Incidental Mutation 'R6888:Ccdc170'
ID |
537060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc170
|
Ensembl Gene |
ENSMUSG00000019767 |
Gene Name |
coiled-coil domain containing 170 |
Synonyms |
Gm221, LOC237250 |
MMRRC Submission |
044982-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R6888 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4496854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 458
(V458A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
AlphaFold |
D3YXL0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019901
AA Change: V458A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019901 Gene: ENSMUSG00000019767 AA Change: V458A
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 |
possibly damaging
Transcript: ENSMUST00000138112
AA Change: V464A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115997 Gene: ENSMUSG00000019767 AA Change: V464A
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: 99.4%
- 20x: 98.1%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg1 |
T |
C |
11: 120,238,141 (GRCm39) |
Y190C |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,656,788 (GRCm39) |
I2902T |
probably damaging |
Het |
AI429214 |
G |
A |
8: 37,460,987 (GRCm39) |
G45D |
possibly damaging |
Het |
Ambra1 |
A |
G |
2: 91,599,372 (GRCm39) |
D164G |
probably damaging |
Het |
Ap3b1 |
A |
T |
13: 94,545,299 (GRCm39) |
Q184L |
probably benign |
Het |
Arhgef17 |
T |
C |
7: 100,580,027 (GRCm39) |
D307G |
possibly damaging |
Het |
AY761185 |
A |
T |
8: 21,434,571 (GRCm39) |
Y52* |
probably null |
Het |
Bfsp1 |
A |
G |
2: 143,668,639 (GRCm39) |
S647P |
probably benign |
Het |
C130073F10Rik |
A |
G |
4: 101,747,453 (GRCm39) |
V192A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
Ccdc187 |
G |
A |
2: 26,179,746 (GRCm39) |
R238W |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,384,946 (GRCm39) |
S380G |
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,807,018 (GRCm39) |
H4R |
probably benign |
Het |
Cftr |
G |
A |
6: 18,313,729 (GRCm39) |
|
probably null |
Het |
Cstpp1 |
A |
G |
2: 91,252,239 (GRCm39) |
Y41H |
probably damaging |
Het |
Dnajc16 |
A |
G |
4: 141,504,303 (GRCm39) |
V219A |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,637,502 (GRCm39) |
I266F |
probably benign |
Het |
Dut |
A |
G |
2: 125,099,044 (GRCm39) |
D177G |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,807,076 (GRCm39) |
I331V |
probably benign |
Het |
Gm11110 |
A |
G |
17: 57,409,143 (GRCm39) |
|
probably benign |
Het |
Grm7 |
G |
T |
6: 111,335,314 (GRCm39) |
G575V |
possibly damaging |
Het |
Heatr3 |
A |
G |
8: 88,897,512 (GRCm39) |
Y531C |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,910,218 (GRCm39) |
V122A |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,949,373 (GRCm39) |
Y1915H |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,238 (GRCm39) |
D205E |
probably damaging |
Het |
Limch1 |
C |
T |
5: 67,179,269 (GRCm39) |
T713I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,361,138 (GRCm39) |
I555T |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,354,485 (GRCm39) |
F448I |
probably damaging |
Het |
Marchf6 |
T |
C |
15: 31,459,379 (GRCm39) |
K896E |
probably benign |
Het |
Mroh4 |
T |
C |
15: 74,485,098 (GRCm39) |
Y469C |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,056,383 (GRCm39) |
R361L |
probably benign |
Het |
Nos3 |
T |
C |
5: 24,588,333 (GRCm39) |
V1060A |
possibly damaging |
Het |
Nr1h4 |
A |
G |
10: 89,292,404 (GRCm39) |
I406T |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,379 (GRCm39) |
|
probably null |
Het |
Or2y15 |
A |
T |
11: 49,351,087 (GRCm39) |
T194S |
probably damaging |
Het |
Or5d14 |
A |
G |
2: 87,880,608 (GRCm39) |
M120T |
probably damaging |
Het |
Pals2 |
T |
G |
6: 50,157,257 (GRCm39) |
|
probably null |
Het |
Pbx2 |
A |
G |
17: 34,813,081 (GRCm39) |
Y119C |
possibly damaging |
Het |
Pdcd6ip |
C |
A |
9: 113,500,905 (GRCm39) |
A526S |
probably benign |
Het |
Prx |
G |
A |
7: 27,219,059 (GRCm39) |
D1187N |
possibly damaging |
Het |
Ptpro |
G |
A |
6: 137,357,198 (GRCm39) |
V230I |
probably benign |
Het |
Rtn3 |
C |
T |
19: 7,434,614 (GRCm39) |
M440I |
probably benign |
Het |
Sar1b |
T |
C |
11: 51,679,019 (GRCm39) |
I96T |
probably damaging |
Het |
Sds |
T |
C |
5: 120,618,965 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,833,977 (GRCm39) |
T706A |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,682,263 (GRCm39) |
M433L |
possibly damaging |
Het |
Sppl2a |
A |
G |
2: 126,746,912 (GRCm39) |
V472A |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,998,217 (GRCm39) |
E1258G |
possibly damaging |
Het |
Tbxas1 |
C |
A |
6: 38,929,008 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
C |
15: 66,568,095 (GRCm39) |
I1333T |
probably damaging |
Het |
Tmem108 |
C |
T |
9: 103,376,915 (GRCm39) |
G178D |
probably damaging |
Het |
Tmem174 |
A |
G |
13: 98,773,569 (GRCm39) |
L87P |
probably damaging |
Het |
Tmppe |
T |
A |
9: 114,233,769 (GRCm39) |
S23T |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,591,447 (GRCm39) |
T21074I |
probably benign |
Het |
Tub |
A |
G |
7: 108,628,505 (GRCm39) |
M338V |
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,571,531 (GRCm39) |
R295* |
probably null |
Het |
Vps52 |
T |
C |
17: 34,182,180 (GRCm39) |
V518A |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,177,675 (GRCm39) |
V909A |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,925,742 (GRCm39) |
T1241A |
probably benign |
Het |
Zfp882 |
G |
A |
8: 72,668,130 (GRCm39) |
C319Y |
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,880,860 (GRCm39) |
I308N |
possibly 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 |
R6818:Ccdc170
|
UTSW |
10 |
4,491,782 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAGCTCTGAGATGGCTGAAAG -3'
(R):5'- CTGCTCTCAGATCTTCAGAACTG -3'
Sequencing Primer
(F):5'- CTCTGAGATGGCTGAAAGATAAAG -3'
(R):5'- AACATGCTACTGATCATGGTGG -3'
|
Posted On |
2018-10-18 |