Incidental Mutation 'IGL02028:Ccdc106'
ID184271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc106
Ensembl Gene ENSMUSG00000035228
Gene Namecoiled-coil domain containing 106
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02028
Quality Score
Status
Chromosome7
Chromosomal Location5020553-5060785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5059646 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 155 (Q155R)
Ref Sequence ENSEMBL: ENSMUSP00000146775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000045543] [ENSMUST00000108571] [ENSMUST00000207097] [ENSMUST00000207215] [ENSMUST00000207974] [ENSMUST00000208042] [ENSMUST00000208728] [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 probably damaging
Transcript: ENSMUST00000045543
AA Change: Q155R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: Q155R

DomainStartEndE-ValueType
coiled coil region 62 101 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108571
AA Change: Q217R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: Q217R

DomainStartEndE-ValueType
Pfam:CCDC106 117 337 1.4e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145534
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 probably damaging
Transcript: ENSMUST00000207974
AA Change: Q155R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000208042
Predicted Effect probably benign
Transcript: ENSMUST00000208728
AA Change: Q46R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208419
Predicted Effect probably benign
Transcript: ENSMUST00000209099
Predicted Effect probably benign
Transcript: ENSMUST00000208161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208606
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 Y53C probably damaging Het
Acacb T A 5: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Morc2b T A 17: 33,137,413 I462F possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr1289 T C 2: 111,483,471 F14L probably benign Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Ribc2 A G 15: 85,143,335 D339G possibly damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Ccdc106
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7256:Ccdc106 UTSW 7 5060326 missense probably damaging 0.99
R7467:Ccdc106 UTSW 7 5060326 missense probably damaging 0.99
Posted On2014-05-07