Incidental Mutation 'R4578:Ccdc80'
ID |
343445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc80
|
Ensembl Gene |
ENSMUSG00000022665 |
Gene Name |
coiled-coil domain containing 80 |
Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
MMRRC Submission |
041800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4578 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44915849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 202
(R202G)
|
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: R202G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000058752 Gene: ENSMUSG00000022665 AA Change: R202G
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: R202G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097097 Gene: ENSMUSG00000022665 AA Change: R202G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139509
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155800
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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 |
4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,164,258 (GRCm39) |
E906G |
probably benign |
Het |
Efcab6 |
A |
T |
15: 83,817,369 (GRCm39) |
S735T |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
Iqca1 |
T |
A |
1: 90,001,472 (GRCm39) |
I520F |
probably damaging |
Het |
Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
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 |
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 |
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'- CAAGAATGTTGCGATTCCCCTC -3'
(R):5'- GACCTCATACATGGCTTCCAG -3'
Sequencing Primer
(F):5'- AATATCCTGGCCAGCTTTGCAG -3'
(R):5'- TTCCAGCCTGACCGGGTAAG -3'
|
Posted On |
2015-09-24 |