Incidental Mutation 'R7256:Ccdc106'
ID 564267
Institutional Source Beutler Lab
Gene Symbol Ccdc106
Ensembl Gene ENSMUSG00000035228
Gene Name coiled-coil domain containing 106
Synonyms
MMRRC Submission 045317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 5056847-5063784 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5063325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 277 (T277A)
Ref Sequence ENSEMBL: ENSMUSP00000104211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000045543] [ENSMUST00000108571] [ENSMUST00000207097] [ENSMUST00000207215] [ENSMUST00000207974] [ENSMUST00000208042] [ENSMUST00000208161] [ENSMUST00000208728] [ENSMUST00000209099]
AlphaFold Q3ULM0
Predicted Effect probably benign
Transcript: ENSMUST00000005041
SMART Domains Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

DomainStartEndE-ValueType
low complexity region 23 62 N/A INTRINSIC
PDB:1JMT|B 85 112 9e-13 PDB
RRM 150 227 1.26e-11 SMART
low complexity region 242 257 N/A INTRINSIC
RRM 260 333 8.64e-19 SMART
RRM 377 462 3.04e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000045543
AA Change: T215A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: T215A

DomainStartEndE-ValueType
coiled coil region 62 101 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108571
AA Change: T277A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: T277A

DomainStartEndE-ValueType
Pfam:CCDC106 117 337 1.4e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207097
Predicted Effect probably benign
Transcript: ENSMUST00000207215
Predicted Effect probably benign
Transcript: ENSMUST00000207974
Predicted Effect probably benign
Transcript: ENSMUST00000208042
Predicted Effect probably benign
Transcript: ENSMUST00000208161
Predicted Effect probably benign
Transcript: ENSMUST00000208728
Predicted Effect probably benign
Transcript: ENSMUST00000209099
Meta Mutation Damage Score 0.6308 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,659,923 (GRCm39) Y790H probably damaging Het
Bend3 A C 10: 43,369,667 (GRCm39) S7R probably benign Het
Ccdc162 G A 10: 41,431,997 (GRCm39) A1832V probably damaging Het
Ccser1 A G 6: 61,288,851 (GRCm39) E338G probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,490 (GRCm39) S1406P probably benign Het
Cep290 A G 10: 100,382,360 (GRCm39) T208A probably damaging Het
Cep85l A C 10: 53,172,351 (GRCm39) C569W probably damaging Het
Ces5a G A 8: 94,226,154 (GRCm39) T527I probably benign Het
Clca3a2 T A 3: 144,796,608 (GRCm39) I200F probably damaging Het
Cmas G A 6: 142,716,312 (GRCm39) D251N probably damaging Het
Ctcfl G T 2: 172,960,268 (GRCm39) A105E probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dctn6 A T 8: 34,557,962 (GRCm39) I170N probably damaging Het
Dnah2 T C 11: 69,321,920 (GRCm39) Y3800C probably damaging Het
Dsg2 G A 18: 20,724,988 (GRCm39) V465I possibly damaging Het
Dzip1 T C 14: 119,123,058 (GRCm39) T646A probably benign Het
Etv4 T A 11: 101,675,151 (GRCm39) probably null Het
Exoc3l2 T C 7: 19,218,628 (GRCm39) V549A unknown Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
Fry T G 5: 150,390,251 (GRCm39) I179S Het
Galntl5 A G 5: 25,400,298 (GRCm39) H109R probably benign Het
Garem1 C A 18: 21,281,811 (GRCm39) G182W probably damaging Het
Gm5916 A T 9: 36,032,285 (GRCm39) Y50N possibly damaging Het
Gtf2h2 A T 13: 100,615,709 (GRCm39) F271I probably benign Het
Hivep2 G T 10: 14,004,845 (GRCm39) S481I probably benign Het
Homez T A 14: 55,094,877 (GRCm39) Q277L probably damaging Het
Hoxb4 C A 11: 96,210,722 (GRCm39) probably null Het
Igll1 A G 16: 16,678,957 (GRCm39) S118P probably damaging Het
Ikzf2 A C 1: 69,617,212 (GRCm39) probably null Het
Kif5b A G 18: 6,225,340 (GRCm39) V230A probably damaging Het
Ldlr T A 9: 21,657,040 (GRCm39) V719E probably benign Het
Lsm7 G A 10: 80,689,565 (GRCm39) R66W possibly damaging Het
Map3k13 T A 16: 21,710,988 (GRCm39) D90E probably benign Het
Mmrn1 A G 6: 60,953,098 (GRCm39) K460E probably damaging Het
