Incidental Mutation 'IGL02110:Ccdc170'
| ID |
280113 |
| 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 # |
IGL02110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
4432502-4512231 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 4491885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019901]
[ENSMUST00000138112]
|
| AlphaFold |
D3YXL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019901
|
| SMART Domains |
Protein: ENSMUSP00000019901
Gene: ENSMUSG00000019767
| 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 null
Transcript: ENSMUST00000138112
|
| SMART Domains |
Protein: ENSMUSP00000115997
Gene: ENSMUSG00000019767
| 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 |
noncoding transcript
Transcript: ENSMUST00000157064
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
A |
G |
15: 77,598,548 (GRCm39) |
|
probably null |
Het |
| Arhgef40 |
C |
T |
14: 52,226,862 (GRCm39) |
T302M |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,371 (GRCm39) |
L458P |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,373,336 (GRCm39) |
E43G |
probably benign |
Het |
| Bod1l |
C |
T |
5: 41,973,796 (GRCm39) |
C2506Y |
probably damaging |
Het |
| Chpf2 |
A |
G |
5: 24,796,710 (GRCm39) |
E552G |
probably damaging |
Het |
| Comp |
T |
A |
8: 70,826,289 (GRCm39) |
I23N |
probably benign |
Het |
| Cxcl2 |
T |
C |
5: 91,052,211 (GRCm39) |
|
probably benign |
Het |
| Dctn5 |
T |
C |
7: 121,734,374 (GRCm39) |
F73L |
probably damaging |
Het |
| Ddx5 |
T |
C |
11: 106,675,835 (GRCm39) |
E285G |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,281 (GRCm39) |
|
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,430,998 (GRCm39) |
I229N |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,450,739 (GRCm39) |
T3897I |
possibly damaging |
Het |
| Dvl2 |
T |
A |
11: 69,898,842 (GRCm39) |
|
probably benign |
Het |
| Dytn |
A |
T |
1: 63,686,632 (GRCm39) |
V346E |
possibly damaging |
Het |
| Eepd1 |
T |
C |
9: 25,514,698 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,211,084 (GRCm39) |
A343S |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,982,066 (GRCm39) |
|
probably null |
Het |
| Gckr |
A |
T |
5: 31,456,082 (GRCm39) |
T81S |
possibly damaging |
Het |
| Gm6139 |
T |
A |
5: 129,700,656 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,372,530 (GRCm39) |
C657* |
probably null |
Het |
| Greb1l |
A |
G |
18: 10,515,271 (GRCm39) |
I89V |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,127 (GRCm39) |
P421S |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,753,082 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,374,039 (GRCm39) |
L669P |
probably benign |
Het |
| Mios |
A |
G |
6: 8,215,565 (GRCm39) |
R254G |
probably damaging |
Het |
| Mmp19 |
A |
G |
10: 128,630,727 (GRCm39) |
N116D |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Nadsyn1 |
T |
C |
7: 143,367,164 (GRCm39) |
Y141C |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,491 (GRCm39) |
|
noncoding transcript |
Het |
| Nob1 |
A |
T |
8: 108,142,804 (GRCm39) |
*160R |
probably null |
Het |
| Or10ac1 |
A |
G |
6: 42,515,113 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1f12 |
T |
A |
13: 21,722,112 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,697 (GRCm39) |
T228A |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or51s1 |
C |
T |
7: 102,558,402 (GRCm39) |
V215I |
probably benign |
Het |
| Or56b1b |
C |
A |
7: 108,164,286 (GRCm39) |
A239S |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,298,994 (GRCm39) |
D658G |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,466 (GRCm39) |
S299A |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,753,863 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
A |
G |
3: 151,541,097 (GRCm39) |
V137A |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,167,108 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
C |
T |
7: 5,128,346 (GRCm39) |
A195T |
probably benign |
Het |
| Ripor3 |
T |
A |
2: 167,836,626 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,243,632 (GRCm39) |
A30E |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,836,032 (GRCm39) |
C852* |
probably null |
Het |
| Slc17a9 |
A |
G |
2: 180,374,369 (GRCm39) |
|
probably benign |
Het |
| Slco6b1 |
A |
T |
1: 96,915,607 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca2 |
A |
G |
19: 26,650,140 (GRCm39) |
Y704C |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,642,003 (GRCm39) |
H291L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,907,289 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,982,647 (GRCm39) |
|
probably benign |
Het |
| Tmco6 |
T |
C |
18: 36,868,219 (GRCm39) |
|
probably benign |
Het |
| Tmpo |
A |
C |
10: 90,998,727 (GRCm39) |
S353R |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,311,493 (GRCm39) |
Q1757L |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,754 (GRCm39) |
|
probably benign |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,534 (GRCm39) |
V714A |
possibly damaging |
Het |
| Zfp407 |
G |
T |
18: 84,577,165 (GRCm39) |
A1316D |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,803,938 (GRCm39) |
I2560N |
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 |
|
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 |
2015-04-16 |
Incidental Mutation