Incidental Mutation 'IGL03071:Ccdc134'
ID 417526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc134
Ensembl Gene ENSMUSG00000068114
Gene Name coiled-coil domain containing 134
Synonyms 2310042L06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL03071
Quality Score
Status
Chromosome 15
Chromosomal Location 82012123-82026404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82018826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 119 (V119M)
Ref Sequence ENSEMBL: ENSMUSP00000086578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]
AlphaFold Q8C7V8
Predicted Effect possibly damaging
Transcript: ENSMUST00000089174
AA Change: V119M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: V119M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ERK-JNK_inhib 23 223 1.7e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229384
Predicted Effect silent
Transcript: ENSMUST00000229411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229456
Predicted Effect probably benign
Transcript: ENSMUST00000229597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230582
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired liver and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 41,278,104 (GRCm39) L165H probably benign Het
Ahnak T C 19: 8,989,282 (GRCm39) I3522T possibly damaging Het
Anks1 G A 17: 28,227,173 (GRCm39) A609T probably benign Het
Apaf1 T C 10: 90,833,117 (GRCm39) D1138G possibly damaging Het
Appl2 T C 10: 83,476,970 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,313 (GRCm39) I385F possibly damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Clec2d T C 6: 129,160,165 (GRCm39) S60P probably benign Het
Cts6 A T 13: 61,350,064 (GRCm39) F6I probably damaging Het
Cyyr1 G A 16: 85,262,449 (GRCm39) H103Y probably damaging Het
Dop1a T A 9: 86,371,668 (GRCm39) S120T possibly damaging Het
Dot1l T C 10: 80,624,513 (GRCm39) S994P probably benign Het
Eya4 T G 10: 23,198,971 (GRCm39) D3A probably benign Het
Fhip2b A G 14: 70,823,649 (GRCm39) C574R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gria1 A T 11: 56,902,936 (GRCm39) probably null Het
Hectd1 T C 12: 51,815,957 (GRCm39) T1377A probably benign Het
Magi3 T G 3: 103,923,202 (GRCm39) K1172Q possibly damaging Het
Map3k1 A C 13: 111,892,059 (GRCm39) D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,717,158 (GRCm39) V242D probably damaging Het
Mrgpra3 T C 7: 47,238,929 (GRCm39) probably benign Het
Mroh9 C A 1: 162,866,766 (GRCm39) G657C probably damaging Het
Ogfod1 T C 8: 94,784,395 (GRCm39) W318R probably damaging Het
Or10j5 A G 1: 172,784,502 (GRCm39) T47A probably benign Het
Pacsin3 G A 2: 91,090,837 (GRCm39) R48H probably damaging Het
Plcb1 A G 2: 135,229,722 (GRCm39) E1114G probably damaging Het
Prkdc T G 16: 15,617,848 (GRCm39) D3226E probably benign Het
Prl4a1 A T 13: 28,204,246 (GRCm39) E96V probably benign Het
Robo4 T C 9: 37,315,580 (GRCm39) probably benign Het
Scn7a G A 2: 66,530,291 (GRCm39) L685F possibly damaging Het
Spata1 A G 3: 146,181,089 (GRCm39) Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tifa T G 3: 127,590,728 (GRCm39) Y166* probably null Het
Tnfsf10 G A 3: 27,389,769 (GRCm39) D277N probably damaging Het
Tram1 A T 1: 13,649,998 (GRCm39) Y75* probably null Het
Vmn1r60 T A 7: 5,547,368 (GRCm39) N244I probably damaging Het
Xpo4 A G 14: 57,855,685 (GRCm39) I248T possibly damaging Het
Zc2hc1a A G 3: 7,589,182 (GRCm39) probably benign Het
Zfp386 T A 12: 116,022,760 (GRCm39) H124Q probably benign Het
Other mutations in Ccdc134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02746:Ccdc134 APN 15 82,015,938 (GRCm39) intron probably benign
IGL02941:Ccdc134 APN 15 82,025,151 (GRCm39) missense probably damaging 0.98
IGL03278:Ccdc134 APN 15 82,015,682 (GRCm39) missense possibly damaging 0.56
IGL03308:Ccdc134 APN 15 82,015,721 (GRCm39) missense probably damaging 1.00
IGL03014:Ccdc134 UTSW 15 82,014,306 (GRCm39) missense probably damaging 0.99
R0077:Ccdc134 UTSW 15 82,015,938 (GRCm39) intron probably benign
R0243:Ccdc134 UTSW 15 82,025,147 (GRCm39) missense probably damaging 0.98
R1107:Ccdc134 UTSW 15 82,018,895 (GRCm39) missense probably damaging 1.00
R1107:Ccdc134 UTSW 15 82,018,892 (GRCm39) missense possibly damaging 0.92
R1588:Ccdc134 UTSW 15 82,019,337 (GRCm39) missense probably benign 0.03
R3874:Ccdc134 UTSW 15 82,015,643 (GRCm39) missense possibly damaging 0.96
R6696:Ccdc134 UTSW 15 82,015,722 (GRCm39) missense probably damaging 1.00
R7448:Ccdc134 UTSW 15 82,025,149 (GRCm39) missense possibly damaging 0.64
R7814:Ccdc134 UTSW 15 82,015,724 (GRCm39) missense probably damaging 0.96
R8088:Ccdc134 UTSW 15 82,015,990 (GRCm39) intron probably benign
Posted On 2016-08-02