Incidental Mutation 'IGL02029:Ccdc61'
ID184296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc61
Ensembl Gene ENSMUSG00000074358
Gene Namecoiled-coil domain containing 61
SynonymsC530028I08Rik, LOC232933
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.295) question?
Stock #IGL02029
Quality Score
Status
Chromosome7
Chromosomal Location18890883-18910415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18903498 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 68 (C68Y)
Ref Sequence ENSEMBL: ENSMUSP00000096377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098780] [ENSMUST00000135467] [ENSMUST00000139077] [ENSMUST00000150065]
Predicted Effect probably damaging
Transcript: ENSMUST00000098780
AA Change: C68Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096377
Gene: ENSMUSG00000074358
AA Change: C68Y

DomainStartEndE-ValueType
coiled coil region 173 206 N/A INTRINSIC
low complexity region 217 242 N/A INTRINSIC
coiled coil region 243 280 N/A INTRINSIC
low complexity region 290 332 N/A INTRINSIC
low complexity region 350 383 N/A INTRINSIC
low complexity region 400 447 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135467
AA Change: C68Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000139077
AA Change: C68Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000150065
AA Change: C68Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Ccdc61
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Ccdc61 APN 7 18892558 missense probably benign
IGL02550:Ccdc61 APN 7 18893302 missense probably benign 0.03
I0000:Ccdc61 UTSW 7 18903549 missense probably damaging 1.00
R0055:Ccdc61 UTSW 7 18892536 missense probably damaging 1.00
R0055:Ccdc61 UTSW 7 18892536 missense probably damaging 1.00
R0392:Ccdc61 UTSW 7 18891102 missense probably benign 0.27
R0578:Ccdc61 UTSW 7 18903475 missense probably benign 0.02
R1740:Ccdc61 UTSW 7 18903937 splice site probably benign
R2230:Ccdc61 UTSW 7 18891107 missense probably damaging 0.98
R5964:Ccdc61 UTSW 7 18900940 missense probably damaging 1.00
R6345:Ccdc61 UTSW 7 18909989 intron probably null
R6893:Ccdc61 UTSW 7 18892563 missense possibly damaging 0.94
Posted On2014-05-07