Incidental Mutation 'R7562:Ccdc80'
| ID |
585227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
045627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44943266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 792
(A792V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
| AlphaFold |
Q8R2G6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061050
AA Change: A792V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: A792V
| 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: A792V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: A792V
| 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: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,563 (GRCm39) |
T544M |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
| Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
| Arid2 |
T |
G |
15: 96,299,849 (GRCm39) |
H1787Q |
probably damaging |
Het |
| Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
| Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
| Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,081 (GRCm39) |
W103R |
possibly damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
| Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
| Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
| Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
| Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
| Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
| Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,031,306 (GRCm39) |
A415S |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
| Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
| Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
| Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
| Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
| Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
| Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
| Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
| Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,682,412 (GRCm39) |
T269A |
probably benign |
Het |
| Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
| Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
| Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACGGCTTTCAGAAACTGTG -3'
(R):5'- GAGACAGTACTTTGAAAGCAACTTC -3'
Sequencing Primer
(F):5'- GCTTTCAGAAACTGTGGAAGAGTTC -3'
(R):5'- CGGGAATGTGCATCTGAA -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation