Incidental Mutation 'IGL02884:Ccdc107'
ID362933
Institutional Source Australian Phenomics Network (link to record)
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: 0.084) question?
Stock #IGL02884
Quality Score
Status
Chromosome4
Chromosomal Location43492900-43495921 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 43495228 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 98 (K98*)
Ref Sequence ENSEMBL: ENSMUSP00000103555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]
Predicted Effect probably null
Transcript: ENSMUST00000030181
AA Change: K98*
SMART Domains Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: K98*

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 null
Transcript: ENSMUST00000107922
AA Change: K98*
SMART Domains Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: K98*

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
Coding Region Coverage
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,287,476 I121V probably benign Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akap11 A T 14: 78,498,962 M1797K probably benign Het
Akap6 T A 12: 52,886,622 I299N probably benign Het
Akr1c12 A T 13: 4,272,212 M277K possibly damaging Het
Ankrd17 A T 5: 90,264,757 M1236K probably damaging Het
Arhgef11 A G 3: 87,728,006 D874G probably damaging Het
Atg4b T C 1: 93,787,715 probably benign Het
Bcl9 G A 3: 97,210,052 P442L probably damaging Het
Ccdc129 T C 6: 55,874,354 probably null Het
Cenpl A G 1: 161,086,049 Q343R probably benign Het
Cep104 T C 4: 153,989,862 C524R probably damaging Het
Clec3b C T 9: 123,156,762 T75I probably benign Het
Col13a1 A T 10: 61,905,285 probably benign Het
Crot C T 5: 8,978,197 probably null Het
Ddo G A 10: 40,637,364 V101I probably benign Het
Disp2 T C 2: 118,787,551 probably benign Het
Dnmt3b A C 2: 153,674,377 Y474S probably damaging Het
Dpp6 T A 5: 27,634,556 N298K possibly damaging Het
Fbf1 C T 11: 116,146,513 E940K probably damaging Het
Fgd6 A G 10: 94,045,639 probably benign Het
H2-M10.2 T C 17: 36,284,676 R241G probably damaging Het
Haghl A T 17: 25,783,098 F207Y possibly damaging Het
Helt G A 8: 46,292,583 R88C probably damaging Het
Igf2bp2 T C 16: 22,162,885 K27E probably benign Het
Il1b T C 2: 129,365,102 H246R probably benign Het
Kcnu1 C T 8: 25,921,528 S167L probably damaging Het
Kif16b A T 2: 142,702,614 probably benign Het
Myh7 A T 14: 54,992,819 S19T probably benign Het
Ncaph2 T C 15: 89,364,244 probably null Het
Nlrp4c T C 7: 6,098,952 L879P probably damaging Het
Nqo2 T A 13: 33,972,361 N19K probably damaging Het
Olfr456 C T 6: 42,486,606 V196M probably damaging Het
Osbpl1a C A 18: 12,819,578 G93* probably null Het
Pdxdc1 A G 16: 13,843,795 F459L possibly damaging Het
Phc2 A T 4: 128,708,016 H88L probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A T 17: 42,502,449 T414S possibly damaging Het
Rab7b A G 1: 131,698,542 R103G probably damaging Het
Retnla A G 16: 48,842,580 Y3C probably benign Het
Samd7 G A 3: 30,756,173 R113H probably damaging Het
Shisa9 G A 16: 11,997,043 probably benign Het
Soat1 A T 1: 156,441,356 I208N possibly damaging Het
Stab1 C A 14: 31,150,143 probably null Het
Tti2 C T 8: 31,151,477 L210F possibly damaging Het
Ube2v2 A G 16: 15,556,485 V77A probably benign Het
Ubr5 T C 15: 37,998,376 E1617G probably damaging Het
Vmn2r16 T A 5: 109,360,891 I495K possibly damaging Het
Vwce G T 19: 10,646,579 R278L possibly damaging Het
Wdr26 C T 1: 181,182,784 A551T probably damaging Het
Wee1 A G 7: 110,126,062 I304V probably benign Het
Xrcc5 C T 1: 72,346,237 H496Y possibly damaging Het
Zfp142 G T 1: 74,571,983 S884R 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
R0028:Ccdc107 UTSW 4 43495549 missense probably benign
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
Posted On2015-12-18