Incidental Mutation 'IGL01517:Ccdc54'
ID90437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc54
Ensembl Gene ENSMUSG00000050685
Gene Namecoiled-coil domain containing 54
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01517
Quality Score
Status
Chromosome16
Chromosomal Location50589857-50591154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 50589917 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 329 (L329F)
Ref Sequence ENSEMBL: ENSMUSP00000049864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062439]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062439
AA Change: L329F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049864
Gene: ENSMUSG00000050685
AA Change: L329F

DomainStartEndE-ValueType
low complexity region 36 45 N/A INTRINSIC
coiled coil region 79 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231324
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Ccdc54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Ccdc54 APN 16 50589914 makesense probably null
IGL01918:Ccdc54 APN 16 50590852 nonsense probably null
IGL03205:Ccdc54 APN 16 50590891 missense possibly damaging 0.94
PIT4382001:Ccdc54 UTSW 16 50590856 missense probably damaging 0.97
PIT4544001:Ccdc54 UTSW 16 50589980 missense possibly damaging 0.66
R0053:Ccdc54 UTSW 16 50590234 missense probably benign 0.23
R0053:Ccdc54 UTSW 16 50590234 missense probably benign 0.23
R0312:Ccdc54 UTSW 16 50590802 missense possibly damaging 0.66
R1742:Ccdc54 UTSW 16 50590238 missense possibly damaging 0.66
R2054:Ccdc54 UTSW 16 50590624 missense probably damaging 0.97
R4594:Ccdc54 UTSW 16 50590017 nonsense probably null
R6549:Ccdc54 UTSW 16 50590025 missense possibly damaging 0.66
R7034:Ccdc54 UTSW 16 50590588 missense probably benign 0.04
R7658:Ccdc54 UTSW 16 50590481 missense probably benign 0.09
R7873:Ccdc54 UTSW 16 50590309 missense probably benign
R7956:Ccdc54 UTSW 16 50590309 missense probably benign
R8064:Ccdc54 UTSW 16 50589964 missense probably benign 0.00
Posted On2013-12-09