Incidental Mutation 'R5911:Ccdc170'
ID 461006
Institutional Source Beutler Lab
Gene Symbol Ccdc170
Ensembl Gene ENSMUSG00000019767
Gene Name coiled-coil domain containing 170
Synonyms Gm221, LOC237250
MMRRC Submission 044108-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R5911 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 4432502-4512231 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 4508551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 592 (E592*)
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: E586*
SMART Domains Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
AA Change: E586*

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: E592*
SMART Domains Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
AA Change: E592*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 92% (77/84)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik C T 3: 124,350,380 (GRCm39) probably benign Het
Acacb A T 5: 114,370,951 (GRCm39) D1731V probably damaging Het
Afg3l1 G A 8: 124,226,778 (GRCm39) V563I possibly damaging Het
Ak7 A G 12: 105,692,471 (GRCm39) E175G probably damaging Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arid4a A T 12: 71,116,747 (GRCm39) T602S probably damaging Het
Caps2 C T 10: 112,001,591 (GRCm39) probably benign Het
Clasp1 C A 1: 118,434,638 (GRCm39) probably benign Het
Crhbp T A 13: 95,568,564 (GRCm39) M291L probably benign Het
Cyp3a41b T A 5: 145,519,349 (GRCm39) L47F probably benign Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Drc7 A G 8: 95,800,754 (GRCm39) E592G probably damaging Het
Dtl G A 1: 191,300,519 (GRCm39) T115I probably damaging Het
Ece2 A G 16: 20,457,510 (GRCm39) Y338C probably damaging Het
Egr3 A G 14: 70,316,897 (GRCm39) D198G probably damaging Het
Ereg A C 5: 91,222,552 (GRCm39) probably benign Het
Esp31 G C 17: 38,951,933 (GRCm39) probably null Het
Faap100 T C 11: 120,267,958 (GRCm39) I272V possibly damaging Het
Fam3c T C 6: 22,328,560 (GRCm39) D109G probably damaging Het
Fam3c T A 6: 22,339,299 (GRCm39) M51L probably benign Het
Fcnb A T 2: 27,966,701 (GRCm39) N277K probably damaging Het
Fgfr1 A G 8: 26,009,325 (GRCm39) probably benign Het
Gpr158 T C 2: 21,373,932 (GRCm39) F289S possibly damaging Het
Grik4 C A 9: 42,502,720 (GRCm39) V468F probably damaging Het
Gtdc1 T A 2: 44,642,076 (GRCm39) R168S probably benign Het
Gucy2c C T 6: 136,699,440 (GRCm39) G610R probably damaging Het
Gulp1 A T 1: 44,793,534 (GRCm39) Q65L possibly damaging Het
Hectd1 A T 12: 51,849,035 (GRCm39) D356E probably damaging Het
Hnrnpu T C 1: 178,157,737 (GRCm39) probably benign Het
Igkv13-57-2 T C 6: 69,500,971 (GRCm39) noncoding transcript Het
Itih4 A G 14: 30,612,612 (GRCm39) I213V possibly damaging Het
Itpr2 T C 6: 146,214,441 (GRCm39) K1469E probably benign Het
Jkampl T C 6: 73,445,674 (GRCm39) T292A probably damaging Het
Jrk T C 15: 74,577,617 (GRCm39) D556G possibly damaging Het
Kctd16 A T 18: 40,663,905 (GRCm39) I345F probably benign Het
Klhdc1 A G 12: 69,303,025 (GRCm39) E187G possibly damaging Het
Lrch3 T C 16: 32,779,833 (GRCm39) Y111H probably damaging Het
Mlh3 A T 12: 85,315,229 (GRCm39) V319D probably damaging Het
Nsd3 T C 8: 26,156,092 (GRCm39) L553P probably damaging Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or51q1 A T 7: 103,628,915 (GRCm39) H172L probably benign Het
Or5d38 C T 2: 87,955,027 (GRCm39) V101I probably benign Het
Or5e1 T A 7: 108,354,882 (GRCm39) I273N probably benign Het
Or5p66 T A 7: 107,885,605 (GRCm39) T243S probably damaging Het
Or7g26 T C 9: 19,230,445 (GRCm39) I205T probably benign Het
Pelp1 C T 11: 70,287,740 (GRCm39) R394H probably damaging Het
Ppp1r13l G T 7: 19,109,817 (GRCm39) probably null Het
Prr5 C A 15: 84,585,635 (GRCm39) S201* probably null Het
Rad23b T A 4: 55,370,474 (GRCm39) probably null Het
Rasgef1a T A 6: 118,061,335 (GRCm39) probably null Het
Ryr3 A T 2: 112,738,832 (GRCm39) I565N probably damaging Het
Slc30a5 T C 13: 100,945,600 (GRCm39) N527S probably damaging Het
Slc39a5 T A 10: 128,235,812 (GRCm39) N49Y probably damaging Het
Spast T A 17: 74,694,058 (GRCm39) S571T probably benign Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tgm7 T A 2: 120,926,454 (GRCm39) D480V probably benign Het
Thpo T A 16: 20,547,546 (GRCm39) S22C probably null Het
Top2a T A 11: 98,907,291 (GRCm39) T180S possibly damaging Het
Trim37 T A 11: 87,087,663 (GRCm39) Y34* probably null Het
Tsc2 T C 17: 24,819,361 (GRCm39) E1254G possibly damaging Het
Ttc39a C T 4: 109,280,168 (GRCm39) P150L possibly damaging Het
Ttc4 T C 4: 106,525,240 (GRCm39) D298G probably damaging Het
Ttll1 A G 15: 83,386,482 (GRCm39) V41A probably benign Het
Vmn1r20 C A 6: 57,408,774 (GRCm39) H33Q probably benign Het
Zan A T 5: 137,456,174 (GRCm39) Y1329N unknown 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
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'- GGACTGAAGTCATGCTTATCCAGC -3'
(R):5'- TCTCCGCTTCATCCAAAGAC -3'

Sequencing Primer
(F):5'- CATAGCTGCTTGGGATGAAGTC -3'
(R):5'- AAAGACTTCCTCAGGGTCTTCAG -3'
Posted On 2017-02-28