Incidental Mutation 'IGL02615:Ccdc51'
ID300623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc51
Ensembl Gene ENSMUSG00000025645
Gene Namecoiled-coil domain containing 51
Synonyms5730568A12Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.417) question?
Stock #IGL02615
Quality Score
Status
Chromosome9
Chromosomal Location109082493-109092489 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 109089435 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 31 (T31S)
Ref Sequence ENSEMBL: ENSMUSP00000026735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026735]
Predicted Effect probably benign
Transcript: ENSMUST00000026735
AA Change: T31S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026735
Gene: ENSMUSG00000025645
AA Change: T31S

DomainStartEndE-ValueType
coiled coil region 109 162 N/A INTRINSIC
low complexity region 224 236 N/A INTRINSIC
low complexity region 274 286 N/A INTRINSIC
transmembrane domain 381 403 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134690
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Aph1c A T 9: 66,819,406 V222E possibly damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Bcl2l13 A T 6: 120,862,867 D42V probably damaging Het
Bhlhe22 C T 3: 18,054,900 T38I possibly damaging Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Gm12394 C T 4: 42,793,027 M368I probably benign Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Scp2 A G 4: 108,107,631 V62A probably benign Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Ccdc51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Ccdc51 APN 9 109092184 missense probably damaging 1.00
IGL02806:Ccdc51 APN 9 109092248 missense probably benign 0.00
R0100:Ccdc51 UTSW 9 109091998 nonsense probably null
R0137:Ccdc51 UTSW 9 109091630 missense probably damaging 1.00
R0211:Ccdc51 UTSW 9 109089373 missense probably benign 0.01
R0211:Ccdc51 UTSW 9 109089373 missense probably benign 0.01
R4540:Ccdc51 UTSW 9 109092220 missense possibly damaging 0.50
R4669:Ccdc51 UTSW 9 109090962 missense probably benign 0.00
R4770:Ccdc51 UTSW 9 109090910 missense probably benign
R5364:Ccdc51 UTSW 9 109092120 missense possibly damaging 0.82
R6137:Ccdc51 UTSW 9 109089415 missense probably benign 0.21
R7146:Ccdc51 UTSW 9 109091780 missense probably damaging 1.00
R7831:Ccdc51 UTSW 9 109091990 missense probably damaging 1.00
R7886:Ccdc51 UTSW 9 109091587 missense probably damaging 1.00
R7914:Ccdc51 UTSW 9 109091990 missense probably damaging 1.00
R7969:Ccdc51 UTSW 9 109091587 missense probably damaging 1.00
Z1176:Ccdc51 UTSW 9 109092148 nonsense probably null
Z1176:Ccdc51 UTSW 9 109092226 missense probably damaging 1.00
Posted On2015-04-16