Incidental Mutation 'R8983:Ccdc80'
| ID |
683849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44924780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 638
(V638A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
| AlphaFold |
Q8R2G6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061050
AA Change: V638A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: V638A
| 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 |
possibly damaging
Transcript: ENSMUST00000099498
AA Change: V638A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: V638A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,313,272 (GRCm39) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,719,069 (GRCm39) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,227,644 (GRCm39) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 34,977,232 (GRCm39) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,981,477 (GRCm39) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,508 (GRCm39) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,916,063 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm39) |
V509D |
possibly damaging |
Het |
| Ccr6 |
T |
G |
17: 8,474,878 (GRCm39) |
C28G |
probably damaging |
Het |
| Cdca7l |
A |
G |
12: 117,828,902 (GRCm39) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,654,328 (GRCm39) |
I52T |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,138,686 (GRCm39) |
N555I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,753,711 (GRCm39) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,419 (GRCm39) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,070,628 (GRCm39) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,671,535 (GRCm39) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,855,741 (GRCm39) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,830,139 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,914 (GRCm39) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,769,726 (GRCm39) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,400,357 (GRCm39) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,653,496 (GRCm39) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,875 (GRCm39) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,330,118 (GRCm39) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,791,410 (GRCm39) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,833,104 (GRCm39) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Loricrin |
T |
C |
3: 91,988,446 (GRCm39) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,553,962 (GRCm39) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,810,522 (GRCm39) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,634 (GRCm39) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,080,702 (GRCm39) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,953,042 (GRCm39) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,223,702 (GRCm39) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,512 (GRCm39) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,584,251 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,884,298 (GRCm39) |
D640N |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 102,962,092 (GRCm39) |
V703A |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,030,701 (GRCm39) |
S403P |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,934 (GRCm39) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,617,702 (GRCm39) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,974,905 (GRCm39) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,175 (GRCm39) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 24,172,253 (GRCm39) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 100,900,030 (GRCm39) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,459 (GRCm39) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,267 (GRCm39) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,775 (GRCm39) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,808,730 (GRCm39) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,958,815 (GRCm39) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,538,515 (GRCm39) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,263 (GRCm39) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,695,714 (GRCm39) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,464,404 (GRCm39) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,643,003 (GRCm39) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,327,360 (GRCm39) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,480,777 (GRCm39) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,006,158 (GRCm39) |
L412Q |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGTCAAAATGGTTTGGATCTTG -3'
(R):5'- GTCCCACCATAGATAAGAGGCC -3'
Sequencing Primer
(F):5'- GGATCTTGATTATGCAACTGCC -3'
(R):5'- AAAAACAAACCAACCCCAAACAAAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation