Incidental Mutation 'IGL01018:Ccdc170'
ID53821
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? Possibly non essential (E-score: 0.308) question?
Stock #IGL01018
Quality Score
Status
Chromosome10
Chromosomal Location4482502-4562231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4514155 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 99 (A99S)
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112] [ENSMUST00000145465]
Predicted Effect probably benign
Transcript: ENSMUST00000019901
AA Change: A93S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: A93S

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: A99S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: A99S

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 probably benign
Transcript: ENSMUST00000145465
AA Change: A45S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767
AA Change: A45S

DomainStartEndE-ValueType
coiled coil region 6 96 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,682,910 E1063G probably damaging Het
5530400C23Rik G T 6: 133,294,497 R168I probably benign Het
5530400C23Rik A T 6: 133,294,498 R168S probably benign Het
9230019H11Rik A G 10: 3,120,231 noncoding transcript Het
9230019H11Rik A G 10: 3,120,209 noncoding transcript Het
9230019H11Rik G A 10: 3,125,031 noncoding transcript Het
9230019H11Rik C T 10: 3,125,193 noncoding transcript Het
Armt1 C T 10: 4,454,237 probably benign Het
Armt1 T A 10: 4,450,732 S160T probably benign Het
Glp2r C A 11: 67,709,644 V460F probably benign Het
Gm21411 T C 4: 146,892,577 Q80R probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 G T 5: 25,950,723 H208N probably benign Het
Gm21738 G A 14: 19,418,856 P24L probably benign Het
H2-M10.6 C T 17: 36,812,220 A15V probably benign Het
H60c A C 10: 3,260,343 F69V probably benign Het
H60c T C 10: 3,259,766 M174V probably benign Het
Ipcef1 G A 10: 6,890,551 A382V probably benign Het
Ipcef1 C T 10: 6,919,968 R144Q probably damaging Het
Mapk8ip3 T G 17: 24,899,719 probably benign Het
Mthfd1l T C 10: 3,978,708 V100A probably benign Het
Mthfd1l T C 10: 4,007,800 V279A probably benign Het
Mthfd1l T C 10: 4,032,345 probably benign Het
Mtrf1l A G 10: 5,814,180 probably benign Het
Myo18b T C 5: 112,809,747 E1450G probably damaging Het
Obscn C T 11: 59,128,069 V973M probably damaging Het
Olfr414 G A 1: 174,431,342 V305I probably benign Het
Oprm1 T C 10: 7,037,170 probably benign Het
Pou5f2 A G 13: 78,025,938 probably benign Het
Ralgapa2 G A 2: 146,410,193 H891Y probably benign Het
Ralgapa2 T G 2: 146,410,192 H806P probably benign Het
Rmnd1 A G 10: 4,427,392 W96R probably benign Het
Rmnd1 A T 10: 4,427,290 S130T probably benign Het
Trappc12 A C 12: 28,691,854 probably benign Het
Vip A G 10: 5,642,480 D40G probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r125 T C 4: 156,350,612 probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 A G 4: 156,350,845 N173D probably damaging Het
Vmn2r40 G A 7: 8,908,176 S706F probably damaging Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 T C 4: 156,335,590 noncoding transcript Het
Vmn2r-ps159 G A 4: 156,334,605 noncoding transcript Het
Zfp14 T A 7: 30,038,101 R486S 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 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
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
Posted On2013-06-28