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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 5020553-5060785 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5060326 bp (GRCm38)
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: 85,863,035 Y790H probably damaging Het
Bend3 A C 10: 43,493,671 S7R probably benign Het
Ccdc162 G A 10: 41,556,001 A1832V probably damaging Het
Ccser1 A G 6: 61,311,867 E338G probably benign Het
Cd86 CA CAA 16: 36,606,555 probably null Het
Cecr2 T C 6: 120,762,529 S1406P probably benign Het
Cep290 A G 10: 100,546,498 T208A probably damaging Het
Cep85l A C 10: 53,296,255 C569W probably damaging Het
Ces5a G A 8: 93,499,526 T527I probably benign Het
Clca2 T A 3: 145,090,847 I200F probably damaging Het
Cmas G A 6: 142,770,586 D251N probably damaging Het
Ctcfl G T 2: 173,118,475 A105E probably benign Het
Dclk2 C T 3: 86,793,259 R638H probably damaging Het
Dctn6 A T 8: 34,090,808 I170N probably damaging Het
Dnah2 T C 11: 69,431,094 Y3800C probably damaging Het
Dsg2 G A 18: 20,591,931 V465I possibly damaging Het
Dzip1 T C 14: 118,885,646 T646A probably benign Het
Etv4 T A 11: 101,784,325 probably null Het
Exoc3l2 T C 7: 19,484,703 V549A unknown Het
Ficd G T 5: 113,738,819 A352S probably damaging Het
Fry T G 5: 150,466,786 I179S Het
Galntl5 A G 5: 25,195,300 H109R probably benign Het
Garem1 C A 18: 21,148,754 G182W probably damaging Het
Gm10696 T C 3: 94,176,360 E48G probably benign Het
Gm13078 T A 4: 143,726,279 D93E probably benign Het
Gm5916 A T 9: 36,120,989 Y50N possibly damaging Het
Gtf2h2 A T 13: 100,479,201 F271I probably benign Het
Hivep2 G T 10: 14,129,101 S481I probably benign Het
Homez T A 14: 54,857,420 Q277L probably damaging Het
Hoxb4 C A 11: 96,319,896 probably null Het
Igll1 A G 16: 16,861,093 S118P probably damaging Het
Ikzf2 A C 1: 69,578,053 probably null Het
Kif5b A G 18: 6,225,340 V230A probably damaging Het
Ldlr T A 9: 21,745,744 V719E probably benign Het
Lsm7 G A 10: 80,853,731 R66W possibly damaging Het
Map3k13 T A 16: 21,892,238 D90E probably benign Het
Mmrn1 A G 6: 60,976,114 K460E probably damaging Het
Myh10 A C 11: 68,790,689 N1061H probably damaging Het
Nepn A G 10: 52,400,993 Q275R probably benign Het
Noc3l A T 19: 38,812,356 D227E probably benign Het
Nploc4 G T 11: 120,428,550 S61R probably benign Het
Nr4a2 T C 2: 57,112,369 Y24C probably damaging Het
Nup160 T A 2: 90,723,355 I1143N probably damaging Het
Olfr1097 A G 2: 86,890,612 S188P probably damaging Het
Olfr1234 A T 2: 89,362,494 Y312N probably benign Het
Olfr294 G T 7: 86,615,665 H327N probably benign Het
Olfr895 T A 9: 38,268,708 M57K probably damaging Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 probably benign Het
Pgap1 A T 1: 54,493,207 probably null Het
Pitrm1 A G 13: 6,556,597 H229R probably damaging Het
Plcl1 A G 1: 55,698,218 Q906R probably benign Het
Ppfia3 T C 7: 45,341,743 N1018S probably benign Het
Prkd1 A G 12: 50,388,342 V534A possibly damaging Het
Pygm A T 19: 6,385,896 I126F probably benign Het
Rag1 T C 2: 101,642,070 Y909C probably damaging Het
Rasgrf2 G A 13: 91,884,518 Q560* probably null Het
Rbp3 A T 14: 33,962,583 I1190F possibly damaging Het
Reln T C 5: 21,978,923 K1693E probably benign Het
Rgl2 T C 17: 33,934,990 F457L possibly damaging Het
Rsph3a A G 17: 7,946,170 T121A probably benign Het
Rufy3 A G 5: 88,614,947 N112S possibly damaging Het
Ryr3 G A 2: 112,672,246 Q3548* probably null Het
Sardh A T 2: 27,218,812 V637D probably benign Het
Spata16 T C 3: 26,667,867 V179A probably benign Het
Tbc1d30 G A 10: 121,288,965 T319I probably damaging Het
Tlr2 T A 3: 83,837,606 Q390L possibly damaging Het
Tmem53 C T 4: 117,252,040 probably null Het
Vmn1r113 T A 7: 20,787,445 I54N probably damaging Het
Vmn1r223 A C 13: 23,249,866 Y210S probably damaging Het
Zbbx A T 3: 75,039,898 H670Q probably benign Het
Other mutations in Ccdc106
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Ccdc106 APN 7 5059646 missense probably damaging 1.00
R0089:Ccdc106 UTSW 7 5056221 splice site probably null
R0103:Ccdc106 UTSW 7 5057545 missense probably benign
R0103:Ccdc106 UTSW 7 5057545 missense probably benign
R0440:Ccdc106 UTSW 7 5060245 missense probably damaging 1.00
R0705:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0753:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0767:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0769:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0775:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0788:Ccdc106 UTSW 7 5057534 unclassified probably benign
R0817:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0818:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R0819:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R1161:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R1451:Ccdc106 UTSW 7 5059528 missense probably damaging 1.00
R1962:Ccdc106 UTSW 7 5059540 missense possibly damaging 0.92
R4771:Ccdc106 UTSW 7 5057522 splice site probably null
R5306:Ccdc106 UTSW 7 5058097 missense probably damaging 1.00
R5327:Ccdc106 UTSW 7 5060160 unclassified probably benign
R7467:Ccdc106 UTSW 7 5060326 missense probably damaging 0.99
R8852:Ccdc106 UTSW 7 5059571 missense probably benign 0.03
R8860:Ccdc106 UTSW 7 5059571 missense probably benign 0.03
R8959:Ccdc106 UTSW 7 5057501 missense probably benign
R9393:Ccdc106 UTSW 7 5056201 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