Incidental Mutation 'IGL02353:Ccdc121'
ID289556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc121
Ensembl Gene ENSMUSG00000050625
Gene Namecoiled-coil domain containing 121
Synonyms6530421E24Rik, LOC329308
Accession Numbers

Genbank: NM_207280; MGI: 2685601

Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL02353
Quality Score
Status
Chromosome1
Chromosomal Location181509633-181511451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181510625 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 254 (E254G)
Ref Sequence ENSEMBL: ENSMUSP00000052294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058825]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058825
AA Change: E254G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052294
Gene: ENSMUSG00000050625
AA Change: E254G

DomainStartEndE-ValueType
coiled coil region 40 71 N/A INTRINSIC
Pfam:DUF4515 77 282 5.6e-82 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,783,467 probably benign Het
Aldh18a1 A T 19: 40,577,920 V102D probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Casp6 C T 3: 129,910,526 S87L probably damaging Het
Ccnl1 A C 3: 65,948,720 C255G probably damaging Het
Celf4 T C 18: 25,486,898 I485M probably damaging Het
Cntln A G 4: 85,049,850 R769G probably damaging Het
Cyp2d12 T C 15: 82,558,970 V360A probably benign Het
Dgki T C 6: 36,847,389 E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 N607S probably benign Het
Fgd4 T C 16: 16,462,045 I383V probably damaging Het
Fgd6 C T 10: 94,138,396 T1333I possibly damaging Het
Got1 A G 19: 43,524,443 S5P probably damaging Het
Herc2 T A 7: 56,114,812 N995K probably damaging Het
Kcnma1 A G 14: 23,591,613 F159S probably damaging Het
Krt83 T C 15: 101,485,458 S456G probably benign Het
Lhb T C 7: 45,421,294 V32A possibly damaging Het
Mau2 A T 8: 70,019,638 V602E probably damaging Het
Mpst C T 15: 78,410,085 L6F probably damaging Het
Nlrp2 G A 7: 5,337,599 T72I probably damaging Het
Olfr44 A G 9: 39,485,148 I32T probably benign Het
Phldb2 T C 16: 45,748,779 Y1239C probably damaging Het
Slc22a8 T C 19: 8,608,255 F328S possibly damaging Het
Spns1 C T 7: 126,375,140 R94Q probably damaging Het
Sult2a3 G A 7: 14,121,650 R94* probably null Het
Syt16 A G 12: 74,129,471 N38S probably damaging Het
Tbc1d1 G A 5: 64,256,836 R180Q probably damaging Het
Ush2a T C 1: 188,728,438 I2632T probably benign Het
Vcam1 T A 3: 116,115,894 I595F possibly damaging Het
Other mutations in Ccdc121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Ccdc121 APN 1 181510434 missense possibly damaging 0.73
IGL02360:Ccdc121 APN 1 181510625 missense possibly damaging 0.85
R0056:Ccdc121 UTSW 1 181510553 missense probably damaging 0.98
R1552:Ccdc121 UTSW 1 181510991 missense probably damaging 0.98
R2001:Ccdc121 UTSW 1 181510986 missense probably benign 0.32
R4973:Ccdc121 UTSW 1 181511264 missense possibly damaging 0.86
R7228:Ccdc121 UTSW 1 181510967 missense probably benign 0.23
X0066:Ccdc121 UTSW 1 181511110 nonsense probably null
Posted On2015-04-16