Myh10 A C 11: 68,681,515 (GRCm39) N1061H probably damaging Het
Nepn A G 10: 52,277,089 (GRCm39) Q275R probably benign Het
Noc3l A T 19: 38,800,800 (GRCm39) D227E probably benign Het
Nploc4 G T 11: 120,319,376 (GRCm39) S61R probably benign Het
Nr4a2 T C 2: 57,002,381 (GRCm39) Y24C probably damaging Het
Nup160 T A 2: 90,553,699 (GRCm39) I1143N probably damaging Het
Or14a256 G T 7: 86,264,873 (GRCm39) H327N probably benign Het
Or4a15 A T 2: 89,192,838 (GRCm39) Y312N probably benign Het
Or8c17 T A 9: 38,180,004 (GRCm39) M57K probably damaging Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap1 A T 1: 54,532,366 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,633 (GRCm39) H229R probably damaging Het
Plcl1 A G 1: 55,737,377 (GRCm39) Q906R probably benign Het
Ppfia3 T C 7: 44,991,167 (GRCm39) N1018S probably benign Het
Pramel24 T A 4: 143,452,849 (GRCm39) D93E probably benign Het
Prkd1 A G 12: 50,435,125 (GRCm39) V534A possibly damaging Het
Pygm A T 19: 6,435,926 (GRCm39) I126F probably benign Het
Rag1 T C 2: 101,472,415 (GRCm39) Y909C probably damaging Het
Rasgrf2 G A 13: 92,032,637 (GRCm39) Q560* probably null Het
Rbp3 A T 14: 33,684,540 (GRCm39) I1190F possibly damaging Het
Reln T C 5: 22,183,921 (GRCm39) K1693E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsph3a A G 17: 8,165,002 (GRCm39) T121A probably benign Het
Rufy3 A G 5: 88,762,806 (GRCm39) N112S possibly damaging Het
Ryr3 G A 2: 112,502,591 (GRCm39) Q3548* probably null Het
Sardh A T 2: 27,108,824 (GRCm39) V637D probably benign Het
Spata16 T C 3: 26,722,016 (GRCm39) V179A probably benign Het
Spopfm2 T C 3: 94,083,667 (GRCm39) E48G probably benign Het
Tbc1d30 G A 10: 121,124,870 (GRCm39) T319I probably damaging Het
Tlr2 T A 3: 83,744,913 (GRCm39) Q390L possibly damaging Het
Tmem53 C T 4: 117,109,237 (GRCm39) probably null Het
Vmn1r113 T A 7: 20,521,370 (GRCm39) I54N probably damaging Het
Vmn1r223 A C 13: 23,434,036 (GRCm39) Y210S probably damaging Het
Zbbx A T 3: 74,947,205 (GRCm39) H670Q probably benign Het
Other mutations in Ccdc106
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Ccdc106 APN 7 5,062,645 (GRCm39) missense probably damaging 1.00
R0089:Ccdc106 UTSW 7 5,059,220 (GRCm39) splice site probably null
R0103:Ccdc106 UTSW 7 5,060,544 (GRCm39) missense probably benign
R0103:Ccdc106 UTSW 7 5,060,544 (GRCm39) missense probably benign
R0440:Ccdc106 UTSW 7 5,063,244 (GRCm39) missense probably damaging 1.00
R0705:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0753:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0767:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0769:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0775:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0788:Ccdc106 UTSW 7 5,060,533 (GRCm39) unclassified probably benign
R0817:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0818:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R0819:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R1161:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R1451:Ccdc106 UTSW 7 5,062,527 (GRCm39) missense probably damaging 1.00
R1962:Ccdc106 UTSW 7 5,062,539 (GRCm39) missense possibly damaging 0.92
R4771:Ccdc106 UTSW 7 5,060,521 (GRCm39) splice site probably null
R5306:Ccdc106 UTSW 7 5,061,096 (GRCm39) missense probably damaging 1.00
R5327:Ccdc106 UTSW 7 5,063,159 (GRCm39) unclassified probably benign
R7467:Ccdc106 UTSW 7 5,063,325 (GRCm39) missense probably damaging 0.99
R8852:Ccdc106 UTSW 7 5,062,570 (GRCm39) missense probably benign 0.03
R8860:Ccdc106 UTSW 7 5,062,570 (GRCm39) missense probably benign 0.03
R8959:Ccdc106 UTSW 7 5,060,500 (GRCm39) missense probably benign
R9393:Ccdc106 UTSW 7 5,059,200 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TATGGGGCTCCTCATGTGTC -3'
(R):5'- TCAGGAAGGGCAGCTTCTAG -3'

Sequencing Primer
(F):5'- GCTTGTTTTCAAATCTGTGTGCC -3'
(R):5'- GGCATCACCGCTTGAAGC -3'
Posted On 2019-06-26