Incidental Mutation 'IGL02398:Cfap36'
ID291768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap36
Ensembl Gene ENSMUSG00000020462
Gene Namecilia and flagella associated protein 36
Synonyms4931428D14Rik, Ccdc104
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02398
Quality Score
Status
Chromosome11
Chromosomal Location29221532-29247409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 29222833 bp
ZygosityHeterozygous
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]
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: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Cfap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Cfap36 APN 11 29222875 missense probably benign 0.01
IGL01133:Cfap36 APN 11 29234414 missense probably damaging 1.00
IGL01599:Cfap36 APN 11 29244057 critical splice donor site probably null
IGL02698:Cfap36 APN 11 29247014 critical splice donor site probably null
R0049:Cfap36 UTSW 11 29246514 critical splice donor site probably null
R0137:Cfap36 UTSW 11 29222431 unclassified probably benign
R0138:Cfap36 UTSW 11 29244073 missense probably benign 0.01
R2055:Cfap36 UTSW 11 29247122 missense probably damaging 1.00
R4276:Cfap36 UTSW 11 29230584 critical splice donor site probably null
R4816:Cfap36 UTSW 11 29245108 missense probably damaging 1.00
R7026:Cfap36 UTSW 11 29222565 missense probably benign 0.00
R7339:Cfap36 UTSW 11 29225925 missense probably benign
X0062:Cfap36 UTSW 11 29247132 unclassified probably benign
Posted On2015-04-16