Incidental Mutation 'IGL01018:Ccdc170'
ID |
53822 |
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 # |
IGL01018
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4464114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 31
(V31A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
[ENSMUST00000145465]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019901
AA Change: V79A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: V79A
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 benign
Transcript: ENSMUST00000138112
AA Change: V85A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: V85A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145465
AA Change: V31A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122673 Gene: ENSMUSG00000019767 AA Change: V31A
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
96 |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
G |
T |
6: 133,271,460 (GRCm39) |
R168I |
probably benign |
Het |
5530400C23Rik |
A |
T |
6: 133,271,461 (GRCm39) |
R168S |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,400,732 (GRCm39) |
S160T |
probably benign |
Het |
Armt1 |
C |
T |
10: 4,404,237 (GRCm39) |
|
probably benign |
Het |
Glp2r |
C |
A |
11: 67,600,470 (GRCm39) |
V460F |
probably benign |
Het |
Gm21411 |
C |
T |
4: 146,977,067 (GRCm39) |
S69N |
possibly damaging |
Het |
Gm21411 |
T |
C |
4: 146,977,034 (GRCm39) |
Q80R |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,418,856 (GRCm38) |
P24L |
probably benign |
Het |
H2-M10.6 |
C |
T |
17: 37,123,112 (GRCm39) |
A15V |
probably benign |
Het |
H60c |
T |
C |
10: 3,209,766 (GRCm39) |
M174V |
probably benign |
Het |
H60c |
A |
C |
10: 3,210,343 (GRCm39) |
F69V |
probably benign |
Het |
Ipcef1 |
C |
T |
10: 6,869,968 (GRCm39) |
R144Q |
probably damaging |
Het |
Ipcef1 |
G |
A |
10: 6,840,551 (GRCm39) |
A382V |
probably benign |
Het |
Mapk8ip3 |
T |
G |
17: 25,118,693 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,982,345 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,928,708 (GRCm39) |
V100A |
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,957,800 (GRCm39) |
V279A |
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,764,180 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 112,957,613 (GRCm39) |
E1450G |
probably damaging |
Het |
Obscn |
C |
T |
11: 59,018,895 (GRCm39) |
V973M |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,987,170 (GRCm39) |
|
probably benign |
Het |
Or6p1 |
G |
A |
1: 174,258,908 (GRCm39) |
V305I |
probably benign |
Het |
Pou5f2 |
A |
G |
13: 78,174,057 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,252,113 (GRCm39) |
H891Y |
probably benign |
Het |
Ralgapa2 |
T |
G |
2: 146,252,112 (GRCm39) |
H806P |
probably benign |
Het |
Rmnd1 |
A |
G |
10: 4,377,392 (GRCm39) |
W96R |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,377,290 (GRCm39) |
S130T |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,721,991 (GRCm39) |
E1063G |
probably damaging |
Het |
Speer4a3 |
G |
T |
5: 26,155,721 (GRCm39) |
H208N |
probably benign |
Het |
Trappc12 |
A |
C |
12: 28,741,853 (GRCm39) |
|
probably benign |
Het |
Ulbp3 |
G |
A |
10: 3,075,031 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
C |
T |
10: 3,075,193 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
A |
G |
10: 3,070,231 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
A |
G |
10: 3,070,209 (GRCm39) |
|
noncoding transcript |
Het |
Vip |
A |
G |
10: 5,592,480 (GRCm39) |
D40G |
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,194 (GRCm39) |
Q191K |
probably benign |
Het |
Vmn2r125 |
A |
C |
4: 156,703,195 (GRCm39) |
Q191P |
probably benign |
Het |
Vmn2r125 |
A |
T |
4: 156,703,332 (GRCm39) |
T237S |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,703,140 (GRCm39) |
N173D |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,702,907 (GRCm39) |
|
probably benign |
Het |
Vmn2r125 |
T |
A |
4: 156,703,521 (GRCm39) |
L300M |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r129 |
C |
A |
4: 156,690,730 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
A |
T |
4: 156,690,441 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
G |
A |
4: 156,686,900 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
C |
4: 156,687,885 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
C |
4: 156,686,558 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r40 |
G |
A |
7: 8,911,175 (GRCm39) |
S706F |
probably damaging |
Het |
Zfp14 |
T |
A |
7: 29,737,526 (GRCm39) |
R486S |
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 |
4,464,155 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01018:Ccdc170
|
APN |
10 |
4,462,788 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
2013-06-28 |