Incidental Mutation 'R2091:Ccdc93'
ID 231753
Institutional Source Beutler Lab
Gene Symbol Ccdc93
Ensembl Gene ENSMUSG00000026339
Gene Name coiled-coil domain containing 93
Synonyms 9230102M16Rik, 4633402D15Rik
MMRRC Submission 040096-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R2091 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 121358796-121434189 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 121411071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000112621]
AlphaFold Q7TQK5
Predicted Effect probably null
Transcript: ENSMUST00000036025
SMART Domains Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339

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 null
Transcript: ENSMUST00000112621
SMART Domains Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339

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
Meta Mutation Damage Score 0.9483 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
Adam9 A T 8: 25,485,200 (GRCm39) probably benign Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Angpt4 A T 2: 151,778,703 (GRCm39) probably benign Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Bicdl1 A G 5: 115,862,638 (GRCm39) S206P probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Calhm3 T A 19: 47,140,430 (GRCm39) D221V probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gbp7 A T 3: 142,251,316 (GRCm39) probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Hook3 A T 8: 26,549,422 (GRCm39) probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nbas G A 12: 13,411,046 (GRCm39) D897N probably benign Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Pik3cd A G 4: 149,737,156 (GRCm39) L880P probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Polh A T 17: 46,492,380 (GRCm39) probably benign Het
Prom1 T C 5: 44,171,428 (GRCm39) probably benign Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Ssbp1 A G 6: 40,453,433 (GRCm39) Y73C probably null Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Unc80 T A 1: 66,710,874 (GRCm39) probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly damaging Het
Zfp955a T A 17: 33,461,731 (GRCm39) K134* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GGGCCTATAAATGTGTATTCCCC -3'
(R):5'- CAGCAGCGCAGACTATACAG -3'

Sequencing Primer
(F):5'- AGCATGAGCACCTGAGTTC -3'
(R):5'- CTATACAGAGGAGGCAGCAACAC -3'
Posted On 2014-09-18