Incidental Mutation 'IGL03278:Ccdc134'
ID415491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc134
Ensembl Gene ENSMUSG00000068114
Gene Namecoiled-coil domain containing 134
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL03278
Quality Score
Status
Chromosome15
Chromosomal Location82127922-82142203 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 82131481 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 54 (A54V)
Ref Sequence ENSEMBL: ENSMUSP00000155805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]
Predicted Effect probably benign
Transcript: ENSMUST00000089174
AA Change: A54V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: A54V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ERK-JNK_inhib 23 223 1.7e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089178
SMART Domains Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
SCOP:d1gw5a_ 123 498 1e-3 SMART
low complexity region 956 966 N/A INTRINSIC
low complexity region 1025 1045 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186125
Predicted Effect probably benign
Transcript: ENSMUST00000188048
SMART Domains Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189540
SMART Domains Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117

DomainStartEndE-ValueType
low complexity region 523 536 N/A INTRINSIC
low complexity region 595 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229119
Predicted Effect probably benign
Transcript: ENSMUST00000229384
Predicted Effect possibly damaging
Transcript: ENSMUST00000229411
AA Change: A54V

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229456
Predicted Effect probably benign
Transcript: ENSMUST00000229597
AA Change: A54V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Ccdc134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02746:Ccdc134 APN 15 82131737 intron probably benign
IGL02941:Ccdc134 APN 15 82140950 missense probably damaging 0.98
IGL03071:Ccdc134 APN 15 82134625 missense possibly damaging 0.71
IGL03308:Ccdc134 APN 15 82131520 missense probably damaging 1.00
IGL03014:Ccdc134 UTSW 15 82130105 missense probably damaging 0.99
R0077:Ccdc134 UTSW 15 82131737 intron probably benign
R0243:Ccdc134 UTSW 15 82140946 missense probably damaging 0.98
R1107:Ccdc134 UTSW 15 82134691 missense possibly damaging 0.92
R1107:Ccdc134 UTSW 15 82134694 missense probably damaging 1.00
R1588:Ccdc134 UTSW 15 82135136 missense probably benign 0.03
R3874:Ccdc134 UTSW 15 82131442 missense possibly damaging 0.96
R6696:Ccdc134 UTSW 15 82131521 missense probably damaging 1.00
R7448:Ccdc134 UTSW 15 82140948 missense possibly damaging 0.64
R7814:Ccdc134 UTSW 15 82131523 missense probably damaging 0.96
R8088:Ccdc134 UTSW 15 82131789 intron probably benign
Posted On2016-08-02