Incidental Mutation 'IGL01345:Ccdc107'
ID75028
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: 0.065) question?
Stock #IGL01345
Quality Score
Status
Chromosome4
Chromosomal Location43492900-43495921 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 43493453 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 8 (L8*)
Ref Sequence ENSEMBL: ENSMUSP00000103555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]
Predicted Effect probably null
Transcript: ENSMUST00000030181
AA Change: L8*
SMART Domains Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: L8*

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: L8*
SMART Domains Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: L8*

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: 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Armc4 T C 18: 7,266,947 K385E probably benign Het
Atr G A 9: 95,940,949 C2323Y probably damaging Het
Erc1 T A 6: 119,761,263 K240* probably null Het
Gcat T C 15: 79,034,065 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gm8267 A G 14: 44,724,955 S3P probably damaging Het
Gpr26 T C 7: 131,967,432 F169L possibly damaging Het
Itgal T A 7: 127,300,956 F129I possibly damaging Het
Kcnk1 T A 8: 126,025,407 C251S possibly damaging Het
Nfkb1 T C 3: 135,594,981 D608G probably damaging Het
Nlrp2 T C 7: 5,317,492 E882G probably benign Het
Pik3r5 G A 11: 68,496,194 D854N possibly damaging Het
Rnf220 G A 4: 117,273,270 R253* probably null Het
Slc22a15 A C 3: 101,880,176 S259R probably benign Het
Tln1 G A 4: 43,536,281 L2004F probably damaging Het
Tlnrd1 A G 7: 83,882,846 S126P probably damaging Het
Ulk4 T C 9: 121,208,162 T587A possibly damaging Het
Vasn A G 16: 4,648,368 I60V probably benign Het
Vps33a G T 5: 123,572,943 N13K probably benign Het
Zmiz2 A G 11: 6,405,015 D862G possibly damaging Het
Zswim3 T A 2: 164,820,137 L179H probably damaging Het
Other mutations in Ccdc107
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7419:Ccdc107 UTSW 4 43493512 missense probably benign 0.27
Posted On2013-10-07