Incidental Mutation 'IGL02675:Ccdc80'
| ID |
303083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 44936695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 707
(T707P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
| AlphaFold |
Q8R2G6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061050
AA Change: T707P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: T707P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF4174
|
141 |
270 |
2.2e-31 |
PFAM |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
497 |
N/A |
INTRINSIC |
|
coiled coil region
|
554 |
587 |
N/A |
INTRINSIC |
|
Pfam:DUF4174
|
614 |
748 |
3.1e-36 |
PFAM |
|
Pfam:DUF4174
|
770 |
901 |
2.1e-36 |
PFAM |
|
low complexity region
|
917 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099498
AA Change: T707P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: T707P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF4174
|
140 |
271 |
8.9e-34 |
PFAM |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
497 |
N/A |
INTRINSIC |
|
coiled coil region
|
554 |
587 |
N/A |
INTRINSIC |
|
Pfam:DUF4174
|
613 |
749 |
1.4e-21 |
PFAM |
|
Pfam:DUF4174
|
769 |
902 |
3.5e-39 |
PFAM |
|
low complexity region
|
917 |
940 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit increased adiposity, hyperglycemia, glucose intolerance, impaired insulin secretion, and altered energy intake and expenditure when fed a high-fat diet. Mice homozygous for a different null allele develop thyroid adenomas and ovarian carcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
probably benign |
Het |
|
| Other mutations in Ccdc80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Ccdc80
|
APN |
16 |
44,916,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01781:Ccdc80
|
APN |
16 |
44,946,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Ccdc80
|
APN |
16 |
44,938,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02163:Ccdc80
|
APN |
16 |
44,916,477 (GRCm39) |
missense |
probably benign |
|
|
IGL02223:Ccdc80
|
APN |
16 |
44,915,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Ccdc80
|
APN |
16 |
44,915,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Ccdc80
|
APN |
16 |
44,916,772 (GRCm39) |
nonsense |
probably null |
|
|
R0219:Ccdc80
|
UTSW |
16 |
44,916,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Ccdc80
|
UTSW |
16 |
44,915,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Ccdc80
|
UTSW |
16 |
44,916,299 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1726:Ccdc80
|
UTSW |
16 |
44,916,368 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1885:Ccdc80
|
UTSW |
16 |
44,917,083 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2021:Ccdc80
|
UTSW |
16 |
44,943,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Ccdc80
|
UTSW |
16 |
44,947,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Ccdc80
|
UTSW |
16 |
44,938,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Ccdc80
|
UTSW |
16 |
44,916,984 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3941:Ccdc80
|
UTSW |
16 |
44,916,455 (GRCm39) |
missense |
probably benign |
|
|
R3971:Ccdc80
|
UTSW |
16 |
44,916,183 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4082:Ccdc80
|
UTSW |
16 |
44,943,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Ccdc80
|
UTSW |
16 |
44,915,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Ccdc80
|
UTSW |
16 |
44,915,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Ccdc80
|
UTSW |
16 |
44,915,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Ccdc80
|
UTSW |
16 |
44,924,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Ccdc80
|
UTSW |
16 |
44,916,261 (GRCm39) |
missense |
probably benign |
|
|
R4921:Ccdc80
|
UTSW |
16 |
44,938,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Ccdc80
|
UTSW |
16 |
44,936,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5452:Ccdc80
|
UTSW |
16 |
44,938,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Ccdc80
|
UTSW |
16 |
44,947,588 (GRCm39) |
nonsense |
probably null |
|
|
R5594:Ccdc80
|
UTSW |
16 |
44,936,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5661:Ccdc80
|
UTSW |
16 |
44,947,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:Ccdc80
|
UTSW |
16 |
44,936,741 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6106:Ccdc80
|
UTSW |
16 |
44,917,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6393:Ccdc80
|
UTSW |
16 |
44,916,828 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6633:Ccdc80
|
UTSW |
16 |
44,915,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6943:Ccdc80
|
UTSW |
16 |
44,915,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:Ccdc80
|
UTSW |
16 |
44,924,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Ccdc80
|
UTSW |
16 |
44,943,252 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7208:Ccdc80
|
UTSW |
16 |
44,917,073 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7486:Ccdc80
|
UTSW |
16 |
44,946,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Ccdc80
|
UTSW |
16 |
44,916,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Ccdc80
|
UTSW |
16 |
44,915,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7562:Ccdc80
|
UTSW |
16 |
44,943,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Ccdc80
|
UTSW |
16 |
44,946,798 (GRCm39) |
splice site |
probably null |
|
|
R7739:Ccdc80
|
UTSW |
16 |
44,916,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7740:Ccdc80
|
UTSW |
16 |
44,924,888 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8034:Ccdc80
|
UTSW |
16 |
44,943,238 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8150:Ccdc80
|
UTSW |
16 |
44,947,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Ccdc80
|
UTSW |
16 |
44,915,612 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8843:Ccdc80
|
UTSW |
16 |
44,947,470 (GRCm39) |
intron |
probably benign |
|
|
R8983:Ccdc80
|
UTSW |
16 |
44,924,780 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9263:Ccdc80
|
UTSW |
16 |
44,915,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9570:Ccdc80
|
UTSW |
16 |
44,915,449 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9584:Ccdc80
|
UTSW |
16 |
44,915,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0012:Ccdc80
|
UTSW |
16 |
44,916,788 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Ccdc80
|
UTSW |
16 |
44,936,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc80
|
UTSW |
16 |
44,916,570 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Ccdc80
|
UTSW |
16 |
44,916,149 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation