Incidental Mutation 'IGL00763:Ccdc138'
ID9432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc138
Ensembl Gene ENSMUSG00000038010
Gene Namecoiled-coil domain containing 138
Synonyms6230424H07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL00763
Quality Score
Status
Chromosome10
Chromosomal Location58497948-58576244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58575715 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 635 (F635Y)
Ref Sequence ENSEMBL: ENSMUSP00000043040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036576]
Predicted Effect probably damaging
Transcript: ENSMUST00000036576
AA Change: F635Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: F635Y

DomainStartEndE-ValueType
coiled coil region 259 339 N/A INTRINSIC
low complexity region 355 365 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T G 11: 58,612,881 probably benign Het
Bmp3 A C 5: 98,872,379 R220S possibly damaging Het
Bms1 A G 6: 118,418,402 probably benign Het
Ccdc81 T C 7: 89,869,615 probably benign Het
Cntnap5a T C 1: 116,117,677 I341T possibly damaging Het
Cog5 C T 12: 31,665,532 probably benign Het
Dcaf4 G A 12: 83,539,333 R358H probably damaging Het
Ddx10 A C 9: 53,160,026 probably benign Het
Fgf15 T A 7: 144,899,892 F201I probably damaging Het
Galp A G 7: 6,208,500 Y40C probably damaging Het
Ints6 A G 14: 62,700,865 probably benign Het
Iqcb1 A T 16: 36,856,287 probably benign Het
Kif19a G A 11: 114,767,168 V18I probably benign Het
Morc1 A C 16: 48,612,326 Q719P probably damaging Het
Pla2g4a T C 1: 149,851,325 D568G probably damaging Het
Plscr4 A G 9: 92,484,945 E204G probably null Het
Rasgrf1 A G 9: 89,971,020 T403A probably benign Het
Sec16b A G 1: 157,529,257 T12A probably benign Het
Slc12a7 A T 13: 73,794,082 N359I possibly damaging Het
Slc14a2 G T 18: 78,192,238 D241E probably damaging Het
Slc23a2 G T 2: 132,101,500 A27E probably benign Het
Slc38a8 T C 8: 119,494,219 I200M probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Tmc6 A G 11: 117,779,046 L20P probably damaging Het
Tnfsfm13 T C 11: 69,684,710 D256G probably benign Het
Tonsl C T 15: 76,633,868 A605T probably damaging Het
Usp28 A G 9: 49,028,163 T240A probably benign Het
Zap70 A T 1: 36,779,252 D340V possibly damaging Het
Zfp512b A T 2: 181,590,151 F100I probably damaging Het
Other mutations in Ccdc138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Ccdc138 APN 10 58529016 splice site probably benign
IGL01012:Ccdc138 APN 10 58540915 critical splice donor site probably null
IGL01725:Ccdc138 APN 10 58528923 missense possibly damaging 0.50
IGL01996:Ccdc138 APN 10 58562030 missense probably damaging 1.00
IGL02083:Ccdc138 APN 10 58544914 splice site probably benign
IGL02652:Ccdc138 APN 10 58513079 missense probably benign 0.00
IGL02820:Ccdc138 APN 10 58528899 splice site probably benign
IGL02934:Ccdc138 APN 10 58573580 splice site probably benign
IGL03231:Ccdc138 APN 10 58573706 missense probably damaging 1.00
R0128:Ccdc138 UTSW 10 58528360 missense probably damaging 1.00
R0271:Ccdc138 UTSW 10 58575823 missense probably damaging 0.99
R0480:Ccdc138 UTSW 10 58561967 missense probably damaging 1.00
R0560:Ccdc138 UTSW 10 58575717 missense probably damaging 1.00
R0645:Ccdc138 UTSW 10 58575720 missense probably damaging 1.00
R1405:Ccdc138 UTSW 10 58545117 splice site probably benign
R2032:Ccdc138 UTSW 10 58513162 missense possibly damaging 0.71
R2097:Ccdc138 UTSW 10 58561937 nonsense probably null
R2350:Ccdc138 UTSW 10 58561893 splice site probably benign
R2571:Ccdc138 UTSW 10 58513222 missense probably benign 0.25
R3787:Ccdc138 UTSW 10 58538270 missense probably damaging 1.00
R3805:Ccdc138 UTSW 10 58561997 missense possibly damaging 0.95
R4582:Ccdc138 UTSW 10 58507643 critical splice donor site probably null
R4630:Ccdc138 UTSW 10 58573655 missense probably damaging 1.00
R4801:Ccdc138 UTSW 10 58573643 missense probably damaging 1.00
R4802:Ccdc138 UTSW 10 58573643 missense probably damaging 1.00
R4883:Ccdc138 UTSW 10 58561996 missense probably benign 0.03
R4908:Ccdc138 UTSW 10 58544995 missense possibly damaging 0.84
R5032:Ccdc138 UTSW 10 58573636 missense probably damaging 1.00
R5155:Ccdc138 UTSW 10 58507572 missense probably benign 0.00
R5287:Ccdc138 UTSW 10 58575705 missense possibly damaging 0.89
R5683:Ccdc138 UTSW 10 58540819 missense probably damaging 1.00
R5963:Ccdc138 UTSW 10 58575757 missense possibly damaging 0.90
R6530:Ccdc138 UTSW 10 58544968 missense probably damaging 1.00
R7148:Ccdc138 UTSW 10 58538280 missense probably damaging 1.00
R7217:Ccdc138 UTSW 10 58509600 missense probably benign 0.33
Posted On2012-12-06