Incidental Mutation 'IGL01524:Ccdc93'
ID 89498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc93
Ensembl Gene ENSMUSG00000026339
Gene Name coiled-coil domain containing 93
Synonyms 9230102M16Rik, 4633402D15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.851) question?
Stock # IGL01524
Quality Score
Status
Chromosome 1
Chromosomal Location 121358796-121434189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121389628 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TQK5
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
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Glo1 T C 17: 30,815,393 (GRCm39) R141G possibly damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Ccdc93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Ccdc93 APN 1 121,390,859 (GRCm39) missense probably damaging 1.00
IGL02156:Ccdc93 APN 1 121,376,005 (GRCm39) missense possibly damaging 0.88
IGL02610:Ccdc93 APN 1 121,420,700 (GRCm39) missense probably benign 0.17
IGL02691:Ccdc93 APN 1 121,414,342 (GRCm39) missense possibly damaging 0.80
IGL03003:Ccdc93 APN 1 121,390,846 (GRCm39) missense possibly damaging 0.78
IGL02796:Ccdc93 UTSW 1 121,418,895 (GRCm39) missense probably damaging 1.00
R0335:Ccdc93 UTSW 1 121,420,706 (GRCm39) missense probably damaging 1.00
R1229:Ccdc93 UTSW 1 121,362,371 (GRCm39) missense probably damaging 1.00
R1387:Ccdc93 UTSW 1 121,418,918 (GRCm39) missense probably damaging 1.00
R1531:Ccdc93 UTSW 1 121,408,551 (GRCm39) missense probably benign
R1559:Ccdc93 UTSW 1 121,389,712 (GRCm39) splice site probably benign
R1728:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1728:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1729:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1729:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1730:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1730:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1739:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1739:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1762:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1762:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1783:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1783:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1785:Ccdc93 UTSW 1 121,389,668 (GRCm39) missense probably benign
R1785:Ccdc93 UTSW 1 121,383,855 (GRCm39) missense probably benign
R1865:Ccdc93 UTSW 1 121,426,956 (GRCm39) missense probably damaging 0.98
R1897:Ccdc93 UTSW 1 121,418,941 (GRCm39) missense probably benign 0.04
R2089:Ccdc93 UTSW 1 121,411,071 (GRCm39) critical splice donor site probably null
R2091:Ccdc93 UTSW 1 121,411,071 (GRCm39) critical splice donor site probably null
R2091:Ccdc93 UTSW 1 121,411,071 (GRCm39) critical splice donor site probably null
R3783:Ccdc93 UTSW 1 121,365,598 (GRCm39) missense probably damaging 1.00
R3820:Ccdc93 UTSW 1 121,389,969 (GRCm39) missense probably damaging 0.99
R3870:Ccdc93 UTSW 1 121,390,843 (GRCm39) missense probably benign 0.23
R5644:Ccdc93 UTSW 1 121,411,065 (GRCm39) missense probably benign
R5896:Ccdc93 UTSW 1 121,390,849 (GRCm39) missense possibly damaging 0.90
R6251:Ccdc93 UTSW 1 121,362,269 (GRCm39) missense possibly damaging 0.70
R7765:Ccdc93 UTSW 1 121,427,042 (GRCm39) missense probably damaging 1.00
R7978:Ccdc93 UTSW 1 121,426,960 (GRCm39) missense possibly damaging 0.54
R8017:Ccdc93 UTSW 1 121,375,993 (GRCm39) missense probably damaging 1.00
R8019:Ccdc93 UTSW 1 121,375,993 (GRCm39) missense probably damaging 1.00
R8369:Ccdc93 UTSW 1 121,422,126 (GRCm39) missense probably benign 0.03
R8369:Ccdc93 UTSW 1 121,405,597 (GRCm39) missense probably damaging 0.97
R8789:Ccdc93 UTSW 1 121,424,784 (GRCm39) missense probably damaging 0.99
R8877:Ccdc93 UTSW 1 121,403,867 (GRCm39) missense probably benign
R8919:Ccdc93 UTSW 1 121,426,970 (GRCm39) missense probably damaging 1.00
R9435:Ccdc93 UTSW 1 121,369,584 (GRCm39) nonsense probably null
R9436:Ccdc93 UTSW 1 121,369,584 (GRCm39) nonsense probably null
R9437:Ccdc93 UTSW 1 121,369,584 (GRCm39) nonsense probably null
R9438:Ccdc93 UTSW 1 121,369,584 (GRCm39) nonsense probably null
X0063:Ccdc93 UTSW 1 121,365,535 (GRCm39) missense probably damaging 1.00
Z1191:Ccdc93 UTSW 1 121,403,797 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03