Incidental Mutation 'IGL02698:Cfap36'
ID 304043
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 # IGL02698
Quality Score
Status
Chromosome 11
Chromosomal Location 29171532-29197409 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 29197014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020754] [ENSMUST00000134599]
AlphaFold Q8C6E0
Predicted Effect probably null
Transcript: ENSMUST00000020754
SMART Domains Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462

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 noncoding transcript
Transcript: ENSMUST00000127940
Predicted Effect probably benign
Transcript: ENSMUST00000134599
SMART Domains Protein: ENSMUSP00000118938
Gene: ENSMUSG00000020462

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 6 111 4.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144627
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,014,812 (GRCm39) probably benign Het
Car8 A T 4: 8,185,598 (GRCm39) I186N probably benign Het
Ccdc174 G A 6: 91,867,834 (GRCm39) S183N probably benign Het
Ccdc66 T A 14: 27,212,749 (GRCm39) K525* probably null Het
Cebpz A G 17: 79,243,003 (GRCm39) V217A probably benign Het
Cpne4 T C 9: 104,909,984 (GRCm39) V527A probably damaging Het
Crh T G 3: 19,748,354 (GRCm39) D96A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dcp1a A T 14: 30,227,499 (GRCm39) probably benign Het
Ddhd1 A T 14: 45,842,663 (GRCm39) probably benign Het
Dis3l2 C T 1: 86,976,551 (GRCm39) probably benign Het
Dop1a T C 9: 86,406,412 (GRCm39) probably benign Het
Etv3 A G 3: 87,443,885 (GRCm39) T490A possibly damaging Het
Fastkd2 A G 1: 63,787,158 (GRCm39) T531A probably benign Het
Fat1 C T 8: 45,476,201 (GRCm39) A1749V probably benign Het
Fgfr1 T A 8: 26,063,624 (GRCm39) L761* probably null Het
Gcc2 A G 10: 58,107,112 (GRCm39) K683E possibly damaging Het
Gm5117 C T 8: 32,229,767 (GRCm39) noncoding transcript Het
Hif1a T C 12: 73,977,545 (GRCm39) probably null Het
Inha A G 1: 75,486,527 (GRCm39) E274G probably damaging Het
Itih2 G T 2: 10,135,312 (GRCm39) P26H probably damaging Het
Kif23 G A 9: 61,832,283 (GRCm39) T620I possibly damaging Het
Klhl30 T C 1: 91,281,429 (GRCm39) F10S probably damaging Het
Kmt2b T C 7: 30,278,118 (GRCm39) probably benign Het
Lmf2 A C 15: 89,238,357 (GRCm39) L174R probably damaging Het
Med13l T C 5: 118,900,894 (GRCm39) L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 (GRCm39) L257F probably damaging Het
Net1 A G 13: 3,937,569 (GRCm39) probably null Het
Nfasc A G 1: 132,562,475 (GRCm39) V100A probably benign Het
Nr4a2 A G 2: 56,998,172 (GRCm39) F535S probably damaging Het
Ntn4 G T 10: 93,480,521 (GRCm39) A45S probably benign Het
Or2y1c T A 11: 49,361,690 (GRCm39) F237L probably benign Het
Or4a27 T A 2: 88,559,815 (GRCm39) I43F probably damaging Het
Or52a20 T C 7: 103,366,485 (GRCm39) V228A probably damaging Het
Or5w17 T A 2: 87,584,188 (GRCm39) K50* probably null Het
Or8c9 A G 9: 38,241,506 (GRCm39) T208A probably benign Het
Pappa A T 4: 65,099,257 (GRCm39) E592V probably damaging Het
Pate10 T C 9: 35,652,416 (GRCm39) probably benign Het
Pi4ka A T 16: 17,109,032 (GRCm39) I1630N probably damaging Het
Ptprb A G 10: 116,199,185 (GRCm39) D1997G probably benign Het
Rc3h2 A T 2: 37,295,312 (GRCm39) S235T probably damaging Het
S1pr1 T A 3: 115,505,746 (GRCm39) K283* probably null Het
Scn5a T A 9: 119,350,163 (GRCm39) T904S probably damaging Het
Sema6d T C 2: 124,495,643 (GRCm39) L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 (GRCm39) S83A possibly damaging Het
Slco1a6 C A 6: 142,048,737 (GRCm39) G348* probably null Het
Srgap3 C T 6: 112,723,889 (GRCm39) V524I probably damaging Het
Stxbp3-ps A T 19: 9,535,688 (GRCm39) noncoding transcript Het
Sv2b C T 7: 74,790,726 (GRCm39) probably null Het
Sympk T C 7: 18,779,559 (GRCm39) I663T probably benign Het
Ttn C A 2: 76,775,115 (GRCm39) V1976L probably damaging Het
Uqcrc1 T C 9: 108,777,011 (GRCm39) probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging 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
IGL02398:Cfap36 APN 11 29,172,833 (GRCm39) missense probably benign
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