Incidental Mutation 'IGL03153:Ccdc124'
ID 411179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc124
Ensembl Gene ENSMUSG00000007721
Gene Name coiled-coil domain containing 124
Synonyms 1810023B24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03153
Quality Score
Status
Chromosome 8
Chromosomal Location 71320870-71326134 bp(-) (GRCm39)
Type of Mutation splice site (1059 bp from exon)
DNA Base Change (assembly) A to T at 71321573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007865] [ENSMUST00000212680]
AlphaFold Q9D8X2
Predicted Effect probably benign
Transcript: ENSMUST00000007865
SMART Domains Protein: ENSMUSP00000007865
Gene: ENSMUSG00000007721

DomainStartEndE-ValueType
Pfam:DUF1014 6 208 1.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050921
SMART Domains Protein: ENSMUSP00000050112
Gene: ENSMUSG00000020887

DomainStartEndE-ValueType
low complexity region 64 85 N/A INTRINSIC
transmembrane domain 104 123 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000212680
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Ccdc124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03395:Ccdc124 APN 8 71,321,251 (GRCm39) missense probably benign 0.02
R1918:Ccdc124 UTSW 8 71,321,588 (GRCm39) missense probably benign
R2357:Ccdc124 UTSW 8 71,321,179 (GRCm39) missense probably damaging 1.00
R4981:Ccdc124 UTSW 8 71,321,429 (GRCm39) missense probably benign 0.06
R7223:Ccdc124 UTSW 8 71,321,170 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02