Incidental Mutation 'IGL02110:Ccdc170'
ID280113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Namecoiled-coil domain containing 170
SynonymsGm221, LOC237250
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock #IGL02110
Quality Score
Status
Chromosome10
Chromosomal Location4482502-4562231 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 4541885 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
Predicted Effect probably null
Transcript: ENSMUST00000019901
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767

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 null
Transcript: ENSMUST00000138112
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157064
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik A G 5: 24,548,084 probably benign Het
Apol7e A G 15: 77,714,348 probably null Het
Arhgef40 C T 14: 51,989,405 T302M probably damaging Het
Bap1 T C 14: 31,257,414 L458P probably damaging Het
Bbs12 A G 3: 37,319,187 E43G probably benign Het
Bod1l C T 5: 41,816,453 C2506Y probably damaging Het
Chpf2 A G 5: 24,591,712 E552G probably damaging Het
Comp T A 8: 70,373,639 I23N probably benign Het
Cxcl2 T C 5: 90,904,352 probably benign Het
Dctn5 T C 7: 122,135,151 F73L probably damaging Het
Ddx5 T C 11: 106,785,009 E285G probably damaging Het
Ddx60 T G 8: 62,017,247 probably null Het
Dhcr24 T A 4: 106,573,801 I229N probably damaging Het
Dnah7a G A 1: 53,411,580 T3897I possibly damaging Het
Dvl2 T A 11: 70,008,016 probably benign Het
Dytn A T 1: 63,647,473 V346E possibly damaging Het
Eepd1 T C 9: 25,603,402 probably benign Het
Fbln2 G T 6: 91,234,102 A343S probably benign Het
Flywch1 T C 17: 23,763,092 probably null Het
Gckr A T 5: 31,298,738 T81S possibly damaging Het
Gm6139 T A 5: 129,623,592 noncoding transcript Het
Gpcpd1 A T 2: 132,530,610 C657* probably null Het
Greb1l A G 18: 10,515,271 I89V probably damaging Het
Hdac4 G A 1: 91,984,405 P421S probably benign Het
Klhl1 A G 14: 96,136,603 L669P probably benign Het
Mios A G 6: 8,215,565 R254G probably damaging Het
Mmp19 A G 10: 128,794,858 N116D probably damaging Het
Muc5b T A 7: 141,847,716 C566* probably null Het
Nadsyn1 T C 7: 143,813,427 Y141C probably damaging Het
Nlrp4d T C 7: 10,382,564 noncoding transcript Het
Nob1 A T 8: 107,416,172 *160R probably null Het
Olfr1295 C T 2: 111,564,907 C179Y probably damaging Het
Olfr1366 T A 13: 21,537,942 Q21L possibly damaging Het
Olfr346 A G 2: 36,688,685 T228A probably benign Het
Olfr455 A G 6: 42,538,179 V281A possibly damaging Het
Olfr504 C A 7: 108,565,079 A239S probably damaging Het
Olfr571 C T 7: 102,909,195 V215I probably benign Het
Phc1 T C 6: 122,322,035 D658G possibly damaging Het
Pitx2 T G 3: 129,218,817 S299A probably damaging Het
Plekha7 C A 7: 116,154,628 probably null Het
Ptgfr A G 3: 151,835,460 V137A probably damaging Het
Ptprb T C 10: 116,331,203 probably benign Het
Rasl2-9 C T 7: 5,125,347 A195T probably benign Het
Ripor3 T A 2: 167,994,706 Q121L possibly damaging Het
Sgsh G T 11: 119,352,806 A30E probably damaging Het
Sis G T 3: 72,928,699 C852* probably null Het
Slc17a9 A G 2: 180,732,576 probably benign Het
Slco6b1 A T 1: 96,987,882 noncoding transcript Het
Smarca2 A G 19: 26,672,740 Y704C possibly damaging Het
Spata6 A T 4: 111,784,806 H291L possibly damaging Het
Stra8 T C 6: 34,930,354 probably benign Het
Taldo1 T C 7: 141,402,734 probably benign Het
Tmco6 T C 18: 36,735,166 probably benign Het
Tmpo A C 10: 91,162,865 S353R probably damaging Het
Tpr A T 1: 150,435,742 Q1757L probably damaging Het
Ubn1 T C 16: 5,081,890 probably benign Het
Vmn2r83 T C 10: 79,491,700 V714A possibly damaging Het
Zfp407 G T 18: 84,559,040 A1316D probably benign Het
Zzef1 T A 11: 72,913,112 I2560N 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
IGL01377:Ccdc170 APN 10 4560966 missense probably damaging 1.00
IGL01726:Ccdc170 APN 10 4549713 missense probably benign 0.04
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
Posted On2015-04-16