Incidental Mutation 'IGL01726:Ccdc170'
ID |
105263 |
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 # |
IGL01726
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 4499713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 545
(L545M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019901
AA Change: L539M
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: L539M
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: L545M
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: L545M
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
T |
C |
3: 89,638,147 (GRCm39) |
|
probably null |
Het |
Arpc2 |
A |
G |
1: 74,287,338 (GRCm39) |
T53A |
probably benign |
Het |
Ccm2l |
T |
C |
2: 152,922,821 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,810,391 (GRCm39) |
N2166D |
probably benign |
Het |
Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
Clcnka |
C |
T |
4: 141,120,051 (GRCm39) |
|
probably null |
Het |
Clip2 |
A |
T |
5: 134,551,518 (GRCm39) |
N201K |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,589,485 (GRCm39) |
L110F |
possibly damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,947,467 (GRCm39) |
T6A |
unknown |
Het |
Enthd1 |
A |
C |
15: 80,336,652 (GRCm39) |
L594R |
probably damaging |
Het |
Espnl |
A |
G |
1: 91,272,626 (GRCm39) |
D618G |
probably benign |
Het |
Gm6096 |
A |
T |
7: 33,950,904 (GRCm39) |
I148F |
probably damaging |
Het |
Hsf5 |
C |
T |
11: 87,526,951 (GRCm39) |
T541I |
probably benign |
Het |
Il18r1 |
A |
G |
1: 40,537,563 (GRCm39) |
S443G |
possibly damaging |
Het |
Il1a |
T |
C |
2: 129,146,640 (GRCm39) |
D151G |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,754,166 (GRCm39) |
|
probably benign |
Het |
Kcnh1 |
A |
C |
1: 192,188,164 (GRCm39) |
D875A |
possibly damaging |
Het |
Naip6 |
T |
A |
13: 100,439,760 (GRCm39) |
I336F |
probably benign |
Het |
Napepld |
A |
G |
5: 21,880,657 (GRCm39) |
F246S |
possibly damaging |
Het |
Nova1 |
C |
T |
12: 46,760,280 (GRCm39) |
|
probably null |
Het |
Nsa2 |
C |
A |
13: 97,268,525 (GRCm39) |
A181S |
probably damaging |
Het |
Ntn5 |
C |
A |
7: 45,343,671 (GRCm39) |
R337S |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,101,611 (GRCm39) |
S427P |
probably benign |
Het |
Or52e5 |
A |
G |
7: 104,718,836 (GRCm39) |
E54G |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,055,867 (GRCm39) |
|
probably null |
Het |
Pfn4 |
T |
A |
12: 4,824,446 (GRCm39) |
L58I |
probably benign |
Het |
Plekha1 |
C |
A |
7: 130,499,059 (GRCm39) |
P116Q |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,300 (GRCm39) |
S81P |
possibly damaging |
Het |
Prag1 |
A |
G |
8: 36,570,146 (GRCm39) |
D243G |
probably damaging |
Het |
Rbm26 |
G |
A |
14: 105,389,943 (GRCm39) |
P227L |
probably damaging |
Het |
Rgl1 |
A |
T |
1: 152,394,904 (GRCm39) |
N756K |
probably damaging |
Het |
Rhou |
A |
T |
8: 124,380,880 (GRCm39) |
T66S |
possibly damaging |
Het |
Rspo3 |
A |
T |
10: 29,380,704 (GRCm39) |
D103E |
probably benign |
Het |
Rundc3b |
T |
C |
5: 8,570,902 (GRCm39) |
K306E |
probably benign |
Het |
Slc25a32 |
A |
G |
15: 38,965,466 (GRCm39) |
|
probably benign |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Tars3 |
A |
G |
7: 65,332,566 (GRCm39) |
T556A |
possibly damaging |
Het |
Tmem266 |
A |
G |
9: 55,342,486 (GRCm39) |
K324E |
probably benign |
Het |
Tnrc6c |
T |
C |
11: 117,640,161 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
T |
15: 72,817,971 (GRCm39) |
S452T |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,717,121 (GRCm39) |
|
probably benign |
Het |
Ttll5 |
T |
G |
12: 85,965,708 (GRCm39) |
I571S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,797,433 (GRCm39) |
T544A |
probably benign |
Het |
Ubn1 |
T |
C |
16: 4,891,334 (GRCm39) |
|
probably null |
Het |
Ubr2 |
C |
A |
17: 47,303,907 (GRCm39) |
|
probably benign |
Het |
Usp21 |
A |
T |
1: 171,111,574 (GRCm39) |
W360R |
probably damaging |
Het |
Vmn2r62 |
A |
T |
7: 42,414,526 (GRCm39) |
L639H |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,656,000 (GRCm39) |
I116N |
possibly damaging |
Het |
Zfp618 |
C |
T |
4: 63,050,872 (GRCm39) |
T551I |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 7,230,707 (GRCm39) |
|
probably benign |
Het |
Zkscan8 |
T |
C |
13: 21,704,973 (GRCm39) |
H322R |
probably benign |
Het |
Zwint |
T |
G |
10: 72,493,019 (GRCm39) |
|
probably null |
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 |
IGL01377:Ccdc170
|
APN |
10 |
4,510,966 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-01-21 |