Incidental Mutation 'R5454:Ccdc80'
| ID |
432694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
043018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 44947588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 855
(Y855*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
| AlphaFold |
Q8R2G6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061050
AA Change: Y855*
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: Y855*
| 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 null
Transcript: ENSMUST00000099498
AA Change: Y855*
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: Y855*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| 4930579C12Rik |
T |
C |
9: 89,051,041 (GRCm39) |
|
noncoding transcript |
Het |
| Ankfy1 |
A |
T |
11: 72,637,757 (GRCm39) |
H483L |
probably benign |
Het |
| Ankrd46 |
C |
T |
15: 36,479,447 (GRCm39) |
G215R |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,558,327 (GRCm39) |
I143V |
probably benign |
Het |
| Atp2b4 |
C |
A |
1: 133,657,610 (GRCm39) |
V627F |
probably damaging |
Het |
| Cd209b |
T |
C |
8: 3,975,396 (GRCm39) |
E88G |
probably damaging |
Het |
| Ceacam14 |
T |
G |
7: 17,548,110 (GRCm39) |
W67G |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,757,306 (GRCm39) |
V50A |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 38,987,759 (GRCm39) |
D168E |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,391,576 (GRCm39) |
M55R |
probably damaging |
Het |
| Enpp7 |
A |
T |
11: 118,879,634 (GRCm39) |
Y96F |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,584,327 (GRCm39) |
D60G |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,880,642 (GRCm39) |
|
probably benign |
Het |
| Frzb |
T |
C |
2: 80,248,259 (GRCm39) |
D280G |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,920,610 (GRCm39) |
I317V |
probably benign |
Het |
| Gm13030 |
A |
T |
4: 138,600,820 (GRCm39) |
|
probably benign |
Het |
| Gmds |
A |
G |
13: 32,312,024 (GRCm39) |
L135P |
probably damaging |
Het |
| Htra2 |
G |
A |
6: 83,030,995 (GRCm39) |
P138L |
probably damaging |
Het |
| Il5 |
A |
G |
11: 53,614,626 (GRCm39) |
N89S |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,315,834 (GRCm39) |
T310M |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,804 (GRCm39) |
I777V |
probably null |
Het |
| Kctd9 |
T |
C |
14: 67,977,836 (GRCm39) |
L382S |
probably damaging |
Het |
| Loricrin |
A |
G |
3: 91,988,789 (GRCm39) |
S166P |
unknown |
Het |
| Mga |
T |
A |
2: 119,733,810 (GRCm39) |
N219K |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,501,868 (GRCm39) |
R641* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,235,078 (GRCm39) |
A611T |
possibly damaging |
Het |
| Obox3-ps8 |
A |
T |
17: 36,763,903 (GRCm39) |
|
noncoding transcript |
Het |
| Or5p54 |
A |
T |
7: 107,554,096 (GRCm39) |
M83L |
probably benign |
Het |
| Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,899,314 (GRCm39) |
S49T |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,549 (GRCm39) |
D650G |
probably damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,516,509 (GRCm39) |
V167A |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,225,381 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
T |
19: 4,652,504 (GRCm39) |
V164F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,102,745 (GRCm39) |
|
probably null |
Het |
| Pmch |
A |
G |
10: 87,927,707 (GRCm39) |
E136G |
probably damaging |
Het |
| Prkar1a |
A |
G |
11: 109,550,886 (GRCm39) |
D80G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,560,647 (GRCm39) |
|
probably null |
Het |
| Slc10a7 |
T |
C |
8: 79,413,253 (GRCm39) |
S171P |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,301,008 (GRCm39) |
M153K |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,475 (GRCm39) |
I946V |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,535,495 (GRCm39) |
E71G |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,446 (GRCm39) |
D1025G |
unknown |
Het |
| Tnxb |
A |
G |
17: 34,928,599 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,205,439 (GRCm39) |
D649V |
possibly damaging |
Het |
| Usp13 |
G |
T |
3: 32,959,585 (GRCm39) |
A559S |
probably damaging |
Het |
| Vps45 |
G |
A |
3: 95,926,969 (GRCm39) |
P526L |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,457 (GRCm39) |
V855A |
probably damaging |
Het |
| Zfp771 |
T |
A |
7: 126,853,448 (GRCm39) |
C205S |
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 |
|
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'- TGCTATTTGGACACTCCTAGC -3'
(R):5'- GCATACTCATCTTCTGGGCAGC -3'
Sequencing Primer
(F):5'- CCTAGCAAACAACTGGCTTTTG -3'
(R):5'- ATCTTCTGGGCAGCGCATC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation