Incidental Mutation 'RF023:Ccdc170'
ID 603997
Institutional Source Beutler Lab
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 # RF023 (G1)
Quality Score 211.468
Status Not validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) CCA to CCAACA at 4511018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112]
AlphaFold D3YXL0
Predicted Effect probably benign
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 benign
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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 96% (24/25)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,818 (GRCm39) probably benign Het
5430401F13Rik AAAAACAGAAAGGAAAAGGTGGCCAG AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,841 (GRCm39) probably benign Het
A030005L19Rik TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG TGGCTGTGGCTGTGG 1: 82,891,117 (GRCm39) probably benign Het
Amot GCAACAGCAAC GC X: 144,233,999 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arhgef5 T A 6: 43,256,407 (GRCm39) S1172T probably damaging Het
Bltp1 T TTATTATTATTATTAG 3: 37,104,909 (GRCm39) probably benign Het
Cacna2d4 G A 6: 119,245,191 (GRCm39) V300I probably benign Het
Calhm1 GTGGC GTGGCTGTGGCTTTGGC 19: 47,129,712 (GRCm39) probably benign Het
Camk2b T C 11: 5,922,301 (GRCm39) T516A probably damaging Het
Cdhr3 G T 12: 33,110,348 (GRCm39) S312Y probably damaging Het
Cdk1 C T 10: 69,176,328 (GRCm39) G260S possibly damaging Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Cenpp A T 13: 49,803,620 (GRCm39) V88E probably benign Het
Cfap46 TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC TCTTCTCCTTCTCCTTCTCC 7: 139,218,834 (GRCm39) Het
Dnah11 T A 12: 117,918,585 (GRCm39) R3449W probably damaging Het
Dnmt1 AGTTCCTACCTCGTT AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT 9: 20,821,427 (GRCm39) probably null Het
E4f1 AGGC AGGCGGC 17: 24,674,157 (GRCm39) probably benign Het
Efhd2 CCGCCG CCGCCGGCGCCG 4: 141,602,073 (GRCm39) probably benign Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,378 (GRCm39) probably null Het
Exd2 GCAGCAGCCGCAGCCACAGC GCAGC 12: 80,522,689 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,660 (GRCm39) probably benign Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Herc1 G C 9: 66,365,616 (GRCm39) G324R Het
Hsdl2 CAGCCACAGCTGCAG CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG 4: 59,610,644 (GRCm39) probably benign Het
Il2 GCTTGAAG GCTTGAAGCGGGCCTTGAAG 3: 37,179,969 (GRCm39) probably benign Het
Krtap28-10 CAG CAGCCCTAG 1: 83,019,867 (GRCm39) probably null Het
Krtap28-10 ACAGC ACAGCCACGGCCACCGCAGC 1: 83,020,007 (GRCm39) probably benign Het
Krtap4-9 GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG 11: 99,676,217 (GRCm39) probably benign Het
Lce1m TGCTGCC TGCTGCCCCCGCCGCTGCC 3: 92,925,587 (GRCm39) probably benign Het
Lrch1 TGGTGGTG T 14: 75,185,006 (GRCm39) probably null Het
Mgam C T 6: 40,657,642 (GRCm39) T999I probably benign Het
Mrtfa T C 15: 80,900,057 (GRCm39) E740G probably damaging Het
Nek1 A G 8: 61,525,779 (GRCm39) probably null Het
Phactr2 T A 10: 13,121,178 (GRCm39) Q503H probably benign Het
Ptprd T C 4: 76,046,802 (GRCm39) Y241C probably damaging Het
Rad51ap2 T G 12: 11,508,076 (GRCm39) V666G possibly damaging Het
Reep1 CC CCCGAC 6: 71,684,952 (GRCm39) probably null Het
Rfx4 CTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTCT 10: 84,694,349 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rnpc3 A T 3: 113,413,723 (GRCm39) S240T probably damaging Het
Rtbdn GCAGCG GCAGCGTCAGCG 8: 85,682,795 (GRCm39) probably benign Het
Sec31b G T 19: 44,524,226 (GRCm39) A138D probably damaging Het
Syne1 A T 10: 5,205,482 (GRCm39) W3495R probably damaging Het
Tgoln1 CC CCCGTGGGCTTGCCAGAATTACCTTC 6: 72,593,063 (GRCm39) probably benign Het
Tmtc3 T C 10: 100,313,728 (GRCm39) H48R probably benign Het
Trappc9 CTGCTGCT CTGCTGCTGCTGCTGATGCTGCT 15: 72,673,173 (GRCm39) probably benign Het
Trappc9 T TGCTGCTGCTGCTGCC 15: 72,673,180 (GRCm39) probably benign Het
Vsig2 T A 9: 37,450,559 (GRCm39) probably null Het
Wnk2 T C 13: 49,300,255 (GRCm39) T152A probably benign 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
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
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'- ATTGTTGTTGCACTTGACCC -3'
(R):5'- AGTCACACACTATGGCTGAATTTC -3'

Sequencing Primer
(F):5'- GTTGCACTTGACCCAGCAATG -3'
(R):5'- CACAACTGGAGAATCGTAC -3'
Posted On 2019-12-04