Incidental Mutation 'IGL03308:Ccdc134'
ID 416455
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: 0.072) question?
Stock # IGL03308
Quality Score
Status
Chromosome 15
Chromosomal Location 82012123-82026404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82015721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 67 (D67G)
Ref Sequence ENSEMBL: ENSMUSP00000155805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119] [ENSMUST00000229384] [ENSMUST00000229597] [ENSMUST00000229411]
AlphaFold Q8C7V8
Predicted Effect probably damaging
Transcript: ENSMUST00000089174
AA Change: D67G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: D67G

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 probably damaging
Transcript: ENSMUST00000229597
AA Change: D67G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000229411
AA Change: D67G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229788
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,821 (GRCm39) I216V probably damaging Het
Abcc1 A G 16: 14,288,475 (GRCm39) I1367V possibly damaging Het
Ap1g2 T A 14: 55,342,333 (GRCm39) I175F probably benign Het
Atad2 A G 15: 57,965,919 (GRCm39) V671A probably benign Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Col3a1 A G 1: 45,369,777 (GRCm39) probably benign Het
Col5a3 A G 9: 20,719,675 (GRCm39) L228P unknown Het
Eef1a2 A G 2: 180,790,629 (GRCm39) probably benign Het
Fars2 T G 13: 36,388,670 (GRCm39) I53R possibly damaging Het
Frmd4a G T 2: 4,502,837 (GRCm39) A98S possibly damaging Het
Gprin1 T A 13: 54,887,957 (GRCm39) M106L probably benign Het
Hspb8 T C 5: 116,547,401 (GRCm39) T194A possibly damaging Het
Ift27 A G 15: 78,050,215 (GRCm39) S65P probably damaging Het
Inpp5d A C 1: 87,630,919 (GRCm39) Y430S probably damaging Het
Kat6b T C 14: 21,674,902 (GRCm39) S356P probably damaging Het
Limch1 C T 5: 67,159,901 (GRCm39) T443M possibly damaging Het
Mcf2l C T 8: 13,059,512 (GRCm39) R708C probably damaging Het
Mlf1 T C 3: 67,305,140 (GRCm39) W214R probably damaging Het
Naga A T 15: 82,220,088 (GRCm39) L153Q probably damaging Het
Nbas A G 12: 13,374,349 (GRCm39) Q559R possibly damaging Het
Or2ab1 T C 11: 58,488,525 (GRCm39) F101S probably damaging Het
Or2t6 T A 14: 14,175,161 (GRCm38) H307L probably benign Het
Prex2 A G 1: 11,255,399 (GRCm39) D1148G possibly damaging Het
Prss23 A C 7: 89,158,938 (GRCm39) L377R probably benign Het
Ptprc G T 1: 138,054,058 (GRCm39) T27K possibly damaging Het
Rnf213 A G 11: 119,364,998 (GRCm39) T4553A probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Skint3 T C 4: 112,111,264 (GRCm39) F130L probably damaging Het
Slc8a1 A G 17: 81,749,624 (GRCm39) probably benign Het
Stau1 T C 2: 166,792,240 (GRCm39) N433D probably damaging Het
Tapbpl G A 6: 125,205,142 (GRCm39) A268V possibly damaging Het
Tmem131l T C 3: 83,848,209 (GRCm39) I314V probably benign Het
Tmem44 A G 16: 30,362,566 (GRCm39) W151R probably damaging Het
Tnnc1 T C 14: 30,931,798 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,461 (GRCm39) N530T probably damaging Het
Ttn A G 2: 76,576,907 (GRCm39) I24662T probably damaging Het
Vmn1r49 A T 6: 90,049,341 (GRCm39) H220Q possibly damaging Het
Vmn2r106 A T 17: 20,498,785 (GRCm39) C375* probably null Het
Vps26b T C 9: 26,940,796 (GRCm39) Y41C probably damaging Het
Wdr64 T C 1: 175,594,562 (GRCm39) probably benign Het
Xylt1 C T 7: 117,236,978 (GRCm39) Q576* probably null Het
Zfp106 T C 2: 120,354,505 (GRCm39) D1422G 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
IGL03071:Ccdc134 APN 15 82,018,826 (GRCm39) missense possibly damaging 0.71
IGL03278:Ccdc134 APN 15 82,015,682 (GRCm39) missense possibly damaging 0.56
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