Incidental Mutation 'R6818:Ccdc170'
ID |
537434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
MMRRC Submission |
044930-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R6818 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4491782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 401
(E401G)
|
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: E395G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: E395G
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: E401G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: E401G
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,865,089 (GRCm39) |
|
probably null |
Het |
Acot4 |
A |
C |
12: 84,088,783 (GRCm39) |
E210D |
probably damaging |
Het |
Adamts9 |
A |
C |
6: 92,882,172 (GRCm39) |
S476A |
probably damaging |
Het |
Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
Ambp |
G |
T |
4: 63,072,243 (GRCm39) |
S17* |
probably null |
Het |
Anxa6 |
T |
A |
11: 54,870,326 (GRCm39) |
M662L |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,868,329 (GRCm39) |
I467T |
possibly damaging |
Het |
B3gat1 |
G |
T |
9: 26,662,998 (GRCm39) |
|
probably benign |
Het |
Bccip |
T |
G |
7: 133,319,488 (GRCm39) |
I193S |
probably damaging |
Het |
Cldn16 |
A |
G |
16: 26,296,257 (GRCm39) |
T78A |
probably damaging |
Het |
Cldn24 |
G |
T |
8: 48,275,757 (GRCm39) |
A194S |
probably benign |
Het |
Cltc |
A |
G |
11: 86,595,054 (GRCm39) |
V1348A |
possibly damaging |
Het |
Clvs1 |
T |
C |
4: 9,282,014 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 16,235,341 (GRCm39) |
D1161N |
probably damaging |
Het |
Cuzd1 |
A |
G |
7: 130,918,394 (GRCm39) |
V181A |
probably damaging |
Het |
Dhx30 |
A |
G |
9: 109,917,099 (GRCm39) |
I435T |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,091,835 (GRCm39) |
V858A |
probably benign |
Het |
Dnmt3b |
C |
T |
2: 153,528,204 (GRCm39) |
T822M |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,593,082 (GRCm39) |
F97I |
possibly damaging |
Het |
Dock8 |
T |
C |
19: 25,146,865 (GRCm39) |
|
probably null |
Het |
Dvl2 |
T |
C |
11: 69,900,099 (GRCm39) |
L631P |
probably damaging |
Het |
Faf2 |
T |
A |
13: 54,789,419 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
A |
11: 55,200,167 (GRCm39) |
H969L |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,815,544 (GRCm39) |
V3759E |
probably benign |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gm973 |
T |
C |
1: 59,669,328 (GRCm39) |
L793P |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,981,327 (GRCm39) |
I236T |
probably damaging |
Het |
Hif1a |
A |
T |
12: 73,992,337 (GRCm39) |
R765* |
probably null |
Het |
Htt |
A |
G |
5: 34,940,111 (GRCm39) |
K77E |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,423,304 (GRCm39) |
Q826K |
probably benign |
Het |
Inafm1 |
C |
T |
7: 16,007,086 (GRCm39) |
A44T |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,748 (GRCm39) |
T240A |
probably damaging |
Het |
Klk1 |
A |
T |
7: 43,878,883 (GRCm39) |
I124F |
probably damaging |
Het |
Krbox5 |
A |
G |
13: 67,981,986 (GRCm39) |
Q66R |
possibly damaging |
Het |
Kremen1 |
T |
C |
11: 5,145,051 (GRCm39) |
T442A |
probably benign |
Het |
Mei4 |
T |
A |
9: 81,907,574 (GRCm39) |
D202E |
probably benign |
Het |
Mest |
T |
A |
6: 30,746,286 (GRCm39) |
D284E |
probably damaging |
Het |
Nsfl1c |
T |
A |
2: 151,344,940 (GRCm39) |
Y95* |
probably null |
Het |
Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,550 (GRCm39) |
M293V |
probably damaging |
Het |
Or2ak4 |
T |
A |
11: 58,648,783 (GRCm39) |
C97* |
probably null |
Het |
Or4k38 |
T |
G |
2: 111,165,659 (GRCm39) |
I255L |
probably benign |
Het |
Pgm1 |
T |
A |
4: 99,820,763 (GRCm39) |
I220N |
probably damaging |
Het |
Pirt |
T |
A |
11: 66,816,719 (GRCm39) |
V10E |
possibly damaging |
Het |
Prl7d1 |
C |
A |
13: 27,898,454 (GRCm39) |
M19I |
probably benign |
Het |
Samhd1 |
T |
C |
2: 156,949,417 (GRCm39) |
N490D |
probably benign |
Het |
Scn2a |
C |
A |
2: 65,519,013 (GRCm39) |
S413* |
probably null |
Het |
Serpinb6e |
A |
T |
13: 34,016,337 (GRCm39) |
|
probably null |
Het |
Slitrk5 |
A |
G |
14: 111,917,726 (GRCm39) |
D450G |
probably benign |
Het |
Tchh |
A |
G |
3: 93,350,718 (GRCm39) |
T53A |
probably damaging |
Het |
Tmem44 |
A |
T |
16: 30,362,039 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,448 (GRCm39) |
E114G |
possibly damaging |
Het |
Treml2 |
A |
G |
17: 48,609,925 (GRCm39) |
Y119C |
probably damaging |
Het |
Ubxn1 |
T |
A |
19: 8,851,245 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
T |
10: 130,222,147 (GRCm39) |
M691K |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,168,193 (GRCm39) |
I816F |
possibly damaging |
Het |
Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
Het |
Wfdc2 |
T |
C |
2: 164,405,070 (GRCm39) |
|
probably null |
Het |
Zscan4-ps3 |
T |
C |
7: 11,346,986 (GRCm39) |
S341P |
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 |
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 |
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'- TGGAGTGATGGATCTGAACAC -3'
(R):5'- GGGTTGACAATCAAAAGAACCC -3'
Sequencing Primer
(F):5'- CACTTAGTTGGGTCTAAACAAGGC -3'
(R):5'- CACTGCAATATTCAAGACATTCTCAG -3'
|
Posted On |
2018-10-18 |