Incidental Mutation 'R5594:Ccdc80'
ID |
437737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc80
|
Ensembl Gene |
ENSMUSG00000022665 |
Gene Name |
coiled-coil domain containing 80 |
Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
MMRRC Submission |
043146-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5594 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44936626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 684
(R684C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
AlphaFold |
Q8R2G6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061050
AA Change: R684C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000058752 Gene: ENSMUSG00000022665 AA Change: R684C
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 benign
Transcript: ENSMUST00000099498
AA Change: R684C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000097097 Gene: ENSMUSG00000022665 AA Change: R684C
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (80/80) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
4931414P19Rik |
A |
G |
14: 54,822,441 (GRCm39) |
Y399H |
probably damaging |
Het |
Abca9 |
G |
T |
11: 110,035,688 (GRCm39) |
P644Q |
probably damaging |
Het |
Acly |
T |
C |
11: 100,412,946 (GRCm39) |
|
probably null |
Het |
Adamts14 |
A |
T |
10: 61,062,880 (GRCm39) |
|
probably null |
Het |
Ankdd1a |
T |
C |
9: 65,409,523 (GRCm39) |
N471S |
probably damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,076,000 (GRCm39) |
T1345A |
probably benign |
Het |
Arhgef40 |
T |
A |
14: 52,233,614 (GRCm39) |
L820H |
probably damaging |
Het |
Atp2b4 |
A |
G |
1: 133,658,248 (GRCm39) |
V554A |
probably damaging |
Het |
Birc7 |
G |
A |
2: 180,575,129 (GRCm39) |
|
probably null |
Het |
Cdc25b |
C |
A |
2: 131,033,538 (GRCm39) |
P159Q |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,841,252 (GRCm39) |
D647E |
probably benign |
Het |
Chek2 |
G |
T |
5: 111,003,700 (GRCm39) |
|
probably null |
Het |
Chil6 |
C |
T |
3: 106,301,745 (GRCm39) |
|
probably null |
Het |
Cr2 |
A |
G |
1: 194,839,498 (GRCm39) |
I643T |
probably damaging |
Het |
Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm39) |
Q187K |
probably benign |
Het |
Cyth4 |
A |
G |
15: 78,491,275 (GRCm39) |
|
probably null |
Het |
Depdc5 |
A |
G |
5: 33,058,834 (GRCm39) |
T268A |
possibly damaging |
Het |
Dnah17 |
G |
T |
11: 117,934,055 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,570,844 (GRCm39) |
Y2210C |
possibly damaging |
Het |
Elmod3 |
G |
A |
6: 72,571,799 (GRCm39) |
|
probably benign |
Het |
Eogt |
T |
A |
6: 97,092,996 (GRCm39) |
T394S |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,968,317 (GRCm39) |
V182A |
possibly damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,223 (GRCm39) |
I315T |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,728,629 (GRCm39) |
N76S |
probably damaging |
Het |
Gcc2 |
G |
T |
10: 58,123,064 (GRCm39) |
R1190M |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
Gm11543 |
T |
A |
11: 94,719,380 (GRCm39) |
|
noncoding transcript |
Het |
Hhip |
G |
T |
8: 80,723,492 (GRCm39) |
D387E |
probably damaging |
Het |
Hif1a |
T |
A |
12: 73,984,566 (GRCm39) |
Y46* |
probably null |
Het |
Hivep3 |
G |
T |
4: 119,980,245 (GRCm39) |
|
probably null |
Het |
Kif13a |
T |
A |
13: 46,906,338 (GRCm39) |
E535V |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,734,554 (GRCm39) |
Y15H |
probably damaging |
Het |
Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,933,982 (GRCm39) |
V3560E |
probably benign |
Het |
Megf11 |
T |
C |
9: 64,593,755 (GRCm39) |
F613L |
probably damaging |
Het |
Misp |
G |
A |
10: 79,662,977 (GRCm39) |
V465M |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Ms4a6c |
T |
A |
19: 11,455,537 (GRCm39) |
D115E |
probably benign |
Het |
Msh6 |
A |
G |
17: 88,293,497 (GRCm39) |
T751A |
probably benign |
Het |
Ntrk3 |
T |
A |
7: 78,101,647 (GRCm39) |
T429S |
probably benign |
Het |
Oplah |
A |
C |
15: 76,180,837 (GRCm39) |
*1289G |
probably null |
Het |
Or14j7 |
T |
A |
17: 38,234,502 (GRCm39) |
M15K |
probably benign |
Het |
Or7e166 |
T |
C |
9: 19,624,302 (GRCm39) |
Y60H |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhga6 |
A |
T |
18: 37,841,581 (GRCm39) |
T434S |
probably benign |
Het |
Pign |
A |
G |
1: 105,574,594 (GRCm39) |
|
probably benign |
Het |
Poteg |
A |
T |
8: 27,937,996 (GRCm39) |
I51F |
probably benign |
Het |
Prrc2c |
C |
A |
1: 162,526,600 (GRCm39) |
V204F |
unknown |
Het |
Rhbdd3 |
T |
C |
11: 5,055,710 (GRCm39) |
S325P |
probably damaging |
Het |
Rit1 |
T |
A |
3: 88,636,444 (GRCm39) |
L116Q |
probably damaging |
Het |
Rpl22 |
T |
A |
4: 152,410,259 (GRCm39) |
|
probably benign |
Het |
Rttn |
A |
G |
18: 89,108,560 (GRCm39) |
E1588G |
possibly damaging |
Het |
Sardh |
A |
G |
2: 27,110,735 (GRCm39) |
F577S |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,933,258 (GRCm39) |
D105E |
probably benign |
Het |
Slc22a23 |
T |
A |
13: 34,489,240 (GRCm39) |
D215V |
probably damaging |
Het |
Slc4a8 |
C |
A |
15: 100,693,768 (GRCm39) |
P438T |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Stk19 |
C |
T |
17: 35,039,538 (GRCm39) |
|
probably benign |
Het |
Stx5a |
T |
C |
19: 8,725,829 (GRCm39) |
I143T |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,067,339 (GRCm39) |
H2232R |
possibly damaging |
Het |
Trmt9b |
A |
G |
8: 36,979,452 (GRCm39) |
T352A |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,066,579 (GRCm39) |
I358T |
probably benign |
Het |
Tuba8 |
A |
G |
6: 121,202,863 (GRCm39) |
D392G |
possibly damaging |
Het |
Vmn1r1 |
G |
A |
1: 181,984,972 (GRCm39) |
P231L |
probably damaging |
Het |
Zfp330 |
A |
G |
8: 83,493,941 (GRCm39) |
W107R |
probably damaging |
Het |
Zfp715 |
T |
A |
7: 42,949,116 (GRCm39) |
Q281H |
possibly damaging |
Het |
Zfp9 |
T |
C |
6: 118,442,000 (GRCm39) |
T221A |
probably damaging |
Het |
Zgpat |
T |
C |
2: 181,007,420 (GRCm39) |
|
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 |
|
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'- ACTGTAAAACTGTTCCCACACATTG -3'
(R):5'- TTACAAACCTTGCCAGTAGGG -3'
Sequencing Primer
(F):5'- GAATGGTCTGCTTTGAGCT -3'
(R):5'- GCACCGTTTGTGGACTTATTGACC -3'
|
Posted On |
2016-10-26 |