Incidental Mutation 'IGL03195:Ccdc81'
ID412780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc81
Ensembl Gene ENSMUSG00000039391
Gene Namecoiled-coil domain containing 81
Synonyms4921513D09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL03195
Quality Score
Status
Chromosome7
Chromosomal Location89866148-89903629 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89896708 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 96 (V96E)
Ref Sequence ENSEMBL: ENSMUSP00000044087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]
Predicted Effect probably benign
Transcript: ENSMUST00000041195
AA Change: V96E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: V96E

DomainStartEndE-ValueType
Pfam:DUF4496 29 165 2.7e-47 PFAM
low complexity region 224 233 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
coiled coil region 434 468 N/A INTRINSIC
low complexity region 623 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131966
AA Change: V96E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391
AA Change: V96E

DomainStartEndE-ValueType
Pfam:DUF4496 28 165 2e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Ccdc81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ccdc81 APN 7 89869615 splice site probably benign
IGL01948:Ccdc81 APN 7 89875855 missense possibly damaging 0.80
IGL02177:Ccdc81 APN 7 89875780 missense possibly damaging 0.94
IGL02396:Ccdc81 APN 7 89881649 missense probably benign
IGL02420:Ccdc81 APN 7 89875738 missense probably benign 0.16
IGL02536:Ccdc81 APN 7 89877580 splice site probably benign
IGL03397:Ccdc81 APN 7 89896828 missense probably damaging 1.00
I0000:Ccdc81 UTSW 7 89898051 missense probably damaging 1.00
R0089:Ccdc81 UTSW 7 89893116 missense possibly damaging 0.87
R0409:Ccdc81 UTSW 7 89886215 missense probably benign 0.01
R0449:Ccdc81 UTSW 7 89890471 missense probably damaging 1.00
R0490:Ccdc81 UTSW 7 89887762 missense probably benign 0.28
R0511:Ccdc81 UTSW 7 89893296 missense probably damaging 1.00
R0562:Ccdc81 UTSW 7 89903229 missense probably benign 0.02
R0801:Ccdc81 UTSW 7 89887658 splice site probably null
R0944:Ccdc81 UTSW 7 89866569 missense probably damaging 0.99
R1006:Ccdc81 UTSW 7 89866561 missense probably benign 0.03
R1334:Ccdc81 UTSW 7 89866561 missense probably benign 0.03
R1526:Ccdc81 UTSW 7 89875873 missense probably damaging 0.99
R1623:Ccdc81 UTSW 7 89886182 missense probably benign 0.00
R1753:Ccdc81 UTSW 7 89866561 missense probably benign 0.03
R1885:Ccdc81 UTSW 7 89866611 missense possibly damaging 0.80
R1886:Ccdc81 UTSW 7 89866611 missense possibly damaging 0.80
R1887:Ccdc81 UTSW 7 89866611 missense possibly damaging 0.80
R1889:Ccdc81 UTSW 7 89882294 nonsense probably null
R1964:Ccdc81 UTSW 7 89886153 missense probably benign
R1997:Ccdc81 UTSW 7 89898063 missense probably damaging 1.00
R3725:Ccdc81 UTSW 7 89866630 missense possibly damaging 0.95
R5494:Ccdc81 UTSW 7 89877573 missense probably damaging 1.00
R5660:Ccdc81 UTSW 7 89893129 missense probably benign
R6275:Ccdc81 UTSW 7 89882311 missense possibly damaging 0.59
R6434:Ccdc81 UTSW 7 89876144 missense probably damaging 1.00
R6711:Ccdc81 UTSW 7 89887798 missense probably damaging 0.98
R7287:Ccdc81 UTSW 7 89893123 missense probably damaging 0.98
R7582:Ccdc81 UTSW 7 89876145 missense probably damaging 0.99
R7914:Ccdc81 UTSW 7 89875780 missense possibly damaging 0.94
R7976:Ccdc81 UTSW 7 89866515 nonsense probably null
R7977:Ccdc81 UTSW 7 89876111 missense probably damaging 1.00
R7987:Ccdc81 UTSW 7 89876111 missense probably damaging 1.00
R7991:Ccdc81 UTSW 7 89890401 missense probably benign 0.01
R8002:Ccdc81 UTSW 7 89876135 missense probably benign
R8309:Ccdc81 UTSW 7 89877578 critical splice acceptor site probably null
RF018:Ccdc81 UTSW 7 89866698 splice site probably null
X0061:Ccdc81 UTSW 7 89877489 missense probably benign 0.00
Z1177:Ccdc81 UTSW 7 89881657 missense probably damaging 0.99
Posted On2016-08-02