Incidental Mutation 'IGL01726:Ccdc170'
ID 105263
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
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # IGL01726
Quality Score
Status
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4499713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 545 (L545M)
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
AlphaFold D3YXL0
Predicted Effect probably benign
Transcript: ENSMUST00000019901
AA Change: L539M

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: L539M

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 benign
Transcript: ENSMUST00000138112
AA Change: L545M

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: L545M

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,638,147 (GRCm39) probably null Het
Arpc2 A G 1: 74,287,338 (GRCm39) T53A probably benign Het
Ccm2l T C 2: 152,922,821 (GRCm39) probably benign Het
Celsr1 T C 15: 85,810,391 (GRCm39) N2166D probably benign Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Clcnka C T 4: 141,120,051 (GRCm39) probably null Het
Clip2 A T 5: 134,551,518 (GRCm39) N201K probably damaging Het
Cyp1a2 G A 9: 57,589,485 (GRCm39) L110F possibly damaging Het
Dhtkd1 T C 2: 5,947,467 (GRCm39) T6A unknown Het
Enthd1 A C 15: 80,336,652 (GRCm39) L594R probably damaging Het
Espnl A G 1: 91,272,626 (GRCm39) D618G probably benign Het
Gm6096 A T 7: 33,950,904 (GRCm39) I148F probably damaging Het
Hsf5 C T 11: 87,526,951 (GRCm39) T541I probably benign Het
Il18r1 A G 1: 40,537,563 (GRCm39) S443G possibly damaging Het
Il1a T C 2: 129,146,640 (GRCm39) D151G possibly damaging Het
Ints1 A G 5: 139,754,166 (GRCm39) probably benign Het
Kcnh1 A C 1: 192,188,164 (GRCm39) D875A possibly damaging Het
Naip6 T A 13: 100,439,760 (GRCm39) I336F probably benign Het
Napepld A G 5: 21,880,657 (GRCm39) F246S possibly damaging Het
Nova1 C T 12: 46,760,280 (GRCm39) probably null Het
Nsa2 C A 13: 97,268,525 (GRCm39) A181S probably damaging Het
Ntn5 C A 7: 45,343,671 (GRCm39) R337S probably damaging Het
Nynrin T C 14: 56,101,611 (GRCm39) S427P probably benign Het
Or52e5 A G 7: 104,718,836 (GRCm39) E54G probably damaging Het
Pcgf1 T A 6: 83,055,867 (GRCm39) probably null Het
Pfn4 T A 12: 4,824,446 (GRCm39) L58I probably benign Het
Plekha1 C A 7: 130,499,059 (GRCm39) P116Q probably damaging Het
Pou5f2 T C 13: 78,173,300 (GRCm39) S81P possibly damaging Het
Prag1 A G 8: 36,570,146 (GRCm39) D243G probably damaging Het
Rbm26 G A 14: 105,389,943 (GRCm39) P227L probably damaging Het
Rgl1 A T 1: 152,394,904 (GRCm39) N756K probably damaging Het
Rhou A T 8: 124,380,880 (GRCm39) T66S possibly damaging Het
Rspo3 A T 10: 29,380,704 (GRCm39) D103E probably benign Het
Rundc3b T C 5: 8,570,902 (GRCm39) K306E probably benign Het
Slc25a32 A G 15: 38,965,466 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Tars3 A G 7: 65,332,566 (GRCm39) T556A possibly damaging Het
Tmem266 A G 9: 55,342,486 (GRCm39) K324E probably benign Het
Tnrc6c T C 11: 117,640,161 (GRCm39) probably benign Het
Trappc9 A T 15: 72,817,971 (GRCm39) S452T probably damaging Het
Tspear T A 10: 77,717,121 (GRCm39) probably benign Het
Ttll5 T G 12: 85,965,708 (GRCm39) I571S probably benign Het
Ttn T C 2: 76,797,433 (GRCm39) T544A probably benign Het
Ubn1 T C 16: 4,891,334 (GRCm39) probably null Het
Ubr2 C A 17: 47,303,907 (GRCm39) probably benign Het
Usp21 A T 1: 171,111,574 (GRCm39) W360R probably damaging Het
Vmn2r62 A T 7: 42,414,526 (GRCm39) L639H probably damaging Het
Zc3h7b T A 15: 81,656,000 (GRCm39) I116N possibly damaging Het
Zfp618 C T 4: 63,050,872 (GRCm39) T551I probably damaging Het
Zfp804b T C 5: 7,230,707 (GRCm39) probably benign Het
Zkscan8 T C 13: 21,704,973 (GRCm39) H322R probably benign Het
Zwint T G 10: 72,493,019 (GRCm39) probably null Het
Other mutations in Ccdc170
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ccdc170 APN 10 4,496,836 (GRCm39) missense probably damaging 1.00
IGL01018:Ccdc170 APN 10 4,464,114 (GRCm39) missense probably benign
