Incidental Mutation 'R0452:Ccdc115'
ID 39647
Institutional Source Beutler Lab
Gene Symbol Ccdc115
Ensembl Gene ENSMUSG00000042111
Gene Name coiled-coil domain containing 115
Synonyms Ccp1, 2310061I09Rik
MMRRC Submission 038652-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R0452 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34475751-34478753 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 34476702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141982 (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 probably benign
Transcript: ENSMUST00000042493
SMART Domains Protein: ENSMUSP00000042918
Gene: ENSMUSG00000042111

DomainStartEndE-ValueType
coiled coil region 3 38 N/A INTRINSIC
coiled coil region 154 175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134327
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 noncoding transcript
Transcript: ENSMUST00000188583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191315
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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 99% (93/94)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik A G 8: 107,233,822 (GRCm39) probably benign Het
Acap3 C A 4: 155,986,785 (GRCm39) S347* probably null Het
Acvr1 G A 2: 58,390,507 (GRCm39) P19L probably benign Het
Add2 G T 6: 86,081,611 (GRCm39) E366* probably null Het
Ankrd28 C A 14: 31,470,695 (GRCm39) A153S probably damaging Het
Anxa8 A T 14: 33,816,727 (GRCm39) I206F probably damaging Het
Arhgef4 G A 1: 34,771,403 (GRCm39) E1237K probably damaging Het
Arid1a C T 4: 133,416,416 (GRCm39) A1120T unknown Het
Atad5 T C 11: 79,997,247 (GRCm39) V857A probably damaging Het
Atp2a3 T A 11: 72,868,058 (GRCm39) probably null Het
Atxn1l C T 8: 110,459,027 (GRCm39) V412I possibly damaging Het
Card11 A G 5: 140,866,125 (GRCm39) S923P probably benign Het
Cars1 C A 7: 143,146,362 (GRCm39) E21* probably null Het
Ccnj T A 19: 40,833,508 (GRCm39) probably null Het
Cds2 C T 2: 132,140,399 (GRCm39) T182I probably damaging Het
Ceacam14 A G 7: 17,549,248 (GRCm39) H213R probably benign Het
Cfap44 A T 16: 44,252,308 (GRCm39) M806L probably benign Het
Chd8 A T 14: 52,452,044 (GRCm39) I1317K probably damaging Het
Cherp A T 8: 73,215,366 (GRCm39) probably benign Het
Creb5 C G 6: 53,581,527 (GRCm39) T30S possibly damaging Het
Csf2ra A G 19: 61,215,333 (GRCm39) M94T probably benign Het
Cyp2b19 A C 7: 26,466,187 (GRCm39) D330A probably benign Het
Ddost G A 4: 138,037,499 (GRCm39) V188M possibly damaging Het
Dnah7a A T 1: 53,644,978 (GRCm39) D1019E probably benign Het
Dtx1 A T 5: 120,833,057 (GRCm39) I127N possibly damaging Het
Dyrk2 T C 10: 118,704,668 (GRCm39) T3A possibly damaging Het
Elovl5 C T 9: 77,868,193 (GRCm39) T35M probably damaging Het
Emc7 T C 2: 112,297,314 (GRCm39) probably benign Het
Erp27 T C 6: 136,886,487 (GRCm39) Y182C probably damaging Het
Exoc2 T A 13: 31,070,310 (GRCm39) probably benign Het
F5 A C 1: 164,012,676 (GRCm39) D530A probably damaging Het
Fam149a A T 8: 45,808,686 (GRCm39) V149E probably damaging Het
Fbxo41 A G 6: 85,455,164 (GRCm39) S614P probably damaging Het
Fmn1 T A 2: 113,467,124 (GRCm39) Y1342N possibly damaging Het
Gpr22 T A 12: 31,758,793 (GRCm39) D443V possibly damaging Het
Il17rd T A 14: 26,813,888 (GRCm39) W56R probably damaging Het
Itga2b A T 11: 102,356,779 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,261 (GRCm39) M2514T probably benign Het
