Incidental Mutation 'R9479:Ccdc115'
ID 716100
Institutional Source Beutler Lab
Gene Symbol Ccdc115
Ensembl Gene ENSMUSG00000042111
Gene Name coiled-coil domain containing 115
Synonyms Ccp1, 2310061I09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R9479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34475751-34478753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34476895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 115 (S115T)
Ref Sequence ENSEMBL: ENSMUSP00000042918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027303] [ENSMUST00000042493] [ENSMUST00000136770] [ENSMUST00000137794] [ENSMUST00000149962]
AlphaFold Q8VE99
Predicted Effect probably benign
Transcript: ENSMUST00000027303
SMART Domains Protein: ENSMUSP00000027303
Gene: ENSMUSG00000026127

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 22 71 3e-13 BLAST
Brix 86 258 2.37e-62 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000042493
AA Change: S115T

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042918
Gene: ENSMUSG00000042111
AA Change: S115T

DomainStartEndE-ValueType
coiled coil region 3 38 N/A INTRINSIC
coiled coil region 154 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136770
SMART Domains Protein: ENSMUSP00000120823
Gene: ENSMUSG00000026127

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
Blast:Brix 25 70 3e-14 BLAST
Pfam:Brix 86 147 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137794
SMART Domains Protein: ENSMUSP00000121452
Gene: ENSMUSG00000026127

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000149962
SMART Domains Protein: ENSMUSP00000141982
Gene: ENSMUSG00000026127

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Blast:Brix 26 91 4e-16 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 A G 1: 58,177,568 (GRCm39) Y261C probably benign Het
Arhgef10 T C 8: 15,047,632 (GRCm39) V1165A probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bhmt2 G A 13: 93,799,833 (GRCm39) A201V probably damaging Het
Clca4b A G 3: 144,617,100 (GRCm39) V850A probably benign Het
Commd8 A T 5: 72,318,350 (GRCm39) H144Q probably benign Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,262 (GRCm39) K701E unknown Het
Cyb5d2 A G 11: 72,669,702 (GRCm39) C219R Het
Ep400 T C 5: 110,877,730 (GRCm39) T835A unknown Het
Fam169a A G 13: 97,246,543 (GRCm39) Y228C possibly damaging Het
Fam169a A G 13: 97,250,695 (GRCm39) D342G possibly damaging Het
Fbxw21 A T 9: 108,968,612 (GRCm39) C455S probably benign Het
Fbxw26 A G 9: 109,561,625 (GRCm39) S190P probably damaging Het
Gabra5 A G 7: 57,058,440 (GRCm39) I436T Het
Gm9767 G A 10: 25,954,916 (GRCm39) G156D Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gsn T C 2: 35,186,227 (GRCm39) probably null Het
Hao1 A G 2: 134,396,204 (GRCm39) S17P probably benign Het
Hspa1l A G 17: 35,196,735 (GRCm39) N258S probably benign Het
Isyna1 C T 8: 71,048,193 (GRCm39) R200C probably damaging Het
Itgb2 A T 10: 77,396,942 (GRCm39) K659M probably benign Het
Klf11 T C 12: 24,705,029 (GRCm39) M161T probably benign Het
Ktn1 A T 14: 47,962,174 (GRCm39) K1114N probably damaging Het
Lonrf1 G A 8: 36,697,668 (GRCm39) R439* probably null Het
Lrrc26 C T 2: 25,180,571 (GRCm39) P191S probably benign Het
Ogdh T C 11: 6,297,854 (GRCm39) I576T possibly damaging Het
Or10al4 T C 17: 38,036,986 (GRCm39) S24P probably damaging Het
Or14c45 T C 7: 86,176,285 (GRCm39) C107R possibly damaging Het
Or14j4 A G 17: 37,920,718 (GRCm39) F308S probably damaging Het
Or4k40 A T 2: 111,251,013 (GRCm39) F94L probably damaging Het
Or4p20 T C 2: 88,253,677 (GRCm39) R231G probably damaging Het
Or7g20 G A 9: 18,946,730 (GRCm39) V104I probably benign Het
Pcnt A G 10: 76,217,963 (GRCm39) V2104A probably benign Het
Pds5a G A 5: 65,792,747 (GRCm39) R729W probably damaging Het
Pgap1 G A 1: 54,582,275 (GRCm39) Q191* probably null Het
Pglyrp3 A G 3: 91,935,310 (GRCm39) I187V probably benign Het
Pkdrej T A 15: 85,699,571 (GRCm39) I2122F possibly damaging Het
Pold1 G A 7: 44,191,079 (GRCm39) R251W probably damaging Het
Prr22 A G 17: 57,078,335 (GRCm39) M163V probably benign Het
Ptprc A T 1: 138,001,388 (GRCm39) N814K probably benign Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rbm22 T C 18: 60,699,492 (GRCm39) L147P probably damaging Het
Rgsl1 G A 1: 153,657,445 (GRCm39) S391F unknown Het
Rnf13 A T 3: 57,727,983 (GRCm39) D221V possibly damaging Het
Senp2 T A 16: 21,842,398 (GRCm39) L154Q probably damaging Het
Srfbp1 A G 18: 52,621,332 (GRCm39) Q131R possibly damaging Het
Tmprss11a A T 5: 86,562,402 (GRCm39) Y314* probably null Het
Ttn G T 2: 76,666,286 (GRCm39) P11590Q unknown Het
Txnrd3 C T 6: 89,640,084 (GRCm39) T266M possibly damaging Het
Zfp810 T C 9: 22,194,497 (GRCm39) S64G possibly damaging Het
Other mutations in Ccdc115
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0452:Ccdc115 UTSW 1 34,476,702 (GRCm39) unclassified probably benign
R6862:Ccdc115 UTSW 1 34,478,364 (GRCm39) missense possibly damaging 0.65
R6983:Ccdc115 UTSW 1 34,478,122 (GRCm39) critical splice donor site probably null
R9539:Ccdc115 UTSW 1 34,477,930 (GRCm39) critical splice donor site probably null
R9747:Ccdc115 UTSW 1 34,478,001 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGGTAAGATCCATGGAGTGCC -3'
(R):5'- AGAATTGTCTGTCCTGGAAGTCAG -3'

Sequencing Primer
(F):5'- CATGGAGTGCCGCCCCC -3'
(R):5'- TGTCTGTCCTGGAAGTCAGAATAGAC -3'
Posted On 2022-07-18