Incidental Mutation 'IGL02398:Cfap36'
ID 291768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap36
Ensembl Gene ENSMUSG00000020462
Gene Name cilia and flagella associated protein 36
Synonyms 4931428D14Rik, Ccdc104
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02398
Quality Score
Status
Chromosome 11
Chromosomal Location 29171532-29197409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 29172833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 231 (M231L)
Ref Sequence ENSEMBL: ENSMUSP00000020754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020754] [ENSMUST00000020755]
AlphaFold Q8C6E0
Predicted Effect probably benign
Transcript: ENSMUST00000020754
AA Change: M231L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462
AA Change: M231L

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 8 122 3.8e-43 PFAM
coiled coil region 147 188 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000020755
SMART Domains Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463

DomainStartEndE-ValueType
SCOP:d1k5db_ 7 96 2e-24 SMART
low complexity region 116 127 N/A INTRINSIC
Pfam:SMK-1 168 359 3.6e-84 PFAM
low complexity region 511 519 N/A INTRINSIC
low complexity region 800 809 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141862
Predicted Effect probably benign
Transcript: ENSMUST00000148759
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,709,824 (GRCm39) C160* probably null Het
Alkbh8 C T 9: 3,345,870 (GRCm39) P197S possibly damaging Het
Ankef1 A C 2: 136,397,702 (GRCm39) N761T probably damaging Het
Ankrd7 A G 6: 18,866,696 (GRCm39) Y72C probably damaging Het
Cog7 A G 7: 121,563,432 (GRCm39) C227R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspg4 A T 9: 56,793,970 (GRCm39) E568D probably benign Het
Cwc27 G A 13: 104,940,762 (GRCm39) T199I possibly damaging Het
Cyp26a1 A G 19: 37,688,467 (GRCm39) I330V probably benign Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dhrs7 G A 12: 72,711,466 (GRCm39) R24C probably damaging Het
Ehmt2 T A 17: 35,127,455 (GRCm39) C838S probably damaging Het
Fn1 A T 1: 71,657,829 (GRCm39) probably null Het
Gjb3 T A 4: 127,219,855 (GRCm39) S226C probably benign Het
Gm14496 A G 2: 181,637,963 (GRCm39) I346V probably benign Het
Gm8050 T C 14: 17,930,894 (GRCm39) E172G probably damaging Het
Higd1a G A 9: 121,681,590 (GRCm39) R22W probably damaging Het
Hmcn1 A G 1: 150,678,648 (GRCm39) L491S possibly damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irgm2 A T 11: 58,110,755 (GRCm39) I161F probably damaging Het
Lrp8 G T 4: 107,704,691 (GRCm39) V304F probably damaging Het
Lrp8 C A 4: 107,726,245 (GRCm39) S850R probably damaging Het
Lrrc9 A T 12: 72,513,677 (GRCm39) M513L probably benign Het
Myo18b A T 5: 112,978,178 (GRCm39) V1248E possibly damaging Het
Myo1b A T 1: 51,797,050 (GRCm39) N945K probably damaging Het
Nipbl A G 15: 8,356,574 (GRCm39) L1604P probably damaging Het
Oas1f A T 5: 120,989,568 (GRCm39) Y169F probably benign Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or2a56 A T 6: 42,933,046 (GRCm39) I205F probably benign Het
Or52r1c G A 7: 102,735,313 (GRCm39) C191Y probably damaging Het
Or8k22 A T 2: 86,162,868 (GRCm39) Y277* probably null Het
Parp8 A G 13: 117,047,399 (GRCm39) probably null Het
Pde4dip T C 3: 97,674,097 (GRCm39) Y273C probably benign Het
Pgbd5 C T 8: 125,111,257 (GRCm39) A54T probably damaging Het
Pglyrp4 G A 3: 90,646,424 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,302 (GRCm39) S1819R probably benign Het
Polr1a T C 6: 71,913,540 (GRCm39) probably benign Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prlhr G T 19: 60,455,753 (GRCm39) A271E probably damaging Het
Rad23b C T 4: 55,350,360 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,905,114 (GRCm39) S132R probably damaging Het
Ros1 T A 10: 52,020,980 (GRCm39) probably benign Het
Ryr3 T C 2: 112,677,767 (GRCm39) D1327G probably benign Het
Slit1 A C 19: 41,590,676 (GRCm39) V1332G probably damaging Het
Spin2h A G X: 32,162,153 (GRCm39) D224G probably damaging Het
Tmem178b A G 6: 40,184,461 (GRCm39) M120V probably damaging Het
Trim25 T C 11: 88,890,630 (GRCm39) C106R probably damaging Het
Trim35 A G 14: 66,546,697 (GRCm39) Y488C probably damaging Het
Tsc2 A T 17: 24,840,703 (GRCm39) H326Q probably damaging Het
Yap1 A T 9: 7,950,536 (GRCm39) I315K probably benign Het
Zfp654 A G 16: 64,606,381 (GRCm39) V607A probably benign Het
Other mutations in Cfap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Cfap36 APN 11 29,172,875 (GRCm39) missense probably benign 0.01
IGL01133:Cfap36 APN 11 29,184,414 (GRCm39) missense probably damaging 1.00
IGL01599:Cfap36 APN 11 29,194,057 (GRCm39) critical splice donor site probably null
IGL02698:Cfap36 APN 11 29,197,014 (GRCm39) critical splice donor site probably null
R0049:Cfap36 UTSW 11 29,196,514 (GRCm39) critical splice donor site probably null
R0137:Cfap36 UTSW 11 29,172,431 (GRCm39) unclassified probably benign
R0138:Cfap36 UTSW 11 29,194,073 (GRCm39) missense probably benign 0.01
R2055:Cfap36 UTSW 11 29,197,122 (GRCm39) missense probably damaging 1.00
R4276:Cfap36 UTSW 11 29,180,584 (GRCm39) critical splice donor site probably null
R4816:Cfap36 UTSW 11 29,195,108 (GRCm39) missense probably damaging 1.00
R7026:Cfap36 UTSW 11 29,172,565 (GRCm39) missense probably benign 0.00
R7339:Cfap36 UTSW 11 29,175,925 (GRCm39) missense probably benign
R9169:Cfap36 UTSW 11 29,196,541 (GRCm39) missense probably benign 0.05
X0062:Cfap36 UTSW 11 29,197,132 (GRCm39) unclassified probably benign
Posted On 2015-04-16