Incidental Mutation 'R6888:Ccdc170'
ID 537060
Institutional Source Beutler Lab
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
MMRRC Submission 044982-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R6888 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4496854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 458 (V458A)
Ref Sequence ENSEMBL: ENSMUSP00000019901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
AlphaFold D3YXL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000019901
AA Change: V458A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: V458A

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 possibly damaging
Transcript: ENSMUST00000138112
AA Change: V464A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: V464A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 T C 11: 120,238,141 (GRCm39) Y190C probably damaging Het
Adgrv1 A G 13: 81,656,788 (GRCm39) I2902T probably damaging Het
AI429214 G A 8: 37,460,987 (GRCm39) G45D possibly damaging Het
Ambra1 A G 2: 91,599,372 (GRCm39) D164G probably damaging Het
Ap3b1 A T 13: 94,545,299 (GRCm39) Q184L probably benign Het
Arhgef17 T C 7: 100,580,027 (GRCm39) D307G possibly damaging Het
AY761185 A T 8: 21,434,571 (GRCm39) Y52* probably null Het
Bfsp1 A G 2: 143,668,639 (GRCm39) S647P probably benign Het
C130073F10Rik A G 4: 101,747,453 (GRCm39) V192A probably benign Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Ccdc187 G A 2: 26,179,746 (GRCm39) R238W probably damaging Het
Cdh1 A G 8: 107,384,946 (GRCm39) S380G probably benign Het
Cdk5rap3 T C 11: 96,807,018 (GRCm39) H4R probably benign Het
Cftr G A 6: 18,313,729 (GRCm39) probably null Het
Cstpp1 A G 2: 91,252,239 (GRCm39) Y41H probably damaging Het
Dnajc16 A G 4: 141,504,303 (GRCm39) V219A probably benign Het
Drd3 A T 16: 43,637,502 (GRCm39) I266F probably benign Het
Dut A G 2: 125,099,044 (GRCm39) D177G probably benign Het
Esr1 A G 10: 4,807,076 (GRCm39) I331V probably benign Het
Gm11110 A G 17: 57,409,143 (GRCm39) probably benign Het
Grm7 G T 6: 111,335,314 (GRCm39) G575V possibly damaging Het
Heatr3 A G 8: 88,897,512 (GRCm39) Y531C probably damaging Het
Igfn1 A G 1: 135,910,218 (GRCm39) V122A probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Kntc1 T C 5: 123,949,373 (GRCm39) Y1915H probably damaging Het
Lamc1 A T 1: 153,138,238 (GRCm39) D205E probably damaging Het
Limch1 C T 5: 67,179,269 (GRCm39) T713I probably benign Het
Lrp1b A G 2: 41,361,138 (GRCm39) I555T probably benign Het
Lrp2 A T 2: 69,354,485 (GRCm39) F448I probably damaging Het
Marchf6 T C 15: 31,459,379 (GRCm39) K896E probably benign Het
Mroh4 T C 15: 74,485,098 (GRCm39) Y469C possibly damaging Het
Niban3 G T 8: 72,056,383 (GRCm39) R361L probably benign Het
Nos3 T C 5: 24,588,333 (GRCm39) V1060A possibly damaging Het
Nr1h4 A G 10: 89,292,404 (GRCm39) I406T probably damaging Het
Odf2l T C 3: 144,854,379 (GRCm39) probably null Het
Or2y15 A T 11: 49,351,087 (GRCm39) T194S probably damaging Het
Or5d14 A G 2: 87,880,608 (GRCm39) M120T probably damaging Het
Pals2 T G 6: 50,157,257 (GRCm39) probably null Het
Pbx2 A G 17: 34,813,081 (GRCm39) Y119C possibly damaging Het
Pdcd6ip C A 9: 113,500,905 (GRCm39) A526S probably benign Het
Prx G A 7: 27,219,059 (GRCm39) D1187N possibly damaging Het
Ptpro G A 6: 137,357,198 (GRCm39) V230I probably benign Het
Rtn3 C T 19: 7,434,614 (GRCm39) M440I probably benign Het
Sar1b T C 11: 51,679,019 (GRCm39) I96T probably damaging Het
Sds T C 5: 120,618,965 (GRCm39) probably null Het
Secisbp2 A G 13: 51,833,977 (GRCm39) T706A probably benign Het
Sorcs3 A T 19: 48,682,263 (GRCm39) M433L possibly damaging Het
Sppl2a A G 2: 126,746,912 (GRCm39) V472A probably damaging Het
Tbc1d9 A G 8: 83,998,217 (GRCm39) E1258G possibly damaging Het
Tbxas1 C A 6: 38,929,008 (GRCm39) probably benign Het
Tg T C 15: 66,568,095 (GRCm39) I1333T probably damaging Het
Tmem108 C T 9: 103,376,915 (GRCm39) G178D probably damaging Het
Tmem174 A G 13: 98,773,569 (GRCm39) L87P probably damaging Het
Tmppe T A 9: 114,233,769 (GRCm39) S23T probably damaging Het
Ttn G A 2: 76,591,447 (GRCm39) T21074I probably benign Het
Tub A G 7: 108,628,505 (GRCm39) M338V probably null Het
Vmn1r160 A T 7: 22,571,531 (GRCm39) R295* probably null Het
Vps52 T C 17: 34,182,180 (GRCm39) V518A probably benign Het
Wdr59 A G 8: 112,177,675 (GRCm39) V909A probably benign Het
Wnk1 T C 6: 119,925,742 (GRCm39) T1241A probably benign Het
Zfp882 G A 8: 72,668,130 (GRCm39) C319Y probably benign Het
Znfx1 A T 2: 166,880,860 (GRCm39) I308N possibly damaging 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
IGL01726:Ccdc170 APN 10 4,499,713 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- CAGCTCTGAGATGGCTGAAAG -3'
(R):5'- CTGCTCTCAGATCTTCAGAACTG -3'

Sequencing Primer
(F):5'- CTCTGAGATGGCTGAAAGATAAAG -3'
(R):5'- AACATGCTACTGATCATGGTGG -3'
Posted On 2018-10-18