IGL01018:Ccdc170 APN 10 4,462,788 (GRCm39) missense probably benign
IGL01018:Ccdc170 APN 10 4,464,155 (GRCm39) missense probably benign 0.00
IGL01114:Ccdc170 APN 10 4,508,550 (GRCm39) missense probably benign 0.01
IGL01377:Ccdc170 APN 10 4,510,966 (GRCm39) missense probably damaging 1.00
IGL02110:Ccdc170 APN 10 4,491,885 (GRCm39) splice site probably null
FR4304:Ccdc170 UTSW 10 4,511,021 (GRCm39) small insertion probably benign
FR4548:Ccdc170 UTSW 10 4,511,026 (GRCm39) small insertion probably benign
FR4737:Ccdc170 UTSW 10 4,511,029 (GRCm39) small insertion probably benign
FR4737:Ccdc170 UTSW 10 4,511,023 (GRCm39) small insertion probably benign
FR4976:Ccdc170 UTSW 10 4,511,029 (GRCm39) small insertion probably benign
FR4976:Ccdc170 UTSW 10 4,511,008 (GRCm39) small insertion probably benign
FR4976:Ccdc170 UTSW 10 4,511,023 (GRCm39) small insertion probably benign
R0137:Ccdc170 UTSW 10 4,496,950 (GRCm39) splice site probably benign
R0280:Ccdc170 UTSW 10 4,508,663 (GRCm39) missense possibly damaging 0.62
R0480:Ccdc170 UTSW 10 4,468,939 (GRCm39) missense probably benign 0.00
R1786:Ccdc170 UTSW 10 4,469,043 (GRCm39) missense probably benign 0.02
R2383:Ccdc170 UTSW 10 4,484,208 (GRCm39) missense probably benign 0.00
R3031:Ccdc170 UTSW 10 4,468,931 (GRCm39) missense probably damaging 0.99
R3797:Ccdc170 UTSW 10 4,510,920 (GRCm39) missense possibly damaging 0.60
R4494:Ccdc170 UTSW 10 4,464,128 (GRCm39) missense probably damaging 1.00
R4916:Ccdc170 UTSW 10 4,468,971 (GRCm39) missense probably damaging 0.96
R5152:Ccdc170 UTSW 10 4,511,107 (GRCm39) missense probably damaging 1.00
R5170:Ccdc170 UTSW 10 4,464,200 (GRCm39) missense probably damaging 0.99
R5354:Ccdc170 UTSW 10 4,484,188 (GRCm39) missense probably benign 0.16
R5911:Ccdc170 UTSW 10 4,508,551 (GRCm39) nonsense probably null
R5983:Ccdc170 UTSW 10 4,470,851 (GRCm39) nonsense probably null
R6374:Ccdc170 UTSW 10 4,499,746 (GRCm39) nonsense probably null
R6645:Ccdc170 UTSW 10 4,510,974 (GRCm39) missense possibly damaging 0.95
R6818:Ccdc170 UTSW 10 4,491,782 (GRCm39) missense probably damaging 1.00
R6888:Ccdc170 UTSW 10 4,496,854 (GRCm39) missense possibly damaging 0.91
R7032:Ccdc170 UTSW 10 4,432,597 (GRCm39) missense unknown
R7206:Ccdc170 UTSW 10 4,464,120 (GRCm39) missense possibly damaging 0.66
R7393:Ccdc170 UTSW 10 4,464,314 (GRCm39) critical splice donor site probably null
R7438:Ccdc170 UTSW 10 4,508,512 (GRCm39) nonsense probably null
R7471:Ccdc170 UTSW 10 4,470,803 (GRCm39) missense probably benign 0.00
R7514:Ccdc170 UTSW 10 4,496,839 (GRCm39) missense probably benign 0.37
R7818:Ccdc170 UTSW 10 4,499,603 (GRCm39) missense probably benign 0.05
R8942:Ccdc170 UTSW 10 4,484,044 (GRCm39) missense probably benign 0.07
R9069:Ccdc170 UTSW 10 4,511,016 (GRCm39) missense possibly damaging 0.46
R9355:Ccdc170 UTSW 10 4,508,695 (GRCm39) missense probably benign 0.17
R9790:Ccdc170 UTSW 10 4,483,957 (GRCm39) critical splice acceptor site probably null
R9791:Ccdc170 UTSW 10 4,483,957 (GRCm39) critical splice acceptor site probably null
RF006:Ccdc170 UTSW 10 4,511,030 (GRCm39) small insertion probably benign
RF009:Ccdc170 UTSW 10 4,511,030 (GRCm39) small insertion probably benign
RF011:Ccdc170 UTSW 10 4,511,018 (GRCm39) small insertion probably benign
RF017:Ccdc170 UTSW 10 4,511,024 (GRCm39) small insertion probably benign
RF023:Ccdc170 UTSW 10 4,511,018 (GRCm39) small insertion probably benign
RF024:Ccdc170 UTSW 10 4,511,024 (GRCm39) small insertion probably benign
RF025:Ccdc170 UTSW 10 4,511,026 (GRCm39) small insertion probably benign
RF027:Ccdc170 UTSW 10 4,511,026 (GRCm39) small insertion probably benign
RF029:Ccdc170 UTSW 10 4,511,026 (GRCm39) small insertion probably benign
RF050:Ccdc170 UTSW 10 4,511,008 (GRCm39) small insertion probably benign
RF064:Ccdc170 UTSW 10 4,511,025 (GRCm39) small insertion probably benign
Z1177:Ccdc170 UTSW 10 4,459,884 (GRCm39) missense probably benign
Posted On 2014-01-21