (GRCm39) R202W possibly damaging Het
Dnah6 T C 6: 73,014,598 (GRCm39) E3611G probably damaging Het
Dnah7b A T 1: 46,256,351 (GRCm39) S1885C probably benign Het
Dop1b A G 16: 93,560,298 (GRCm39) E748G probably damaging Het
Dusp18 C A 11: 3,847,037 (GRCm39) P9Q probably damaging Het
Fat4 T A 3: 38,943,013 (GRCm39) D635E probably damaging Het
Fbxo25 T A 8: 13,971,886 (GRCm39) S79R probably benign Het
Fgfr4 T A 13: 55,315,230 (GRCm39) L675Q probably damaging Het
Foxo1 T A 3: 52,176,446 (GRCm39) L75Q probably damaging Het
Fsip2 T C 2: 82,805,742 (GRCm39) V687A possibly damaging Het
Gga3 G T 11: 115,479,257 (GRCm39) P354Q probably damaging Het
Gm11077 A T 6: 140,675,048 (GRCm39) K13N unknown Het
Haus4 T A 14: 54,787,232 (GRCm39) K75M probably damaging Het
Igfn1 G A 1: 135,893,825 (GRCm39) T2085M probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lims1 A T 10: 58,252,492 (GRCm39) I321L probably damaging Het
Ms4a6b A T 19: 11,499,044 (GRCm39) I53F probably damaging Het
Msl3l2 A G 10: 55,991,668 (GRCm39) D131G probably damaging Het
Nrap A G 19: 56,370,035 (GRCm39) V189A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pfkl T G 10: 77,833,423 (GRCm39) I260L possibly damaging Het
Pkd2l1 A G 19: 44,146,171 (GRCm39) Y128H probably benign Het
Prpf6 T A 2: 181,250,059 (GRCm39) L73Q probably damaging Het
R3hdm2 T C 10: 127,321,316 (GRCm39) V658A probably damaging Het
Rab27b T C 18: 70,129,226 (GRCm39) T23A probably damaging Het
Rabif A G 1: 134,433,980 (GRCm39) E98G probably damaging Het
Ror2 T C 13: 53,271,185 (GRCm39) D378G possibly damaging Het
Spata21 A G 4: 140,834,496 (GRCm39) T494A probably damaging Het
Ssh2 A G 11: 77,344,771 (GRCm39) K919E probably benign Het
Tnrc6b C G 15: 80,763,766 (GRCm39) P423A possibly damaging Het
Tomm40 A G 7: 19,435,675 (GRCm39) F352L probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Tspo2 A G 17: 48,755,780 (GRCm39) F93L probably benign Het
V1ra8 T A 6: 90,180,004 (GRCm39) I69K probably damaging Het
Zan T C 5: 137,456,102 (GRCm39) T1353A unknown Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp281 A G 1: 136,553,676 (GRCm39) K218R possibly damaging Het
Other mutations in Cfap107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:Cfap107 APN 4 144,165,098 (GRCm39) missense probably damaging 1.00
IGL02120:Cfap107 APN 4 144,144,981 (GRCm39) missense probably benign 0.00
IGL03406:Cfap107 APN 4 144,150,414 (GRCm39) missense probably damaging 1.00
R0699:Cfap107 UTSW 4 144,146,322 (GRCm39) missense probably damaging 1.00
R7405:Cfap107 UTSW 4 144,146,323 (GRCm39) missense probably damaging 0.98
R7607:Cfap107 UTSW 4 144,146,332 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCACTGAGCACAAGTATGTCC -3'
(R):5'- AGTGAATCTGAGACAGGCTCTG -3'

Sequencing Primer
(F):5'- CACTGAGCACAAGTATGTCCTATGG -3'
(R):5'- ACCCTCTGACTGCTTATCTTCTGATG -3'
Posted On 2016-08-04