Incidental Mutation 'R1580:Ccdc82'
ID171361
Institutional Source Beutler Lab
Gene Symbol Ccdc82
Ensembl Gene ENSMUSG00000079084
Gene Namecoiled-coil domain containing 82
Synonyms
MMRRC Submission 039617-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R1580 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location13246955-13292520 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 13252760 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 226 (R226C)
Ref Sequence ENSEMBL: ENSMUSP00000150947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000216578] [ENSMUST00000217444]
Predicted Effect probably damaging
Transcript: ENSMUST00000110583
AA Change: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: R226C

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 damaging
Transcript: ENSMUST00000217444
AA Change: R226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.21 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,265,965 V2044I possibly damaging Het
Adgrv1 A G 13: 81,466,160 probably null Het
Arhgef38 T C 3: 133,133,704 Q526R probably benign Het
Atp2c2 A G 8: 119,752,987 N752D probably benign Het
Atp6v0a1 T C 11: 101,029,204 I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 V551A possibly damaging Het
B3galnt1 A G 3: 69,575,707 S74P possibly damaging Het
Bcl2l13 A G 6: 120,865,714 I123V probably benign Het
Brms1l A T 12: 55,868,222 K305N probably damaging Het
Chst9 T G 18: 15,453,065 K147T probably benign Het
Clec16a A G 16: 10,595,898 R390G probably damaging Het
Clec5a G T 6: 40,585,219 H4N probably benign Het
Csmd1 T A 8: 15,925,299 Q2970L probably damaging Het
Cyp2a4 T C 7: 26,307,651 I61T possibly damaging Het
Cyp3a16 T A 5: 145,442,074 K379I possibly damaging Het
Cyp3a16 T C 5: 145,442,075 K379E probably damaging Het
Dok2 A G 14: 70,776,957 D195G probably benign Het
Emilin1 A G 5: 30,917,420 E335G probably damaging Het
Fam205c T C 4: 42,874,020 probably null Het
Gm7361 G T 5: 26,257,770 L3F probably damaging Het
Haus1 T C 18: 77,766,920 D50G probably damaging Het
Igf1r T C 7: 68,207,869 V1099A probably benign Het
Kif15 T C 9: 122,959,956 V71A probably benign Het
Klk10 C T 7: 43,782,862 A73V probably damaging Het
Lins1 C A 7: 66,714,491 D711E probably benign Het
Mbtps1 C T 8: 119,538,900 V303I possibly damaging Het
Mest G A 6: 30,745,823 probably benign Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr299 A G 7: 86,465,450 E13G probably benign Het
Olfr800 G T 10: 129,660,315 V170F probably benign Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Rtf2 A G 2: 172,445,365 D68G probably damaging Het
Sbspon C A 1: 15,892,468 C62F probably damaging Het
Spg7 T A 8: 123,090,238 probably benign Het
Trabd2b T C 4: 114,580,334 V236A possibly damaging Het
Vmn2r10 A T 5: 109,006,251 N62K possibly damaging Het
Vmn2r45 T G 7: 8,471,747 S761R possibly damaging Het
Zfp580 C T 7: 5,053,285 R215C probably damaging Het
Zfpm2 A G 15: 41,103,209 D898G possibly damaging Het
Other mutations in Ccdc82
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1276:Ccdc82 UTSW 9 13281413 missense probably benign 0.03
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
R4287:Ccdc82 UTSW 9 13253418 missense probably benign 0.13
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
Predicted Primers PCR Primer
(F):5'- CACACTGGGCAAATCCTAGAGGAAG -3'
(R):5'- CATCGTGCCTTTAAAACAGCCAGC -3'

Sequencing Primer
(F):5'- AAAAAGGCTGTCCTCTGTGATG -3'
(R):5'- GCCAGCATGGCTTTAAAATTAAATC -3'
Posted On2014-04-13