Incidental Mutation 'IGL02746:Ccdc134'
ID 306060
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 # IGL02746
Quality Score
Status
Chromosome 15
Chromosomal Location 82012123-82026404 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 82015938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]
AlphaFold Q8C7V8
Predicted Effect probably benign
Transcript: ENSMUST00000089174
SMART Domains Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ERK-JNK_inhib 23 223 1.7e-71 PFAM
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 benign
Transcript: ENSMUST00000229411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229788
Predicted Effect silent
Transcript: ENSMUST00000229597
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cox10 G A 11: 63,855,357 (GRCm39) probably benign Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Cyb5rl A G 4: 106,925,836 (GRCm39) E6G probably benign Het
Dhrs2 T C 14: 55,478,628 (GRCm39) S258P probably damaging Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gls2 A G 10: 128,036,825 (GRCm39) D202G probably damaging Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Golph3 C T 15: 12,349,501 (GRCm39) R174W probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T possibly damaging Het
Other mutations in Ccdc134
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16