Incidental Mutation 'R4287:Ccdc82'
ID322068
Institutional Source Beutler Lab
Gene Symbol Ccdc82
Ensembl Gene ENSMUSG00000079084
Gene Namecoiled-coil domain containing 82
Synonyms
MMRRC Submission 041652-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R4287 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location13246955-13292520 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 13253418 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 303 (Q303K)
Ref Sequence ENSEMBL: ENSMUSP00000150947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000216578] [ENSMUST00000217444]
Predicted Effect probably benign
Transcript: ENSMUST00000110583
AA Change: Q303K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: Q303K

DomainStartEndE-ValueType
low complexity region 38 70 N/A INTRINSIC
Pfam:DUF4196 98 211 1.8e-50 PFAM
low complexity region 218 231 N/A INTRINSIC
Pfam:DUF4211 273 432 1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169961
SMART Domains Protein: ENSMUSP00000126058
Gene: ENSMUSG00000079084

DomainStartEndE-ValueType
low complexity region 38 70 N/A INTRINSIC
Pfam:DUF4196 98 211 2.2e-55 PFAM
low complexity region 218 231 N/A INTRINSIC
low complexity region 250 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215735
Predicted Effect probably benign
Transcript: ENSMUST00000216578
Predicted Effect probably benign
Transcript: ENSMUST00000217444
AA Change: Q303K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.204 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,800,601 V362A probably benign Het
Ash1l T A 3: 89,066,415 C2594S probably damaging Het
Cog1 A G 11: 113,654,027 Y345C probably damaging Het
Fpgt T C 3: 155,091,360 probably benign Het
Glrb A T 3: 80,845,232 V408D possibly damaging Het
Gm7135 A G 1: 97,400,398 noncoding transcript Het
Il1rn T C 2: 24,349,545 L151P probably damaging Het
Itgav G T 2: 83,724,840 E36* probably null Het
Kidins220 G A 12: 25,056,846 E1433K possibly damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Klra3 A G 6: 130,334,302 C39R probably benign Het
Lce1i A G 3: 92,777,435 S145P unknown Het
Memo1 T C 17: 74,255,298 probably null Het
Mpp3 G A 11: 102,023,463 A102V probably damaging Het
Mug2 T A 6: 122,063,673 D727E probably benign Het
Ndufb8 T C 19: 44,552,691 I107V probably benign Het
Olfr186 A T 16: 59,027,613 M98K probably benign Het
Pnn C T 12: 59,072,170 T513I possibly damaging Het
Ric8a A G 7: 140,861,422 Y210C probably damaging Het
Ripor2 G A 13: 24,725,009 V1037M probably damaging Het
Rreb1 A T 13: 37,931,931 T1089S probably benign Het
Rrs1 C T 1: 9,546,215 S231L probably damaging Het
Rrs1 C T 1: 9,546,223 R234C possibly damaging Het
Sec23ip A G 7: 128,777,333 D838G probably benign Het
Setbp1 T C 18: 78,859,061 I464V probably benign Het
Slc25a51 C T 4: 45,399,768 V141M probably benign Het
Slc41a3 A T 6: 90,640,922 H310L probably benign Het
Smurf1 A G 5: 144,891,458 S363P probably benign Het
Tln1 C T 4: 43,543,509 R1269Q probably benign Het
Tmed3 A G 9: 89,704,898 S10P probably benign Het
Tomm70a T G 16: 57,140,622 Y313D probably damaging Het
Umodl1 A G 17: 30,988,065 E810G probably benign Het
Unc5c T C 3: 141,714,674 I52T probably damaging Het
Unc5d T A 8: 28,719,796 Y432F probably benign Het
Vmn2r97 A T 17: 18,948,075 probably benign Het
Zfp629 T C 7: 127,611,938 Y233C probably damaging Het
Zfp986 T C 4: 145,892,518 probably null Het
Other mutations in Ccdc82
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1276:Ccdc82 UTSW 9 13281413 missense probably benign 0.03
R1580:Ccdc82 UTSW 9 13252760 missense probably damaging 1.00
R1662:Ccdc82 UTSW 9 13262772 missense probably damaging 1.00
R3619:Ccdc82 UTSW 9 13252306 missense probably benign 0.05
R3858:Ccdc82 UTSW 9 13252079 start gained probably benign
R3963:Ccdc82 UTSW 9 13252386 missense possibly damaging 0.78
R4674:Ccdc82 UTSW 9 13252635 missense probably benign 0.45
R5591:Ccdc82 UTSW 9 13272503 critical splice donor site probably null
R6122:Ccdc82 UTSW 9 13266412 missense probably benign 0.01
R6175:Ccdc82 UTSW 9 13272479 missense probably damaging 1.00
R6434:Ccdc82 UTSW 9 13252034 intron probably benign
R6457:Ccdc82 UTSW 9 13272426 missense possibly damaging 0.73
R6825:Ccdc82 UTSW 9 13251976 intron probably benign
R7191:Ccdc82 UTSW 9 13252472 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGGACTCTTGTTCAGGCAC -3'
(R):5'- ATGTAAAAGAATGCCAGCCTCC -3'

Sequencing Primer
(F):5'- GCACTGGTGAGGAGGATG -3'
(R):5'- CCTGATAAAAATGCTTGTTTCCTGGG -3'
Posted On2015-06-20