Incidental Mutation 'IGL01323:Ccdc77'
ID74118
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 #IGL01323
Quality Score
Status
Chromosome6
Chromosomal Location120324323-120364374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120334796 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 247 (Q247R)
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: Q265R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032283
Gene: ENSMUSG00000030177
AA Change: Q265R

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: Q247R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108323
Gene: ENSMUSG00000030177
AA Change: Q247R

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
AA Change: Q195R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000131970
Gene: ENSMUSG00000030177
AA Change: Q195R

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Ighv8-6 T C 12: 115,165,857 D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt34 A G 11: 100,038,780 S267P possibly damaging Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Morc2b A G 17: 33,137,319 V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Tnfrsf22 G A 7: 143,643,374 P76L probably damaging Het
Triml1 T C 8: 43,138,563 probably null Het
Upp1 A G 11: 9,136,100 *312W probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Ccdc77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ccdc77 APN 6 120329084 unclassified probably benign
IGL02086:Ccdc77 APN 6 120339158 missense possibly damaging 0.89
IGL02388:Ccdc77 APN 6 120331897 missense probably benign
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 On2013-10-07