Incidental Mutation 'IGL01524:Ccdc93'
ID89498
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: 0.181) question?
Stock #IGL01524
Quality Score
Status
Chromosome1
Chromosomal Location121431049-121506460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121461899 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 224 (K224E)
Ref Sequence ENSEMBL: ENSMUSP00000108240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]
Predicted Effect probably benign
Transcript: ENSMUST00000036025
AA Change: K224E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: K224E

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 benign
Transcript: ENSMUST00000112621
AA Change: K224E

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: K224E

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Ccdc93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Ccdc93 APN 1 121463130 missense probably damaging 1.00
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
R7765:Ccdc93 UTSW 1 121499313 missense probably damaging 1.00
R8017:Ccdc93 UTSW 1 121448264 missense probably damaging 1.00
R8019:Ccdc93 UTSW 1 121448264 missense probably damaging 1.00
X0063:Ccdc93 UTSW 1 121437806 missense probably damaging 1.00
Posted On2013-12-03