Incidental Mutation 'R3783:Ccdc93'
ID 272104
Institutional Source Beutler Lab
Gene Symbol Ccdc93
Ensembl Gene ENSMUSG00000026339
Gene Name coiled-coil domain containing 93
Synonyms 9230102M16Rik, 4633402D15Rik
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R3783 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 121358796-121434189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121365598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000108240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]
AlphaFold Q7TQK5
Predicted Effect probably damaging
Transcript: ENSMUST00000036025
AA Change: N77S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: N77S

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: N77S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: N77S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156459
Meta Mutation Damage Score 0.5648 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap6 A G 12: 52,927,552 (GRCm39) H154R probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Ascc3 A G 10: 50,604,350 (GRCm39) T1357A probably damaging Het
Atp13a3 A T 16: 30,173,067 (GRCm39) V270D probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Cpt1b T C 15: 89,309,392 (GRCm39) K47R probably damaging Het
Cyp4f14 A G 17: 33,135,736 (GRCm39) Y42H probably benign Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Firrm A T 1: 163,815,252 (GRCm39) C90S probably benign Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gml C T 15: 74,685,521 (GRCm39) V155M probably damaging Het
Gpr174 A G X: 106,336,670 (GRCm39) T161A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Isy1 T C 6: 87,798,527 (GRCm39) E209G possibly damaging Het
Kdm5b A G 1: 134,558,280 (GRCm39) H1429R probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Map3k1 C T 13: 111,892,754 (GRCm39) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm39) E2310D probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Niban1 C T 1: 151,565,399 (GRCm39) S243L possibly damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Pcdha1 T A 18: 37,063,855 (GRCm39) L173Q probably damaging Het
Pdpk1 T C 17: 24,329,824 (GRCm39) T71A possibly damaging Het
Plxna2 T A 1: 194,489,829 (GRCm39) V1692E probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Psmd4 T C 3: 94,942,562 (GRCm39) D6G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Scn10a T C 9: 119,520,628 (GRCm39) T91A probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Tet2 T C 3: 133,185,124 (GRCm39) K1182R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Thoc5 A G 11: 4,870,372 (GRCm39) probably benign Het
Tmprss9 G T 10: 80,723,301 (GRCm39) V254F probably damaging Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Usf2 A G 7: 30,655,256 (GRCm39) V133A probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Xdh C T 17: 74,200,590 (GRCm39) probably benign Het
Xrn1 G T 9: 95,851,338 (GRCm39) M153I probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGATATTTATGGTTTTCTGAGCT -3'
(R):5'- CAGGAGAGACTACACGATGCT -3'

Sequencing Primer
(F):5'- CTGAGCTTTTTGAGTCTGTATGG -3'
(R):5'- TATATGGCAAGTTCCAGGCC -3'
Posted On 2015-03-25