Incidental Mutation 'IGL01845:Ccdc93'
ID178176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc93
Ensembl Gene ENSMUSG00000026339
Gene Namecoiled-coil domain containing 93
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL01845
Quality Score
Status
Chromosome1
Chromosomal Location121431049-121506460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121463130 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 277 (I277T)
Ref Sequence ENSEMBL: ENSMUSP00000108240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]
Predicted Effect probably damaging
Transcript: ENSMUST00000036025
AA Change: I278T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: I278T

DomainStartEndE-ValueType
Pfam:KOG2701 27 206 2e-81 PFAM
coiled coil region 316 426 N/A INTRINSIC
coiled coil region 558 599 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112621
AA Change: I277T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: I277T

DomainStartEndE-ValueType
Pfam:KOG2701 26 207 1.1e-86 PFAM
coiled coil region 231 269 N/A INTRINSIC
coiled coil region 315 425 N/A INTRINSIC
coiled coil region 557 598 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 14,944,118 L169P probably damaging Het
4933405L10Rik C A 8: 105,708,935 A75E probably benign Het
Abca1 A G 4: 53,090,297 L384P probably damaging Het
Acox2 C A 14: 8,251,617 M293I probably damaging Het
Acp6 A G 3: 97,173,807 S288G probably benign Het
Arhgef12 T A 9: 43,022,841 H127L possibly damaging Het
Arid2 T G 15: 96,356,797 F175V probably damaging Het
Ccdc15 G A 9: 37,315,236 Q468* probably null Het
Cdh8 T C 8: 99,098,954 probably benign Het
Cdipt T C 7: 126,979,553 S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 N268S possibly damaging Het
Clcn3 A T 8: 60,913,095 N814K probably benign Het
Col6a3 T C 1: 90,796,571 D2019G probably damaging Het
Corin C A 5: 72,353,939 G432C probably damaging Het
Cyld C T 8: 88,705,775 Q134* probably null Het
Dhh C A 15: 98,897,983 R97L probably damaging Het
Dnah5 T C 15: 28,449,169 V4239A probably benign Het
Dock2 T C 11: 34,708,865 I296V probably benign Het
Gabbr1 T C 17: 37,048,414 probably benign Het
Gbp10 T C 5: 105,219,949 probably null Het
Ispd A G 12: 36,547,919 R350G probably benign Het
Itgam T A 7: 128,112,472 L753Q probably damaging Het
Kbtbd12 A G 6: 88,613,940 V430A probably benign Het
Kdm4a A G 4: 118,160,459 V470A possibly damaging Het
Larp1b A T 3: 40,970,525 T146S probably benign Het
Lrrfip2 T A 9: 111,199,660 probably benign Het
Mgea5 T A 19: 45,767,862 E447D probably benign Het
Mier2 A T 10: 79,549,584 C137S possibly damaging Het
Morc3 A G 16: 93,860,567 Y393C probably damaging Het
Ms4a7 A T 19: 11,322,387 M217K possibly damaging Het
Msl1 A G 11: 98,805,365 probably null Het
Myh2 A G 11: 67,193,034 E1546G probably benign Het
Nlgn2 A G 11: 69,825,849 L622P possibly damaging Het
Olfr1419 A G 19: 11,870,524 S231P probably benign Het
Olfr181 T C 16: 58,926,566 M2V probably benign Het
Olfr339 A C 2: 36,422,093 K232Q probably benign Het
Olfr393 A G 11: 73,847,472 Y218H probably damaging Het
Olfr504 T A 7: 108,565,136 I220L possibly damaging Het
Phf20 C A 2: 156,276,657 S427* probably null Het
Pirt G A 11: 66,925,968 S35N probably damaging Het
Prss28 C A 17: 25,310,037 N117K possibly damaging Het
Rbbp8nl A G 2: 180,283,311 C34R probably damaging Het
Rtn3 A T 19: 7,457,876 D231E probably damaging Het
Sema5a T C 15: 32,474,368 probably benign Het
Sh3bp2 T A 5: 34,556,003 L196Q probably damaging Het
Slc26a9 G T 1: 131,757,518 D325Y probably damaging Het
Slc4a1 A G 11: 102,353,903 V622A probably benign Het
Thbd A G 2: 148,407,096 V284A probably benign Het
Tmc5 T C 7: 118,652,510 F609L possibly damaging Het
Tnr T C 1: 159,868,006 probably benign Het
Ttc17 A T 2: 94,332,832 Y881* probably null Het
Ttc41 A T 10: 86,776,624 T1254S probably benign Het
Ttn C T 2: 76,810,003 D13754N probably damaging Het
Vmn2r16 T A 5: 109,363,896 F656L probably damaging Het
Wdr19 A G 5: 65,225,366 I478V probably damaging Het
Zan T C 5: 137,380,854 probably benign Het
Zp2 T A 7: 120,138,191 D258V probably damaging Het
Other mutations in Ccdc93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Ccdc93 APN 1 121461899 missense probably benign 0.05
IGL02156:Ccdc93 APN 1 121448276 missense possibly damaging 0.88
IGL02610:Ccdc93 APN 1 121492971 missense probably benign 0.17
IGL02691:Ccdc93 APN 1 121486613 missense possibly damaging 0.80
IGL03003:Ccdc93 APN 1 121463117 missense possibly damaging 0.78
IGL02796:Ccdc93 UTSW 1 121491166 missense probably damaging 1.00
R0335:Ccdc93 UTSW 1 121492977 missense probably damaging 1.00
R1229:Ccdc93 UTSW 1 121434642 missense probably damaging 1.00
R1387:Ccdc93 UTSW 1 121491189 missense probably damaging 1.00
R1531:Ccdc93 UTSW 1 121480822 missense probably benign
R1559:Ccdc93 UTSW 1 121461983 splice site probably benign
R1728:Ccdc93 UTSW 1 121456126 missense probably benign
R1728:Ccdc93 UTSW 1 121461939 missense probably benign
R1729:Ccdc93 UTSW 1 121456126 missense probably benign
R1729:Ccdc93 UTSW 1 121461939 missense probably benign
R1730:Ccdc93 UTSW 1 121456126 missense probably benign
R1730:Ccdc93 UTSW 1 121461939 missense probably benign
R1739:Ccdc93 UTSW 1 121456126 missense probably benign
R1739:Ccdc93 UTSW 1 121461939 missense probably benign
R1762:Ccdc93 UTSW 1 121456126 missense probably benign
R1762:Ccdc93 UTSW 1 121461939 missense probably benign
R1783:Ccdc93 UTSW 1 121456126 missense probably benign
R1783:Ccdc93 UTSW 1 121461939 missense probably benign
R1785:Ccdc93 UTSW 1 121456126 missense probably benign
R1785:Ccdc93 UTSW 1 121461939 missense probably benign
R1865:Ccdc93 UTSW 1 121499227 missense probably damaging 0.98
R1897:Ccdc93 UTSW 1 121491212 missense probably benign 0.04
R2089:Ccdc93 UTSW 1 121483342 critical splice donor site probably null
R2091:Ccdc93 UTSW 1 121483342 critical splice donor site probably null
R2091:Ccdc93 UTSW 1 121483342 critical splice donor site probably null
R3783:Ccdc93 UTSW 1 121437869 missense probably damaging 1.00
R3820:Ccdc93 UTSW 1 121462240 missense probably damaging 0.99
R3870:Ccdc93 UTSW 1 121463114 missense probably benign 0.23
R5644:Ccdc93 UTSW 1 121483336 missense probably benign
R5896:Ccdc93 UTSW 1 121463120 missense possibly damaging 0.90
R6251:Ccdc93 UTSW 1 121434540 missense possibly damaging 0.70
X0063:Ccdc93 UTSW 1 121437806 missense probably damaging 1.00
Posted On2014-05-07