Incidental Mutation 'R8034:Ccdc80'
| ID |
618149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
067471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R8034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44943238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 783
(I783V)
|
| 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: I783V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: I783V
| 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: I783V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: I783V
| 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: 100.0%
- 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,031,554 (GRCm39) |
Y391* |
probably null |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
| Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
| Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,449,281 (GRCm39) |
F41L |
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
| Fuz |
T |
C |
7: 44,545,684 (GRCm39) |
M1T |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
| Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
| Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
| Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
| Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
| Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
| Mctp1 |
G |
C |
13: 77,039,670 (GRCm39) |
L783F |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
| Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
| Pex6 |
G |
C |
17: 47,033,325 (GRCm39) |
G616A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
| Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
| Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
| Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
| Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
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 |
|
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'- AACGGCTTTCAGAAACTGTGG -3'
(R):5'- CTGAGACAGTACTTTGAAAGCAAC -3'
Sequencing Primer
(F):5'- GCTTTCAGAAACTGTGGAAGAGTTC -3'
(R):5'- AATATGTGTCCGGGAATGTGCATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation