Incidental Mutation 'R0028:Ccdc107'
ID15677
Institutional Source Beutler Lab
Gene Symbol Ccdc107
Ensembl Gene ENSMUSG00000028461
Gene Namecoiled-coil domain containing 107
Synonyms1110032O22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R0028 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location43492900-43495921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43495549 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 151 (T151A)
Ref Sequence ENSEMBL: ENSMUSP00000103555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]
Predicted Effect probably benign
Transcript: ENSMUST00000030181
AA Change: T151A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: T151A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 97 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054538
SMART Domains Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
RhoGEF 26 196 4.92e-31 SMART
PH 228 333 5.71e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107922
AA Change: T151A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: T151A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 97 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129378
Predicted Effect probably benign
Transcript: ENSMUST00000136005
SMART Domains Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
Pfam:RhoGEF 53 153 2.5e-18 PFAM
PH 154 256 1.97e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147124
Predicted Effect probably benign
Transcript: ENSMUST00000152134
SMART Domains Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517

DomainStartEndE-ValueType
Blast:PH 2 82 7e-38 BLAST
SCOP:d1kz7a2 2 88 4e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226420
Meta Mutation Damage Score 0.114 question?
Coding Region Coverage
  • 1x: 80.7%
  • 3x: 72.7%
  • 10x: 50.3%
  • 20x: 30.1%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,377,724 F384L probably benign Het
AC159748.1 T C 10: 5,542,006 silent Het
Adamts12 C T 15: 11,215,624 R244C probably damaging Het
Bms1 T C 6: 118,416,519 I131V probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col4a4 A G 1: 82,487,510 probably null Het
Creb1 A G 1: 64,570,148 D126G probably damaging Het
Ddb1 T A 19: 10,619,246 V443E probably damaging Het
Dnmt3a T A 12: 3,900,337 S634T probably damaging Het
Fras1 A C 5: 96,677,316 N1455T probably benign Het
Fyb A G 15: 6,644,914 probably benign Het
Gpr141 C T 13: 19,752,429 V59M probably damaging Het
Ikbke T C 1: 131,272,184 I222V possibly damaging Het
Macf1 A T 4: 123,382,102 H6222Q probably damaging Het
Mapk8ip3 C T 17: 24,904,897 probably benign Het
Phactr1 A T 13: 43,057,179 D74V probably damaging Het
Prickle2 T C 6: 92,422,342 I185V probably benign Het
Rnasel A T 1: 153,754,719 D327V probably benign Het
Slc25a13 T C 6: 6,181,047 N46D probably benign Het
Slc28a2 T A 2: 122,451,602 F261L probably damaging Het
Slc6a15 A T 10: 103,416,680 Y568F probably benign Het
Slc7a1 A G 5: 148,335,511 V452A probably benign Het
Tectb T C 19: 55,194,677 I330T probably benign Het
Tmem92 C T 11: 94,778,952 V118I possibly damaging Het
Tmf1 T C 6: 97,158,098 E985G probably damaging Het
Traf5 T A 1: 192,074,121 probably benign Het
Trip11 T C 12: 101,884,757 E731G probably damaging Het
Unc5a A G 13: 55,003,913 S50G possibly damaging Het
Wrnip1 T C 13: 32,820,297 L517P probably damaging Het
Zfp202 T A 9: 40,211,752 H603Q probably damaging Het
Other mutations in Ccdc107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Ccdc107 APN 4 43493453 nonsense probably null
IGL01469:Ccdc107 APN 4 43495751 missense probably benign 0.37
IGL02160:Ccdc107 APN 4 43495736 missense probably damaging 0.99
IGL02884:Ccdc107 APN 4 43495228 nonsense probably null
R2027:Ccdc107 UTSW 4 43495874 missense probably benign 0.35
R5435:Ccdc107 UTSW 4 43493519 missense probably damaging 0.99
R5546:Ccdc107 UTSW 4 43495685 missense probably damaging 0.97
R7419:Ccdc107 UTSW 4 43493512 missense probably benign 0.27
Posted On2012-12-21