Incidental Mutation 'RF009:Ccdc170'
ID 603065
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 # RF009 (G1)
Quality Score 149.467
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) C to CCAG at 4511030 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: 99.3%
  • 20x: 98.5%
Validation Efficiency 96% (53/55)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik ACACACACCCGC AC 4: 136,189,661 (GRCm39) probably null Het
AI182371 A G 2: 34,979,209 (GRCm39) V153A possibly damaging Het
AI837181 CGG CGGTGG 19: 5,475,262 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,975 (GRCm39) probably benign Het
Apoc2 C T 7: 19,405,767 (GRCm39) M71I probably benign Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Atrn C A 2: 130,748,842 (GRCm39) T121K probably benign Het
Btnl12 T C 16: 37,674,841 (GRCm39) D207G probably benign Het
Cckbr GCA G 7: 105,083,893 (GRCm39) probably null Het
Cdk13 T C 13: 17,978,329 (GRCm39) D303G unknown Het
Cfap65 C A 1: 74,944,806 (GRCm39) R1477L probably damaging Het
Chd2 A G 7: 73,169,410 (GRCm39) S37P possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,176,127 (GRCm39) I259V probably benign Het
Csnk1d A T 11: 120,862,453 (GRCm39) N275K possibly damaging Het
Dmxl1 A C 18: 50,026,461 (GRCm39) R1856S probably damaging Het
Dnah5 T C 15: 28,204,165 (GRCm39) V14A probably benign Het
Edc4 G A 8: 106,615,812 (GRCm39) S729N probably benign Het
Emilin3 T C 2: 160,751,012 (GRCm39) S246G probably benign Het
Epc2 T G 2: 49,422,249 (GRCm39) probably null Het
Exoc6 T A 19: 37,560,068 (GRCm39) F101I probably benign Het
Fam171b GCAGCA GCAGCACCAGCA 2: 83,643,224 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,598 (GRCm39) probably benign Het
Gab3 CTT CTTATT X: 74,043,630 (GRCm39) probably null Het
Gabpa C A 16: 84,641,224 (GRCm39) Q93K probably benign Het
Gabre GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC X: 71,314,318 (GRCm39) probably benign Het
Gabre GGCTCA GGCTCAAGCTCA X: 71,314,319 (GRCm39) probably benign Het
H2-T3 TCCCGAAGAAC TC 17: 36,500,294 (GRCm39) probably benign Het
Htr5a A G 5: 28,047,859 (GRCm39) D138G probably damaging Het
Ifi207 G A 1: 173,556,558 (GRCm39) P727S probably benign Het
Ifna13 T A 4: 88,562,145 (GRCm39) S160C probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Klri2 GGAG GG 6: 129,710,737 (GRCm39) probably null Het
Lce1m GTTGCTGCCACTG GTTGCTGCCACTGTTGCTGCCACTG 3: 92,925,438 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Lrch4 A G 5: 137,635,805 (GRCm39) probably null Het
Lrrc2 TTGATTCGGTTCACC T 9: 110,810,744 (GRCm39) probably null Het
Map1a GCTCCAGC GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC 2: 121,136,782 (GRCm39) probably benign Het
Mettl25 T C 10: 105,669,100 (GRCm39) probably benign Het
Mex3b A G 7: 82,516,968 (GRCm39) D37G probably damaging Het
Mon1a T A 9: 107,778,433 (GRCm39) V219E probably damaging Het
Myh3 TTACG TTACGTACG 11: 66,977,183 (GRCm39) probably null Het
Myh3 GATTA GATTAATTA 11: 66,977,181 (GRCm39) probably null Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myo5b T A 18: 74,777,070 (GRCm39) C377S probably damaging Het
Nefh ACTTGGCCTCAGCTGGGG ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG 11: 4,890,997 (GRCm39) probably benign Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Ntn5 T C 7: 45,342,684 (GRCm39) probably null Het
Oog2 T C 4: 143,921,855 (GRCm39) V255A probably benign Het
Or5ac15 T A 16: 58,940,274 (GRCm39) H53L probably damaging Het
Or8b37 A T 9: 37,959,043 (GRCm39) H175L probably damaging Het
Pdgfd C A 9: 6,288,624 (GRCm39) L93M probably damaging Het
Pgls G T 8: 72,045,107 (GRCm39) V83L probably damaging Het
Pigw C A 11: 84,767,987 (GRCm39) Q447H probably damaging Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Poc1a C A 9: 106,172,417 (GRCm39) L253M possibly damaging Het
Ppl T A 16: 4,915,795 (GRCm39) E589D probably benign Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Prx T C 7: 27,218,385 (GRCm39) F1101S probably damaging Het
Rffl A G 11: 82,736,598 (GRCm39) V26A probably benign Het
Scube3 T A 17: 28,387,371 (GRCm39) L923Q probably damaging Het
Setd2 C T 9: 110,379,779 (GRCm39) P1198L probably damaging Het
Shank2 C A 7: 143,965,308 (GRCm39) A972E possibly damaging Het
Slc10a6 A G 5: 103,756,858 (GRCm39) L302P probably damaging Het
Slc29a3 C T 10: 60,586,340 (GRCm39) G42D probably benign Het
Spart T C 3: 55,035,027 (GRCm39) V471A probably benign Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Sspo T A 6: 48,436,919 (GRCm39) Y1284* probably null Het
Supt20 AGCAGC AGCAGCCGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Tcof1 GCA GCACCA 18: 60,968,815 (GRCm39) probably benign Het
Tff1 CTTCCTG C 17: 31,383,901 (GRCm39) probably benign Het
Tmprss13 ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC 9: 45,239,762 (GRCm39) probably benign Het
Tnfrsf25 T C 4: 152,204,081 (GRCm39) W341R probably damaging Het
Trappc9 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,136 (GRCm39) probably benign Het
Trav8d-1 T A 14: 53,016,207 (GRCm39) L31Q probably damaging Het
Ttc23 A T 7: 67,375,777 (GRCm39) I452F possibly damaging Het
Uimc1 T C 13: 55,198,598 (GRCm39) E526G possibly damaging Het
Ulbp1 T A 10: 7,397,405 (GRCm39) K233N unknown Het
Usp17ld A T 7: 102,899,495 (GRCm39) V479E probably damaging Het
Utrn T TGTTACCC 10: 12,509,689 (GRCm39) probably null Het
Vmn1r9 C T 6: 57,048,465 (GRCm39) S180L probably benign Het
Wdr97 GAGGAGGA G 15: 76,247,367 (GRCm39) probably null Het
Zfp598 CACC CACCCCTACC 17: 24,899,761 (GRCm39) 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
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'- TATTGTTGTTGCACTTGACCCAG -3'
(R):5'- GTCACACACTATGGCTGAATTTC -3'

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