Incidental Mutation 'IGL01377:Ccdc170'
ID 78755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.327) question?
Stock # IGL01377
Quality Score
Status
Chromosome 10
Chromosomal Location 4482502-4562231 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4560966 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 675 (D675G)
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
AlphaFold D3YXL0
Predicted Effect probably damaging
Transcript: ENSMUST00000019901
AA Change: D669G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: D669G

DomainStartEndE-ValueType
coiled coil region 40 160 N/A INTRINSIC
coiled coil region 264 302 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
coiled coil region 379 415 N/A INTRINSIC
coiled coil region 475 649 N/A INTRINSIC
low complexity region 678 690 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138112
AA Change: D675G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: D675G

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
internal_repeat_1 80 93 6.25e-5 PROSPERO
internal_repeat_1 305 318 6.25e-5 PROSPERO
low complexity region 351 363 N/A INTRINSIC
coiled coil region 385 421 N/A INTRINSIC
coiled coil region 481 655 N/A INTRINSIC
low complexity region 684 696 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in Ccdc170
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ccdc170 APN 10 4546836 missense probably damaging 1.00
IGL01018:Ccdc170 APN 10 4512788 missense probably benign
IGL01018:Ccdc170 APN 10 4514155 missense probably benign 0.00
IGL01018:Ccdc170 APN 10 4514114 missense probably benign
IGL01114:Ccdc170 APN 10 4558550 missense probably benign 0.01
IGL01726:Ccdc170 APN 10 4549713 missense probably benign 0.04
IGL02110:Ccdc170 APN 10 4541885 splice site probably null
FR4304:Ccdc170 UTSW 10 4561021 small insertion probably benign
FR4548:Ccdc170 UTSW 10 4561026 small insertion probably benign
FR4737:Ccdc170 UTSW 10 4561023 small insertion probably benign
FR4737:Ccdc170 UTSW 10 4561029 small insertion probably benign
FR4976:Ccdc170 UTSW 10 4561008 small insertion probably benign
FR4976:Ccdc170 UTSW 10 4561023 small insertion probably benign
FR4976:Ccdc170 UTSW 10 4561029 small insertion probably benign
R0137:Ccdc170 UTSW 10 4546950 splice site probably benign
R0280:Ccdc170 UTSW 10 4558663 missense possibly damaging 0.62
R0480:Ccdc170 UTSW 10 4518939 missense probably benign 0.00
R1786:Ccdc170 UTSW 10 4519043 missense probably benign 0.02
R2383:Ccdc170 UTSW 10 4534208 missense probably benign 0.00
R3031:Ccdc170 UTSW 10 4518931 missense probably damaging 0.99
R3797:Ccdc170 UTSW 10 4560920 missense possibly damaging 0.60
R4494:Ccdc170 UTSW 10 4514128 missense probably damaging 1.00
R4916:Ccdc170 UTSW 10 4518971 missense probably damaging 0.96
R5152:Ccdc170 UTSW 10 4561107 missense probably damaging 1.00
R5170:Ccdc170 UTSW 10 4514200 missense probably damaging 0.99
R5354:Ccdc170 UTSW 10 4534188 missense probably benign 0.16
R5911:Ccdc170 UTSW 10 4558551 nonsense probably null
R5983:Ccdc170 UTSW 10 4520851 nonsense probably null
R6374:Ccdc170 UTSW 10 4549746 nonsense probably null
R6645:Ccdc170 UTSW 10 4560974 missense possibly damaging 0.95
R6818:Ccdc170 UTSW 10 4541782 missense probably damaging 1.00
R6888:Ccdc170 UTSW 10 4546854 missense possibly damaging 0.91
R7032:Ccdc170 UTSW 10 4482597 missense unknown
R7206:Ccdc170 UTSW 10 4514120 missense possibly damaging 0.66
R7393:Ccdc170 UTSW 10 4514314 critical splice donor site probably null
R7438:Ccdc170 UTSW 10 4558512 nonsense probably null
R7471:Ccdc170 UTSW 10 4520803 missense probably benign 0.00
R7514:Ccdc170 UTSW 10 4546839 missense probably benign 0.37
R7818:Ccdc170 UTSW 10 4549603 missense probably benign 0.05
R8942:Ccdc170 UTSW 10 4534044 missense probably benign 0.07
R9069:Ccdc170 UTSW 10 4561016 missense possibly damaging 0.46
R9355:Ccdc170 UTSW 10 4558695 missense probably benign 0.17
RF006:Ccdc170 UTSW 10 4561030 small insertion probably benign
RF009:Ccdc170 UTSW 10 4561030 small insertion probably benign
RF011:Ccdc170 UTSW 10 4561018 small insertion probably benign
RF017:Ccdc170 UTSW 10 4561024 small insertion probably benign
RF023:Ccdc170 UTSW 10 4561018 small insertion probably benign
RF024:Ccdc170 UTSW 10 4561024 small insertion probably benign
RF025:Ccdc170 UTSW 10 4561026 small insertion probably benign
RF027:Ccdc170 UTSW 10 4561026 small insertion probably benign
RF029:Ccdc170 UTSW 10 4561026 small insertion probably benign
RF050:Ccdc170 UTSW 10 4561008 small insertion probably benign
RF064:Ccdc170 UTSW 10 4561025 small insertion probably benign
Z1177:Ccdc170 UTSW 10 4509884 missense probably benign
Posted On 2013-11-05