Incidental Mutation 'IGL01377:Ccdc170'
ID |
78755 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL01377
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4510966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 675
(D675G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019901
AA Change: D669G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: D669G
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000138112
AA Change: D675G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: D675G
Domain | Start | End | E-Value | Type |
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,953,640 (GRCm39) |
|
probably null |
Het |
Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
Fyb1 |
T |
C |
15: 6,609,801 (GRCm39) |
S125P |
probably benign |
Het |
Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
Poc5 |
T |
C |
13: 96,538,139 (GRCm39) |
V268A |
probably benign |
Het |
Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
Slc1a7 |
A |
T |
4: 107,850,162 (GRCm39) |
D91V |
probably damaging |
Het |
Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
probably damaging |
Het |
|
Other mutations in Ccdc170 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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 |
|
|
Posted On |
2013-11-05 |