Klk1b9 T C 7: 43,443,675 (GRCm39) probably benign Het
Krr1 T C 10: 111,811,503 (GRCm39) Y66H probably damaging Het
Lamb2 T C 9: 108,363,553 (GRCm39) probably benign Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrp10 T C 14: 54,705,036 (GRCm39) V113A probably benign Het
Mgam A G 6: 40,736,024 (GRCm39) Y841C probably damaging Het
Nisch T A 14: 30,899,421 (GRCm39) probably benign Het
Nlrp4d G A 7: 10,112,219 (GRCm39) T650I probably benign Het
Or4f61 T A 2: 111,922,981 (GRCm39) K22* probably null Het
Or5p78 C T 7: 108,211,577 (GRCm39) T21I possibly damaging Het
Parp4 A G 14: 56,886,300 (GRCm39) D1793G unknown Het
Pcm1 A G 8: 41,778,942 (GRCm39) D1850G probably benign Het
Pgap2 G A 7: 101,885,669 (GRCm39) A145T probably damaging Het
Phc1 G A 6: 122,299,995 (GRCm39) A583V probably damaging Het
Plcd3 G A 11: 102,962,085 (GRCm39) probably benign Het
Ppm1m T A 9: 106,074,501 (GRCm39) Q214L probably damaging Het
Prkg2 A G 5: 99,145,379 (GRCm39) probably benign Het
Prss3l A G 6: 41,422,271 (GRCm39) Y45H probably benign Het
Rasal3 T C 17: 32,614,791 (GRCm39) probably benign Het
Rfc1 A T 5: 65,421,640 (GRCm39) D1086E probably benign Het
Rnf145 T A 11: 44,452,587 (GRCm39) L522H probably damaging Het
Setd2 T A 9: 110,382,168 (GRCm39) probably null Het
Sik1 C A 17: 32,068,055 (GRCm39) V377F possibly damaging Het
Slc44a4 T C 17: 35,147,071 (GRCm39) I367T possibly damaging Het
Slfn3 A G 11: 83,103,954 (GRCm39) D275G possibly damaging Het
Smarcad1 A T 6: 65,051,806 (GRCm39) N313I possibly damaging Het
Smc4 A T 3: 68,915,361 (GRCm39) K138* probably null Het
Smg6 T A 11: 74,821,039 (GRCm39) S437T probably benign Het
Spaca9 G T 2: 28,586,005 (GRCm39) Q20K probably damaging Het
Spatc1 T G 15: 76,152,493 (GRCm39) I41S probably damaging Het
Spink5 A T 18: 44,096,385 (GRCm39) T5S possibly damaging Het
St3gal1 C A 15: 66,981,504 (GRCm39) probably benign Het
Stat5a C A 11: 100,753,961 (GRCm39) T97K probably benign Het
Stat5b A T 11: 100,689,156 (GRCm39) I246N probably benign Het
Supt6 G T 11: 78,117,829 (GRCm39) D462E probably damaging Het
Swi5 A T 2: 32,171,836 (GRCm39) probably benign Het
Syne1 A T 10: 5,355,435 (GRCm39) V375E probably damaging Het
Tcp1 T C 17: 13,143,239 (GRCm39) F516S probably benign Het
Tdrd7 A T 4: 45,965,488 (GRCm39) probably benign Het
Tgfbr3 A T 5: 107,288,289 (GRCm39) N457K probably benign Het
Tmem209 A G 6: 30,487,380 (GRCm39) M500T probably damaging Het
Tmem44 C T 16: 30,336,281 (GRCm39) probably benign Het
Ttc21a T A 9: 119,768,220 (GRCm39) probably benign Het
Ttn A G 2: 76,701,454 (GRCm39) probably benign Het
Ttn T A 2: 76,666,347 (GRCm39) I88F possibly damaging Het
Ube2w T C 1: 16,672,479 (GRCm39) probably benign Het
Ufc1 C T 1: 171,117,527 (GRCm39) probably benign Het
Uhmk1 A G 1: 170,039,971 (GRCm39) M132T possibly damaging Het
Usp29 A G 7: 6,966,181 (GRCm39) N675D possibly damaging Het
Vmn1r23 A G 6: 57,903,469 (GRCm39) V103A possibly damaging Het
Wdr59 G T 8: 112,248,604 (GRCm39) R4S possibly damaging Het
Zc3hav1 T A 6: 38,284,372 (GRCm39) E914D probably benign Het
Other mutations in Ccdc115
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9479:Ccdc115 UTSW 1 34,476,895 (GRCm39) missense possibly damaging 0.56
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'- ATGCTCAGTGCCTCCCAATGTG -3'
(R):5'- AGGACTGTATGGCCTTTCTTTCAGC -3'

Sequencing Primer
(F):5'- TCCCAATGTGGATGCAGGTC -3'
(R):5'- AGGATCTGCTGTAGTTCCTCAAG -3'
Posted On 2013-05-23