Incidental Mutation 'R6549:Ccdc54'
ID 521465
Institutional Source Beutler Lab
Gene Symbol Ccdc54
Ensembl Gene ENSMUSG00000050685
Gene Name coiled-coil domain containing 54
Synonyms 1700007N18Rik
MMRRC Submission 044674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 50410222-50411517 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50410388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 293 (R293G)
Ref Sequence ENSEMBL: ENSMUSP00000049864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062439]
AlphaFold Q9DAL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000062439
AA Change: R293G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049864
Gene: ENSMUSG00000050685
AA Change: R293G

DomainStartEndE-ValueType
low complexity region 36 45 N/A INTRINSIC
coiled coil region 79 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231324
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm T C 9: 53,404,477 (GRCm39) D1288G probably benign Het
Atxn7 T C 14: 14,013,087 (GRCm38) S2P probably damaging Het
C1rl T A 6: 124,485,487 (GRCm39) I286N probably benign Het
Cndp1 A T 18: 84,654,309 (GRCm39) I85K probably benign Het
Col25a1 A G 3: 129,976,444 (GRCm39) T110A probably benign Het
Defb8 G T 8: 19,497,560 (GRCm39) P17Q probably damaging Het
Dnah1 A T 14: 30,991,340 (GRCm39) L3146Q probably damaging Het
Espn A T 4: 152,215,525 (GRCm39) M1K probably null Het
Gm9922 C A 14: 101,966,893 (GRCm39) probably benign Het
Hycc2 T C 1: 58,578,759 (GRCm39) I264V probably benign Het
Ldb3 A G 14: 34,263,854 (GRCm39) M545T probably damaging Het
Or8k30 A T 2: 86,339,726 (GRCm39) I308L probably benign Het
Piezo1 G A 8: 123,227,002 (GRCm39) H420Y Het
Primpol A T 8: 47,058,185 (GRCm39) L115I probably damaging Het
Pus10 G A 11: 23,679,075 (GRCm39) probably null Het
Rictor C G 15: 6,825,656 (GRCm39) A1689G probably damaging Het
Scn2a A G 2: 65,595,018 (GRCm39) N1956D probably benign Het
Scn4a T C 11: 106,234,791 (GRCm39) D384G probably damaging Het
Sell A G 1: 163,893,198 (GRCm39) D138G probably damaging Het
Slc4a7 T A 14: 14,748,564 (GRCm38) F327L probably damaging Het
Sox6 A G 7: 115,085,927 (GRCm39) I680T possibly damaging Het
Synj1 A G 16: 90,735,565 (GRCm39) S1463P probably benign Het
Vmn1r31 A T 6: 58,449,648 (GRCm39) N72K possibly damaging Het
Vmn2r77 A G 7: 86,450,065 (GRCm39) I104V probably benign Het
Zfp988 G A 4: 147,416,310 (GRCm39) C248Y probably benign Het
Other mutations in Ccdc54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Ccdc54 APN 16 50,410,280 (GRCm39) missense possibly damaging 0.92
IGL01636:Ccdc54 APN 16 50,410,277 (GRCm39) makesense probably null
IGL01918:Ccdc54 APN 16 50,411,215 (GRCm39) nonsense probably null
IGL03205:Ccdc54 APN 16 50,411,254 (GRCm39) missense possibly damaging 0.94
PIT4382001:Ccdc54 UTSW 16 50,411,219 (GRCm39) missense probably damaging 0.97
PIT4544001:Ccdc54 UTSW 16 50,410,343 (GRCm39) missense possibly damaging 0.66
R0053:Ccdc54 UTSW 16 50,410,597 (GRCm39) missense probably benign 0.23
R0053:Ccdc54 UTSW 16 50,410,597 (GRCm39) missense probably benign 0.23
R0312:Ccdc54 UTSW 16 50,411,165 (GRCm39) missense possibly damaging 0.66
R1742:Ccdc54 UTSW 16 50,410,601 (GRCm39) missense possibly damaging 0.66
R2054:Ccdc54 UTSW 16 50,410,987 (GRCm39) missense probably damaging 0.97
R4594:Ccdc54 UTSW 16 50,410,380 (GRCm39) nonsense probably null
R7034:Ccdc54 UTSW 16 50,410,951 (GRCm39) missense probably benign 0.04
R7658:Ccdc54 UTSW 16 50,410,844 (GRCm39) missense probably benign 0.09
R7873:Ccdc54 UTSW 16 50,410,672 (GRCm39) missense probably benign
R8064:Ccdc54 UTSW 16 50,410,327 (GRCm39) missense probably benign 0.00
R9707:Ccdc54 UTSW 16 50,411,163 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CAGCAAGCTAGAGTCCACAG -3'
(R):5'- AAAATGCATCAGTGGGTTGC -3'

Sequencing Primer
(F):5'- AGCTAGAGTCCACAGGCAGC -3'
(R):5'- TGCATCAGTGGGTTGCAAAAAG -3'
Posted On 2018-06-06