Incidental Mutation 'IGL02353:Ccdc121rt1'
ID 289556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc121rt1
Ensembl Gene ENSMUSG00000050625
Gene Name coiled-coil domain containing 121, retrogene 1
Synonyms 6530421E24Rik, LOC329308, Ccdc121
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02353
Quality Score
Status
Chromosome 1
Chromosomal Location 181337198-181339016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181338190 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9Q6D3
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
Aldh18a1 A T 19: 40,566,364 (GRCm39) V102D probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Casp6 C T 3: 129,704,175 (GRCm39) S87L probably damaging Het
Ccnl1 A C 3: 65,856,141 (GRCm39) C255G probably damaging Het
Celf4 T C 18: 25,619,955 (GRCm39) I485M probably damaging Het
Cntln A G 4: 84,968,087 (GRCm39) R769G probably damaging Het
Cstdc1 A G 2: 148,625,387 (GRCm39) probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Dgki T C 6: 36,824,324 (GRCm39) E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 (GRCm39) N607S probably benign Het
Fgd4 T C 16: 16,279,909 (GRCm39) I383V probably damaging Het
Fgd6 C T 10: 93,974,258 (GRCm39) T1333I possibly damaging Het
Got1 A G 19: 43,512,882 (GRCm39) S5P probably damaging Het
Herc2 T A 7: 55,764,560 (GRCm39) N995K probably damaging Het
Kcnma1 A G 14: 23,641,681 (GRCm39) F159S probably damaging Het
Krt87 T C 15: 101,383,339 (GRCm39) S456G probably benign Het
Lhb T C 7: 45,070,718 (GRCm39) V32A possibly damaging Het
Mau2 A T 8: 70,472,288 (GRCm39) V602E probably damaging Het
Mpst C T 15: 78,294,285 (GRCm39) L6F probably damaging Het
Nlrp2 G A 7: 5,340,598 (GRCm39) T72I probably damaging Het
Or8g20 A G 9: 39,396,444 (GRCm39) I32T probably benign Het
Phldb2 T C 16: 45,569,142 (GRCm39) Y1239C probably damaging Het
Slc22a8 T C 19: 8,585,619 (GRCm39) F328S possibly damaging Het
Spns1 C T 7: 125,974,312 (GRCm39) R94Q probably damaging Het
Sult2a3 G A 7: 13,855,575 (GRCm39) R94* probably null Het
Syt16 A G 12: 74,176,245 (GRCm39) N38S probably damaging Het
Tbc1d1 G A 5: 64,414,179 (GRCm39) R180Q probably damaging Het
Ush2a T C 1: 188,460,635 (GRCm39) I2632T probably benign Het
Vcam1 T A 3: 115,909,543 (GRCm39) I595F possibly damaging Het
Other mutations in Ccdc121rt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Ccdc121rt1 APN 1 181,337,999 (GRCm39) missense possibly damaging 0.73
IGL02360:Ccdc121rt1 APN 1 181,338,190 (GRCm39) missense possibly damaging 0.85
R0056:Ccdc121rt1 UTSW 1 181,338,118 (GRCm39) missense probably damaging 0.98
R1552:Ccdc121rt1 UTSW 1 181,338,556 (GRCm39) missense probably damaging 0.98
R2001:Ccdc121rt1 UTSW 1 181,338,551 (GRCm39) missense probably benign 0.32
R4973:Ccdc121rt1 UTSW 1 181,338,829 (GRCm39) missense possibly damaging 0.86
R7228:Ccdc121rt1 UTSW 1 181,338,532 (GRCm39) missense probably benign 0.23
R7502:Ccdc121rt1 UTSW 1 181,338,443 (GRCm39) nonsense probably null
R9657:Ccdc121rt1 UTSW 1 181,338,104 (GRCm39) missense probably benign 0.06
X0066:Ccdc121rt1 UTSW 1 181,338,675 (GRCm39) nonsense probably null
Z1176:Ccdc121rt1 UTSW 1 181,338,440 (GRCm39) missense possibly damaging 0.71
Z1177:Ccdc121rt1 UTSW 1 181,338,304 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16