Incidental Mutation 'R6374:Ccdc170'
ID 513703
Institutional Source Beutler Lab
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
MMRRC Submission 044524-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R6374 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 4499746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 556 (Q556*)
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
AlphaFold D3YXL0
Predicted Effect probably null
Transcript: ENSMUST00000019901
AA Change: Q550*
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: Q550*

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
AA Change: Q556*
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: Q556*

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 99% (75/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,800 (GRCm39) S293A possibly damaging Het
5430401F13Rik A T 6: 131,529,892 (GRCm39) Q162L unknown Het
Abca8a A T 11: 109,974,216 (GRCm39) Y239* probably null Het
Aox3 T C 1: 58,211,320 (GRCm39) I959T probably benign Het
Atad2b T C 12: 5,068,002 (GRCm39) V1000A probably damaging Het
Atic C T 1: 71,604,100 (GRCm39) T221M probably damaging Het
Atp1a2 C T 1: 172,116,942 (GRCm39) R225H probably damaging Het
BC024139 A G 15: 76,004,657 (GRCm39) probably null Het
Bpi A T 2: 158,113,974 (GRCm39) T291S probably damaging Het
Cd3e G A 9: 44,920,661 (GRCm39) L12F probably benign Het
Cdc42ep1 A T 15: 78,731,649 (GRCm39) R31S probably damaging Het
Cyp21a1 G T 17: 35,023,110 (GRCm39) probably null Het
Dnase1l3 A G 14: 7,974,115 (GRCm38) M192T probably damaging Het
Dnmt1 A T 9: 20,835,341 (GRCm39) H330Q possibly damaging Het
Enah T C 1: 181,751,145 (GRCm39) E232G unknown Het
Etnppl C T 3: 130,414,342 (GRCm39) T73I probably damaging Het
Fam83b T A 9: 76,400,189 (GRCm39) I305F probably benign Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Gm19965 T A 1: 116,750,021 (GRCm39) N567K probably benign Het
Golga1 T C 2: 38,924,080 (GRCm39) Q435R probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hao1 T G 2: 134,365,024 (GRCm39) D201A probably benign Het
Heg1 T C 16: 33,547,499 (GRCm39) L786P possibly damaging Het
Hnrnpll A T 17: 80,357,303 (GRCm39) C238S possibly damaging Het
Hrg A G 16: 22,779,742 (GRCm39) Y340C probably damaging Het
Kyat3 A T 3: 142,443,998 (GRCm39) I411F probably damaging Het
Myo1a T C 10: 127,543,549 (GRCm39) Y202H probably damaging Het
Nags T C 11: 102,037,337 (GRCm39) C143R possibly damaging Het
Ncoa6 T C 2: 155,263,076 (GRCm39) N453D probably damaging Het
Nup35 G T 2: 80,488,730 (GRCm39) M322I probably benign Het
Oprl1 T C 2: 181,357,721 (GRCm39) V69A probably damaging Het
Or51v14 A G 7: 103,261,128 (GRCm39) L144P probably benign Het
Pappa2 T A 1: 158,784,215 (GRCm39) Y265F probably damaging Het
Pcsk6 C T 7: 65,629,903 (GRCm39) P343L possibly damaging Het
Peak1 C A 9: 56,164,950 (GRCm39) D993Y probably damaging Het
Polr2a T C 11: 69,627,758 (GRCm39) Y1383C probably damaging Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Prom1 C T 5: 44,213,325 (GRCm39) C127Y probably damaging Het
Ptpn6 A T 6: 124,709,532 (GRCm39) probably null Het
Reln T C 5: 22,285,712 (GRCm39) E419G probably benign Het
Rnf32 C T 5: 29,430,266 (GRCm39) Q362* probably null Het
Sbspon T C 1: 15,953,887 (GRCm39) D131G probably benign Het
Scyl3 T C 1: 163,776,783 (GRCm39) S392P probably benign Het
Shtn1 T A 19: 59,026,728 (GRCm39) D121V possibly damaging Het
Sin3a A G 9: 57,024,765 (GRCm39) T1042A probably benign Het
Sipa1l2 A T 8: 126,171,369 (GRCm39) V1371D probably damaging Het
Slc20a2 T C 8: 23,055,668 (GRCm39) V584A possibly damaging Het
Smc6 T A 12: 11,355,874 (GRCm39) probably null Het
Spata31h1 T A 10: 82,124,731 (GRCm39) probably benign Het
Specc1 C T 11: 62,047,418 (GRCm39) T849I possibly damaging Het
Spta1 T A 1: 174,041,734 (GRCm39) L1368H probably damaging Het
Sqle A G 15: 59,187,959 (GRCm39) E89G possibly damaging Het
Strbp A G 2: 37,493,020 (GRCm39) V422A probably damaging Het
Sult6b1 G T 17: 79,214,360 (GRCm39) T21K probably benign Het
Tex15 A G 8: 34,065,940 (GRCm39) E1790G probably damaging Het
Tmem88b T A 4: 155,870,221 (GRCm39) probably benign Het
Traf3ip3 T C 1: 192,864,318 (GRCm39) D355G possibly damaging Het
Trim24 T A 6: 37,930,484 (GRCm39) V576E probably benign Het
Trim30c C T 7: 104,039,609 (GRCm39) G62D probably benign Het
Trim66 T G 7: 109,085,269 (GRCm39) K100N probably benign Het
Tsnaxip1 A T 8: 106,568,172 (GRCm39) T313S possibly damaging Het
Ugt2b37 A T 5: 87,390,279 (GRCm39) I389N probably damaging Het
Unc13a C T 8: 72,094,097 (GRCm39) V1335M possibly damaging Het
Urah A G 7: 140,415,124 (GRCm39) T5A probably benign Het
Usp34 T C 11: 23,388,914 (GRCm39) Y2185H probably damaging Het
Usp44 T C 10: 93,692,172 (GRCm39) S643P probably benign Het
Vars2 A G 17: 35,970,937 (GRCm39) V631A probably damaging Het
Vmn2r11 G A 5: 109,201,679 (GRCm39) T275I possibly damaging Het
Vmn2r54 C A 7: 12,349,420 (GRCm39) V721F probably damaging Het
Vmn2r79 T C 7: 86,651,498 (GRCm39) I299T probably benign Het
Vps13d T C 4: 144,849,251 (GRCm39) T2387A probably damaging Het
Washc5 A T 15: 59,209,044 (GRCm39) L610Q probably benign Het
Zbtb21 T C 16: 97,751,568 (GRCm39) E905G probably damaging Het
Zfhx4 A G 3: 5,309,095 (GRCm39) T774A probably damaging Het
Zfp534 T C 4: 147,759,299 (GRCm39) I457V probably benign Het
Zfp964 T C 8: 70,111,994 (GRCm39) Y29H possibly damaging Het
Znrf4 A G 17: 56,818,702 (GRCm39) F202L probably 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
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
Predicted Primers PCR Primer
(F):5'- TGTATCAAACCAGCTAAAGACTCAG -3'
(R):5'- TCCTAAACACATTCCTGTCTAACAG -3'

Sequencing Primer
(F):5'- CCAGCTAAAGACTCAGAAAGAAAG -3'
(R):5'- TCTAACCGAGAGCGACTTTG -3'
Posted On 2018-04-27