Incidental Mutation 'R1161:Ccdc106'
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ID100403
Institutional Source Beutler Lab
Gene Symbol Ccdc106
Ensembl Gene ENSMUSG00000035228
Gene Namecoiled-coil domain containing 106
Synonyms
MMRRC Submission 039234-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R1161 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location5020553-5060785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 5059540 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 11 (D11N)
Ref Sequence ENSEMBL: ENSMUSP00000146978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000045543] [ENSMUST00000108571] [ENSMUST00000207097] [ENSMUST00000207215] [ENSMUST00000207974] [ENSMUST00000208728] [ENSMUST00000208042] [ENSMUST00000209099] [ENSMUST00000208161]
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 possibly damaging
Transcript: ENSMUST00000045543
AA Change: D120N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: D120N

DomainStartEndE-ValueType
coiled coil region 62 101 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108571
AA Change: D182N

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: D182N

DomainStartEndE-ValueType
Pfam:CCDC106 117 337 1.4e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149912
AA Change: G416E
Predicted Effect probably benign
Transcript: ENSMUST00000207097
Predicted Effect probably benign
Transcript: ENSMUST00000207215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207960
Predicted Effect possibly damaging
Transcript: ENSMUST00000207974
AA Change: D120N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208728
AA Change: D11N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208606
Predicted Effect probably benign
Transcript: ENSMUST00000208042
Predicted Effect probably benign
Transcript: ENSMUST00000209099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208419
Predicted Effect probably benign
Transcript: ENSMUST00000208161
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.7%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl10 T G 3: 145,930,425 V26G probably damaging Het
C4b A G 17: 34,729,593 V1581A probably damaging Het
Camk1g T C 1: 193,348,354 D349G probably benign Het
Ckap5 T G 2: 91,599,375 L1464R probably null Het
Def6 G A 17: 28,217,619 V86I probably benign Het
Dnm3 T A 1: 162,353,574 T179S probably benign Het
Dync1h1 G A 12: 110,636,509 E2195K probably benign Het
Eme1 G A 11: 94,645,542 R534C probably damaging Het
Fam160a1 A G 3: 85,672,468 I810T probably damaging Het
Fzd3 G A 14: 65,212,088 R514C probably damaging Het
H2-T24 G T 17: 36,014,996 Y234* probably null Het
Ifit1bl1 A G 19: 34,593,696 S454P possibly damaging Het
Ipcef1 T A 10: 6,980,288 probably null Het
Mmel1 C T 4: 154,895,214 R764C probably damaging Het
Olfr857 A G 9: 19,713,180 M118V probably damaging Het
Pde4c A G 8: 70,749,923 D592G possibly damaging Het
Prx T C 7: 27,519,677 F1340S probably damaging Het
Rgs7 T C 1: 175,079,455 T90A probably damaging Het
Scn11a C T 9: 119,755,057 W1497* probably null Het
Snrnp40 C G 4: 130,378,043 probably null Het
Srrm3 CAAGAAGAAGAAGAA CAAGAAGAAGAA 5: 135,854,392 probably benign Het
Svep1 T A 4: 58,069,416 Y2790F possibly damaging Het
Tmeff2 T C 1: 51,181,787 V307A probably damaging Het
Tmem38a T A 8: 72,579,970 F98I probably damaging Het
Trp73 A G 4: 154,081,323 probably null Het
Usp29 A G 7: 6,961,530 E124G probably damaging 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
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
R7256:Ccdc106 UTSW 7 5060326 missense probably damaging 0.99
R7467:Ccdc106 UTSW 7 5060326 missense probably damaging 0.99
Predicted Primers
Posted On2014-01-15