Incidental Mutation 'IGL03395:Ccdc124'
ID421234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc124
Ensembl Gene ENSMUSG00000007721
Gene Namecoiled-coil domain containing 124
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03395
Quality Score
Status
Chromosome8
Chromosomal Location70868227-70873935 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 70868607 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 163 (M163R)
Ref Sequence ENSEMBL: ENSMUSP00000007865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007865] [ENSMUST00000212680]
Predicted Effect probably benign
Transcript: ENSMUST00000007865
AA Change: M163R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000007865
Gene: ENSMUSG00000007721
AA Change: M163R

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 benign
Transcript: ENSMUST00000212680
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik G T 7: 139,976,676 probably benign Het
9330182L06Rik A T 5: 9,422,359 Q352L probably damaging Het
Adam11 A G 11: 102,772,920 D308G probably damaging Het
Adgrg3 A T 8: 95,035,073 I155F probably damaging Het
Ado T C 10: 67,548,538 Y79C probably benign Het
Aox1 T C 1: 58,068,725 probably benign Het
Bicd2 T A 13: 49,375,258 D165E probably damaging Het
Ceacam5 T C 7: 17,745,379 probably benign Het
Cenpq A G 17: 40,923,558 L247P probably damaging Het
Crat A G 2: 30,404,966 V479A probably benign Het
Egfr T C 11: 16,910,261 probably benign Het
Emc9 C T 14: 55,584,740 A72T probably benign Het
Fbxo5 G A 10: 5,801,935 S226F probably benign Het
Gm42688 A C 6: 83,108,371 E737D possibly damaging Het
Got1l1 G T 8: 27,200,857 H54Q probably benign Het
Grid2 G A 6: 63,909,069 V150I possibly damaging Het
Klc4 C T 17: 46,632,863 V506M probably damaging Het
Lrrc8c A G 5: 105,606,629 N90S probably benign Het
Lrrk2 T A 15: 91,797,414 probably null Het
Mbd6 G A 10: 127,283,417 R950C probably damaging Het
Nol11 A G 11: 107,175,722 V414A probably benign Het
Olfr18 A T 9: 20,314,551 M123K probably damaging Het
Pcnt T C 10: 76,436,491 E177G possibly damaging Het
Pcnx2 G T 8: 125,887,523 D396E probably benign Het
Pcyt2 A T 11: 120,613,050 probably null Het
Pds5a T C 5: 65,652,449 D390G possibly damaging Het
Pik3r2 T C 8: 70,772,355 T155A probably benign Het
Rab31 T A 17: 65,696,367 H95L probably benign Het
Rfx5 C T 3: 94,957,802 R259* probably null Het
Slc6a17 T C 3: 107,477,306 D285G probably damaging Het
Spats2l A T 1: 57,938,016 I318F probably damaging Het
Tcf12 A G 9: 71,876,022 S361P probably damaging Het
Other mutations in Ccdc124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03153:Ccdc124 APN 8 70868929 splice site probably null
R1918:Ccdc124 UTSW 8 70868944 missense probably benign
R2357:Ccdc124 UTSW 8 70868535 missense probably damaging 1.00
R4981:Ccdc124 UTSW 8 70868785 missense probably benign 0.06
R7223:Ccdc124 UTSW 8 70868526 missense probably damaging 1.00
Posted On2016-08-02