Incidental Mutation 'IGL02086:Ccdc77'
ID 285467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc77
Ensembl Gene ENSMUSG00000030177
Gene Name coiled-coil domain containing 77
Synonyms 2700091N06Rik, 2400002C23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 6
Chromosomal Location 120301283-120341330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120316119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 186 (C186F)
Ref Sequence ENSEMBL: ENSMUSP00000032283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032283] [ENSMUST00000112703] [ENSMUST00000127146] [ENSMUST00000136829] [ENSMUST00000144131] [ENSMUST00000163827]
AlphaFold Q9CZH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032283
AA Change: C186F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032283
Gene: ENSMUSG00000030177
AA Change: C186F

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 possibly damaging
Transcript: ENSMUST00000112703
AA Change: C168F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108323
Gene: ENSMUSG00000030177
AA Change: C168F

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 noncoding transcript
Transcript: ENSMUST00000123114
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
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Ccdc77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ccdc77 APN 6 120,306,045 (GRCm39) unclassified probably benign
IGL01323:Ccdc77 APN 6 120,311,757 (GRCm39) missense probably benign 0.25
IGL02388:Ccdc77 APN 6 120,308,858 (GRCm39) missense probably benign
R0576:Ccdc77 UTSW 6 120,308,809 (GRCm39) missense probably benign 0.00
R1485:Ccdc77 UTSW 6 120,315,101 (GRCm39) nonsense probably null
R2422:Ccdc77 UTSW 6 120,316,120 (GRCm39) missense probably benign 0.01
R2497:Ccdc77 UTSW 6 120,302,433 (GRCm39) missense possibly damaging 0.62
R4906:Ccdc77 UTSW 6 120,311,796 (GRCm39) missense probably damaging 0.98
R5104:Ccdc77 UTSW 6 120,325,346 (GRCm39) splice site probably null
R6467:Ccdc77 UTSW 6 120,327,242 (GRCm39) missense probably damaging 0.99
R7165:Ccdc77 UTSW 6 120,327,193 (GRCm39) missense probably damaging 1.00
R7783:Ccdc77 UTSW 6 120,327,334 (GRCm39) missense probably damaging 0.97
R8296:Ccdc77 UTSW 6 120,308,870 (GRCm39) missense possibly damaging 0.53
R8695:Ccdc77 UTSW 6 120,318,962 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16