Incidental Mutation 'IGL03003:Ccdc93'
ID 407430
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: 0.865) question?
Stock # IGL03003
Quality Score
Status
Chromosome 1
Chromosomal Location 121358796-121434189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121390846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 273 (S273P)
Ref Sequence ENSEMBL: ENSMUSP00000108240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]
AlphaFold Q7TQK5
Predicted Effect possibly damaging
Transcript: ENSMUST00000036025
AA Change: S274P

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: S274P

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 possibly damaging
Transcript: ENSMUST00000112621
AA Change: S273P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: S273P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,671,509 (GRCm39) P577L probably damaging Het
Aff3 A T 1: 38,248,651 (GRCm39) S819T probably damaging Het
Aftph G T 11: 20,676,982 (GRCm39) S209* probably null Het
Astn1 T A 1: 158,439,965 (GRCm39) D844E probably benign Het
Cc2d2a A G 5: 43,828,608 (GRCm39) K29E probably benign Het
Cd200r3 C A 16: 44,764,139 (GRCm39) H2N probably benign Het
Cd200r3 G T 16: 44,764,138 (GRCm39) M1I probably null Het
Col7a1 G A 9: 108,804,024 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,642,640 (GRCm39) M240L probably benign Het
Dcstamp T C 15: 39,617,906 (GRCm39) V105A possibly damaging Het
Dmbt1 C A 7: 130,684,409 (GRCm39) P635Q probably benign Het
Dsg1a T A 18: 20,469,876 (GRCm39) M634K probably benign Het
Farp2 T C 1: 93,495,140 (GRCm39) Y138H probably damaging Het
Fga T C 3: 82,940,037 (GRCm39) S564P probably damaging Het
Gbf1 T C 19: 46,244,094 (GRCm39) L142S probably damaging Het
Gm5422 T C 10: 31,126,840 (GRCm39) noncoding transcript Het
Helz2 A G 2: 180,882,046 (GRCm39) V249A probably damaging Het
Hmcn2 C A 2: 31,323,498 (GRCm39) T4204K probably damaging Het
Ift81 T C 5: 122,732,725 (GRCm39) I270V probably benign Het
Katnip A T 7: 125,451,132 (GRCm39) I1088F probably damaging Het
Kif6 C T 17: 50,060,899 (GRCm39) R411* probably null Het
Klhl35 T A 7: 99,119,550 (GRCm39) V345D probably damaging Het
Mcm3ap C A 10: 76,340,531 (GRCm39) D1531E probably benign Het
Muc5b C A 7: 141,417,351 (GRCm39) D3432E probably benign Het
Nipbl A T 15: 8,379,798 (GRCm39) V998D probably damaging Het
Nlrc3 C A 16: 3,782,726 (GRCm39) V228L probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Nt5c1b C T 12: 10,424,910 (GRCm39) A210V possibly damaging Het
Or13a18 A G 7: 140,190,283 (GRCm39) Y60C probably damaging Het
Or1l4b T C 2: 37,036,464 (GRCm39) V80A probably benign Het
Osbpl7 T C 11: 96,941,521 (GRCm39) Y15H probably benign Het
Pde8b T A 13: 95,178,465 (GRCm39) N552Y probably damaging Het
Pi4kb T A 3: 94,892,123 (GRCm39) S280T probably benign Het
Pkd1 T A 17: 24,812,577 (GRCm39) probably null Het
Polh A T 17: 46,505,292 (GRCm39) V108E possibly damaging Het
Prob1 A G 18: 35,786,428 (GRCm39) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,582 (GRCm39) N1557K probably damaging Het
Rev1 A C 1: 38,127,154 (GRCm39) F369V possibly damaging Het
Rgma A G 7: 73,067,188 (GRCm39) N148D probably damaging Het
Robo3 A G 9: 37,330,587 (GRCm39) L1003S probably damaging Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Sema6c T C 3: 95,076,925 (GRCm39) L337P probably damaging Het
Shc4 A T 2: 125,565,253 (GRCm39) Y15* probably null Het
Slc4a9 T C 18: 36,669,946 (GRCm39) S722P probably damaging Het
Smarcc1 A G 9: 110,035,168 (GRCm39) N864D probably damaging Het
Sspo T C 6: 48,432,021 (GRCm39) L745P probably damaging Het
Syce1l A G 8: 114,380,699 (GRCm39) D137G probably damaging Het
Tbc1d1 G T 5: 64,473,781 (GRCm39) W768L probably damaging Het
Tmbim7 A G 5: 3,711,887 (GRCm39) D7G probably benign Het
Tmem109 A C 19: 10,851,695 (GRCm39) S64A probably benign Het
Tnfrsf21 A G 17: 43,350,834 (GRCm39) R333G probably damaging Het
Ttn T G 2: 76,611,955 (GRCm39) S17316R probably damaging Het
Usp10 A G 8: 120,681,549 (GRCm39) T668A possibly damaging Het
Xirp2 T A 2: 67,345,906 (GRCm39) F2716I possibly damaging Het
Other mutations in Ccdc93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Ccdc93 APN 1 121,389,628 (GRCm39) missense probably benign 0.05
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
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 2016-08-02