Incidental Mutation 'IGL02388:Ccdc77'
ID291626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc77
Ensembl Gene ENSMUSG00000030177
Gene Namecoiled-coil domain containing 77
Synonyms2700091N06Rik, 2400002C23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02388
Quality Score
Status
Chromosome6
Chromosomal Location120324323-120364374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120331897 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 301 (A301V)
Ref Sequence ENSEMBL: ENSMUSP00000108323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032283] [ENSMUST00000112703] [ENSMUST00000127146] [ENSMUST00000136829] [ENSMUST00000144131] [ENSMUST00000163827]
Predicted Effect probably benign
Transcript: ENSMUST00000032283
AA Change: A319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032283
Gene: ENSMUSG00000030177
AA Change: A319V

DomainStartEndE-ValueType
coiled coil region 57 120 N/A INTRINSIC
low complexity region 221 235 N/A INTRINSIC
coiled coil region 346 380 N/A INTRINSIC
coiled coil region 414 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112703
AA Change: A301V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108323
Gene: ENSMUSG00000030177
AA Change: A301V

DomainStartEndE-ValueType
coiled coil region 39 102 N/A INTRINSIC
low complexity region 203 217 N/A INTRINSIC
internal_repeat_1 258 283 9.62e-5 PROSPERO
internal_repeat_1 321 348 9.62e-5 PROSPERO
low complexity region 352 369 N/A INTRINSIC
coiled coil region 396 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127146
SMART Domains Protein: ENSMUSP00000120896
Gene: ENSMUSG00000030177

DomainStartEndE-ValueType
coiled coil region 39 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136829
SMART Domains Protein: ENSMUSP00000126554
Gene: ENSMUSG00000030177

DomainStartEndE-ValueType
coiled coil region 57 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144131
SMART Domains Protein: ENSMUSP00000127096
Gene: ENSMUSG00000030177

DomainStartEndE-ValueType
coiled coil region 39 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163827
SMART Domains Protein: ENSMUSP00000131970
Gene: ENSMUSG00000030177

DomainStartEndE-ValueType
coiled coil region 39 102 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fam114a1 A T 5: 65,008,980 probably benign Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Hpse2 A T 19: 43,294,253 V187D probably damaging Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kcnj11 A G 7: 46,099,789 S37P probably benign Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1251 T C 2: 89,666,972 S305G probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Pitpnb T C 5: 111,330,833 F7S possibly damaging Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Ccdc77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ccdc77 APN 6 120329084 unclassified probably benign
IGL01323:Ccdc77 APN 6 120334796 missense probably benign 0.25
IGL02086:Ccdc77 APN 6 120339158 missense possibly damaging 0.89
R0576:Ccdc77 UTSW 6 120331848 missense probably benign 0.00
R1485:Ccdc77 UTSW 6 120338140 nonsense probably null
R2422:Ccdc77 UTSW 6 120339159 missense probably benign 0.01
R2497:Ccdc77 UTSW 6 120325472 missense possibly damaging 0.62
R4906:Ccdc77 UTSW 6 120334835 missense probably damaging 0.98
R5104:Ccdc77 UTSW 6 120348385 splice site probably null
R6467:Ccdc77 UTSW 6 120350281 missense probably damaging 0.99
R7165:Ccdc77 UTSW 6 120350232 missense probably damaging 1.00
R7783:Ccdc77 UTSW 6 120350373 missense probably damaging 0.97
R8296:Ccdc77 UTSW 6 120331909 missense possibly damaging 0.53
Posted On2015-04-16