Incidental Mutation 'R4494:Ccdc170'
ID 330894
Institutional Source Beutler Lab
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
MMRRC Submission 041582-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R4494 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4464128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 36 (Y36H)
Ref Sequence ENSEMBL: ENSMUSP00000122673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019901] [ENSMUST00000138112] [ENSMUST00000145465]
AlphaFold D3YXL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000019901
AA Change: Y84H

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: Y84H

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: Y90H

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: Y90H

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 damaging
Transcript: ENSMUST00000145465
AA Change: Y36H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122673
Gene: ENSMUSG00000019767
AA Change: Y36H

DomainStartEndE-ValueType
coiled coil region 6 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7ip T A 6: 136,540,747 (GRCm39) probably null Het
Cacna1b T C 2: 24,542,950 (GRCm39) T1301A probably damaging Het
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Camsap1 T C 2: 25,842,770 (GRCm39) D262G probably damaging Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Cd177 A T 7: 24,451,428 (GRCm39) S492T probably benign Het
Chrna4 T A 2: 180,670,281 (GRCm39) I492F probably damaging Het
Cit T C 5: 116,012,043 (GRCm39) Y217H probably damaging Het
Cnbd1 T A 4: 19,098,150 (GRCm39) D90V probably benign Het
Cryba2 A G 1: 74,929,789 (GRCm39) F116S probably damaging Het
Ctbp1 T C 5: 33,408,213 (GRCm39) T240A possibly damaging Het
D130043K22Rik C T 13: 25,055,339 (GRCm39) S501L probably benign Het
Ddhd2 A G 8: 26,228,261 (GRCm39) F553S probably benign Het
Ddr2 C A 1: 169,815,983 (GRCm39) G575W probably damaging Het
Dip2c T C 13: 9,621,098 (GRCm39) V537A possibly damaging Het
Dnah12 C T 14: 26,593,812 (GRCm39) A752V probably damaging Het
Dnah7a T C 1: 53,488,197 (GRCm39) D3260G probably benign Het
Efemp2 T A 19: 5,530,339 (GRCm39) C309S probably damaging Het
Gse1 G A 8: 121,297,553 (GRCm39) probably benign Het
Hspa4l T C 3: 40,707,636 (GRCm39) S53P possibly damaging Het
Ighv5-4 T C 12: 113,561,204 (GRCm39) D72G probably benign Het
Igkv15-103 A G 6: 68,414,780 (GRCm39) N73S probably benign Het
Igsf11 T G 16: 38,831,703 (GRCm39) N183K possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnk18 T C 19: 59,223,263 (GRCm39) V136A probably damaging Het
Krt75 A T 15: 101,480,136 (GRCm39) Y240* probably null Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Man2a2 C T 7: 80,009,023 (GRCm39) probably null Het
Mme A G 3: 63,254,613 (GRCm39) N491S probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msi2 T C 11: 88,608,185 (GRCm39) D39G possibly damaging Het
Naa60 T A 16: 3,718,585 (GRCm39) C122* probably null Het
Nes A G 3: 87,884,120 (GRCm39) E793G probably damaging Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Nme6 C T 9: 109,671,122 (GRCm39) L121F probably damaging Het
Or4k47 T A 2: 111,451,493 (GRCm39) K309* probably null Het
Otud1 C T 2: 19,664,146 (GRCm39) T425I probably damaging Het
Pimreg T C 11: 71,935,964 (GRCm39) V149A probably benign Het
Plbd1 T C 6: 136,590,856 (GRCm39) I437V probably damaging Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Slc1a3 G A 15: 8,668,579 (GRCm39) T462I probably damaging Het
Slc25a26 A G 6: 94,575,384 (GRCm39) T198A probably damaging Het
Stkld1 A G 2: 26,836,638 (GRCm39) N268S probably benign Het
Svop T C 5: 114,183,688 (GRCm39) T195A probably damaging Het
Syt6 A G 3: 103,492,946 (GRCm39) E66G probably damaging Het
Tas2r129 A G 6: 132,928,317 (GRCm39) I85V probably benign Het
Tent5a A G 9: 85,207,100 (GRCm39) S233P probably damaging Het
Tprn T C 2: 25,158,904 (GRCm39) S643P probably damaging Het
Ush2a C T 1: 188,285,473 (GRCm39) T2003I possibly damaging Het
Vmn2r17 T A 5: 109,576,335 (GRCm39) V402E probably damaging Het
Vmn2r3 C G 3: 64,182,692 (GRCm39) G336R probably damaging Het
Wdr89 A T 12: 75,679,521 (GRCm39) D244E 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
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
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'- CCCGAGTGGCATGAAATCAAC -3'
(R):5'- TAGCCACTAACAAACTGGGG -3'

Sequencing Primer
(F):5'- GGCATGAAATCAACTTAAGATGCTGC -3'
(R):5'- CCACTAACAAACTGGGGGATGTTTC -3'
Posted On 2015-07-21