Incidental Mutation 'R5452:Ccdc80'
| ID |
432603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
042848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5452 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44938528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 745
(R745Q)
|
| 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: R745Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: R745Q
| 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: R745Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: R745Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
T |
8: 41,248,801 (GRCm39) |
I304F |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Akr1c6 |
A |
G |
13: 4,504,544 (GRCm39) |
R132G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,183 (GRCm39) |
M1354K |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,844,311 (GRCm39) |
I911T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,743,150 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,721,233 (GRCm39) |
I2685T |
possibly damaging |
Het |
| Chkb |
T |
C |
15: 89,313,788 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,943,011 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,415,209 (GRCm39) |
Y175C |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,069,313 (GRCm39) |
S1154P |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,359,404 (GRCm39) |
S325P |
probably damaging |
Het |
| Fzd9 |
C |
T |
5: 135,279,714 (GRCm39) |
R57H |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm9949 |
A |
G |
18: 62,313,587 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
T |
3: 32,643,994 (GRCm39) |
M188K |
probably benign |
Het |
| Hr |
G |
T |
14: 70,794,067 (GRCm39) |
G109V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,812,328 (GRCm39) |
S2426P |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,610,413 (GRCm39) |
W88R |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Moxd2 |
C |
T |
6: 40,859,048 (GRCm39) |
|
probably null |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,556 (GRCm39) |
I64V |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,049,715 (GRCm39) |
S232G |
probably null |
Het |
| Or5p68 |
A |
C |
7: 107,945,312 (GRCm39) |
I292S |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,659,382 (GRCm39) |
F229S |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,666,172 (GRCm39) |
N1136S |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,398,811 (GRCm39) |
N254I |
possibly damaging |
Het |
| Plcb2 |
A |
G |
2: 118,548,727 (GRCm39) |
Y400H |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,608,926 (GRCm39) |
T412P |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,519 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,586,501 (GRCm39) |
N2510S |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,168 (GRCm39) |
S107T |
probably benign |
Het |
| Resf1 |
C |
A |
6: 149,230,611 (GRCm39) |
S1219* |
probably null |
Het |
| Rint1 |
G |
T |
5: 23,999,363 (GRCm39) |
A51S |
probably benign |
Het |
| Rsad1 |
T |
A |
11: 94,434,515 (GRCm39) |
R306S |
probably damaging |
Het |
| Sema3c |
T |
G |
5: 17,922,068 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
G |
A |
7: 140,444,928 (GRCm39) |
T290I |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,800,731 (GRCm39) |
G490D |
probably benign |
Het |
| Speer4f2 |
C |
T |
5: 17,581,498 (GRCm39) |
R147W |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,078,126 (GRCm39) |
I309L |
probably benign |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| St3gal4 |
C |
T |
9: 34,964,752 (GRCm39) |
R152H |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,591 (GRCm39) |
F532I |
probably damaging |
Het |
| Tacc1 |
C |
A |
8: 25,654,431 (GRCm39) |
K705N |
probably null |
Het |
| Tekt3 |
G |
T |
11: 62,985,619 (GRCm39) |
S475I |
probably damaging |
Het |
| Tjap1 |
T |
C |
17: 46,571,101 (GRCm39) |
T139A |
probably damaging |
Het |
| Tnfrsf8 |
T |
A |
4: 145,019,214 (GRCm39) |
K207M |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,937,831 (GRCm39) |
T965A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,814 (GRCm39) |
H270R |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,780,037 (GRCm39) |
L448P |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,480 (GRCm39) |
N110K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,948,471 (GRCm39) |
Y215H |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,698,783 (GRCm39) |
Y1595H |
possibly damaging |
Het |
| Unc45a |
G |
A |
7: 79,978,787 (GRCm39) |
P621S |
probably damaging |
Het |
| Xrn2 |
A |
T |
2: 146,866,633 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCCCAATTTCAAGCAACTAG -3'
(R):5'- TGATTCTGAGTCATCAACGTCAAC -3'
Sequencing Primer
(F):5'- ATTTCAAGCAACTAGCAGATAGTAC -3'
(R):5'- CAGACAGACAGGAAGGAAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation