Incidental Mutation 'R7393:Ccdc170'
ID 573607
Institutional Source Beutler Lab
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
MMRRC Submission 045475-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R7393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 4464314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112] [ENSMUST00000145465]
AlphaFold D3YXL0
Predicted Effect probably null
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 null
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
Predicted Effect probably benign
Transcript: ENSMUST00000145465
SMART Domains Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767

DomainStartEndE-ValueType
coiled coil region 6 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Abi2 T C 1: 60,473,541 (GRCm39) M86T possibly damaging Het
Adam26a T C 8: 44,022,725 (GRCm39) N255S probably benign Het
Adam4 G A 12: 81,466,434 (GRCm39) S729L probably benign Het
Adcy1 G T 11: 7,087,381 (GRCm39) W418C probably damaging Het
Add2 T A 6: 86,075,629 (GRCm39) Y259* probably null Het
Agl A T 3: 116,584,805 (GRCm39) C172S probably benign Het
Ankfy1 A G 11: 72,629,134 (GRCm39) T319A possibly damaging Het
Armc8 A T 9: 99,366,052 (GRCm39) C621S possibly damaging Het
Atp5mj A G 12: 111,929,711 (GRCm39) V26A probably benign Het
Bbc3 A G 7: 16,047,714 (GRCm39) D146G probably benign Het
Btnl10 T C 11: 58,814,532 (GRCm39) L404P probably damaging Het
Cbl A G 9: 44,065,485 (GRCm39) probably null Het
Ccdc91 T A 6: 147,435,527 (GRCm39) V37E possibly damaging Het
Ces1e G T 8: 93,937,045 (GRCm39) T343K probably benign Het
Chfr T A 5: 110,300,224 (GRCm39) F323I probably damaging Het
Clcnkb T A 4: 141,136,756 (GRCm39) M370L probably benign Het
Col11a1 A G 3: 113,890,755 (GRCm39) D364G unknown Het
Ctbp2 A G 7: 132,590,021 (GRCm39) I381T probably benign Het
Cyp4a29 A C 4: 115,099,393 (GRCm39) Y38S probably damaging Het
Ddx1 T C 12: 13,280,354 (GRCm39) D382G probably benign Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam234a T C 17: 26,435,598 (GRCm39) D262G probably benign Het
Fnbp4 C A 2: 90,609,660 (GRCm39) Q1035K probably damaging Het
Gbp11 T A 5: 105,475,443 (GRCm39) N302Y possibly damaging Het
Gm11554 T A 11: 99,694,698 (GRCm39) T172S unknown Het
Hamp2 A T 7: 30,622,030 (GRCm39) M53K possibly damaging Het
Kcnj1 A G 9: 32,308,314 (GRCm39) D246G probably damaging Het
Kctd20 T C 17: 29,182,312 (GRCm39) F209L probably damaging Het
Klra2 T C 6: 131,207,165 (GRCm39) Y148C probably damaging Het
Krtap15-1 T C 16: 88,625,985 (GRCm39) probably null Het
Mrps23 T C 11: 88,095,284 (GRCm39) L6P probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo7a G A 7: 97,712,906 (GRCm39) R1690C possibly damaging Het
Nbas T C 12: 13,443,493 (GRCm39) S1183P probably damaging Het
Ndufaf4 T A 4: 24,903,177 (GRCm39) M122K probably benign Het
Nop2 C A 6: 125,110,509 (GRCm39) S45* probably null Het
Nop56 T A 2: 130,116,558 (GRCm39) L3Q probably benign Het
Nrp2 T C 1: 62,784,583 (GRCm39) I244T probably damaging Het
Or4d10c T A 19: 12,065,992 (GRCm39) T55S probably benign Het
Or51v14 A G 7: 103,261,198 (GRCm39) S121P possibly damaging Het
Otof T C 5: 30,527,614 (GRCm39) D1941G probably benign Het
Pcyox1l T C 18: 61,830,712 (GRCm39) K387E probably benign Het
Plcg2 A G 8: 118,306,564 (GRCm39) Y306C possibly damaging Het
Ppp1r13b G A 12: 111,805,188 (GRCm39) P333S probably damaging Het
Rcc2 A G 4: 140,444,341 (GRCm39) D344G probably damaging Het
Reln A T 5: 22,181,349 (GRCm39) N1810K probably damaging Het
Rfesd G T 13: 76,151,149 (GRCm39) A90E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scg2 T C 1: 79,412,948 (GRCm39) K552E probably damaging Het
Sdccag8 A G 1: 176,667,872 (GRCm39) I190V probably benign Het
Sele C A 1: 163,881,492 (GRCm39) T533K probably benign Het
Sh3bp4 T A 1: 89,072,170 (GRCm39) H339Q possibly damaging Het
Slc6a19 A G 13: 73,841,093 (GRCm39) S106P probably benign Het
Spidr C T 16: 15,964,695 (GRCm39) probably benign Het
Stk36 A T 1: 74,650,352 (GRCm39) K295* probably null Het
Synj1 A T 16: 90,748,887 (GRCm39) D1056E probably damaging Het
Tnks1bp1 T C 2: 84,893,210 (GRCm39) S1046P probably benign Het
Ttc27 T G 17: 75,077,259 (GRCm39) F385V possibly damaging Het
Ttn C A 2: 76,774,689 (GRCm39) G2164W unknown Het
Ubap1 T A 4: 41,379,764 (GRCm39) L326* probably null Het
Ubr4 A G 4: 139,154,096 (GRCm39) N812S probably damaging Het
Vmn1r160 A G 7: 22,570,778 (GRCm39) T44A possibly damaging Het
Vmn1r28 G A 6: 58,242,574 (GRCm39) S139N possibly damaging Het
Vmn2r116 A G 17: 23,605,099 (GRCm39) I137M probably benign Het
Vmn2r67 A T 7: 84,805,086 (GRCm39) W9R probably null Het
Zfp101 T C 17: 33,605,674 (GRCm39) N45D 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
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
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'- CCAGAAAGTCAGCTCTCCTC -3'
(R):5'- AAGGTTCTACGCTTGCAAAAGAC -3'

Sequencing Primer
(F):5'- GAAAGTCAGCTCTCCTCACGTC -3'
(R):5'- GCTTGCAAAAGACAACACTGTGTTTG -3'
Posted On 2019-09-13