Incidental Mutation 'IGL01133:Cfap36'
ID52359
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? Probably non essential (E-score: 0.188) question?
Stock #IGL01133
Quality Score
Status
Chromosome11
Chromosomal Location29221532-29247409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 29234414 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 114 (V114G)
Ref Sequence ENSEMBL: ENSMUSP00000020754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020754] [ENSMUST00000134599]
Predicted Effect probably damaging
Transcript: ENSMUST00000020754
AA Change: V114G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020754
Gene: ENSMUSG00000020462
AA Change: V114G

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 damaging
Transcript: ENSMUST00000134599
AA Change: V103G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118938
Gene: ENSMUSG00000020462
AA Change: V103G

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 6 111 4.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141862
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,595,434 D486E probably damaging Het
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700007G11Rik T C 5: 98,498,381 probably null Het
Adam4 T C 12: 81,421,446 T134A possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
BC005561 A G 5: 104,517,662 T17A probably benign Het
Cartpt T G 13: 99,900,040 I67L probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ccer1 T C 10: 97,694,539 F355L probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col4a3bp A G 13: 96,614,802 E320G probably damaging Het
Cyp2b9 G A 7: 26,210,235 G476D probably damaging Het
Eif3l T C 15: 79,076,920 Y58H possibly damaging Het
Gapvd1 T C 2: 34,725,398 Y411C probably damaging Het
Gm27029 G T 11: 101,411,960 F236L possibly damaging Het
Golga1 T C 2: 39,023,472 T501A probably benign Het
Heg1 C T 16: 33,727,287 H815Y probably benign Het
Krt1 A T 15: 101,848,193 D298E probably damaging Het
Mecr T A 4: 131,843,596 S32T probably benign Het
Med1 A T 11: 98,157,986 Y661* probably null Het
Olfr419 T C 1: 174,250,526 S134G probably benign Het
Pla2g12b G T 10: 59,416,417 A37S probably benign Het
Plekha7 G T 7: 116,145,241 probably null Het
Ralgapa1 T C 12: 55,642,348 I1989V probably damaging Het
Ralgapa1 T C 12: 55,642,359 H1938R probably damaging Het
Sec31b A G 19: 44,527,041 F309S probably damaging Het
Serpina3a T C 12: 104,121,499 I227T probably benign Het
Slc1a3 A G 15: 8,645,687 I278T probably damaging Het
Slc1a3 T C 15: 8,650,993 Y127C probably damaging Het
Spen T C 4: 141,489,901 K449R unknown Het
Tmem130 A G 5: 144,752,445 S129P probably damaging Het
Trim68 A T 7: 102,679,141 probably null Het
Vdac3-ps1 T C 13: 18,031,449 noncoding transcript Het
Vmn2r75 A G 7: 86,148,032 probably benign Het
Zbtb9 G T 17: 26,975,011 probably benign Het
Zfp568 T A 7: 29,987,808 probably null Het
Other mutations in Cfap36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Cfap36 APN 11 29222875 missense probably benign 0.01
IGL01599:Cfap36 APN 11 29244057 critical splice donor site probably null
IGL02398:Cfap36 APN 11 29222833 missense probably benign
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
X0062:Cfap36 UTSW 11 29247132 unclassified probably benign
Posted On2013-06-21