Incidental Mutation 'IGL02223:Ccdc80'
| ID |
285242 |
| 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: 0.071)
|
| Stock # |
IGL02223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44915966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 241
(T241A)
|
| 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: T241A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: T241A
| 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: T241A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: T241A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155800
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,506,909 (GRCm39) |
W1148* |
probably null |
Het |
| Adam17 |
A |
G |
12: 21,411,706 (GRCm39) |
S62P |
possibly damaging |
Het |
| Akap8 |
T |
C |
17: 32,535,621 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,049,721 (GRCm39) |
N48S |
probably benign |
Het |
| Cct7 |
G |
T |
6: 85,439,023 (GRCm39) |
M112I |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,221,481 (GRCm39) |
A198T |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,205 (GRCm39) |
V264A |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,584 (GRCm39) |
T1071A |
probably benign |
Het |
| Dlst |
A |
G |
12: 85,177,692 (GRCm39) |
I362V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,163,955 (GRCm39) |
E3100G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,906 (GRCm39) |
R102L |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,693,817 (GRCm39) |
F162S |
probably damaging |
Het |
| Gipc2 |
G |
A |
3: 151,833,687 (GRCm39) |
P198L |
probably damaging |
Het |
| Gm5258 |
A |
G |
1: 86,251,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
A |
G |
17: 79,152,608 (GRCm39) |
T259A |
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,972 (GRCm39) |
N32S |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,340,171 (GRCm39) |
I999V |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,592,419 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
A |
G |
9: 44,697,609 (GRCm39) |
S165G |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,873,897 (GRCm39) |
S389P |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,211 (GRCm39) |
N172T |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,336,507 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,864 (GRCm39) |
N574S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,048,702 (GRCm39) |
D683G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,484 (GRCm39) |
E236G |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,861,967 (GRCm39) |
I202F |
probably damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,487,202 (GRCm39) |
Y129* |
probably null |
Het |
| Nlrp5 |
T |
C |
7: 23,129,447 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
G |
A |
9: 21,904,908 (GRCm39) |
R293C |
probably damaging |
Het |
| Or5k14 |
C |
T |
16: 58,693,057 (GRCm39) |
G152E |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,652,006 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,265 (GRCm39) |
S179P |
probably benign |
Het |
| Rexo4 |
C |
A |
2: 26,845,511 (GRCm39) |
C369F |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,209,993 (GRCm39) |
N692D |
possibly damaging |
Het |
| Scmh1 |
C |
A |
4: 120,372,416 (GRCm39) |
H406Q |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,445,060 (GRCm39) |
D372G |
probably damaging |
Het |
| Snip1 |
T |
C |
4: 124,966,545 (GRCm39) |
F325S |
possibly damaging |
Het |
| Spr-ps1 |
C |
T |
6: 85,132,181 (GRCm39) |
|
noncoding transcript |
Het |
| Stk36 |
A |
G |
1: 74,662,496 (GRCm39) |
Y538C |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,105,879 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,155,079 (GRCm39) |
T6787A |
probably benign |
Het |
| Tbcel |
T |
G |
9: 42,363,014 (GRCm39) |
M10L |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,599,022 (GRCm39) |
Y43* |
probably null |
Het |
| Tjp1 |
C |
T |
7: 64,972,349 (GRCm39) |
R605Q |
probably damaging |
Het |
| Tmem65 |
A |
G |
15: 58,662,000 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,769,753 (GRCm39) |
|
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,731,989 (GRCm39) |
E134G |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,472,081 (GRCm39) |
L91P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,807,463 (GRCm39) |
T90I |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,466 (GRCm39) |
E43G |
unknown |
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 |
|
|
IGL02573:Ccdc80
|
APN |
16 |
44,915,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Ccdc80
|
APN |
16 |
44,936,695 (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