Incidental Mutation 'R7740:Ccdc80'
ID |
596520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc80
|
Ensembl Gene |
ENSMUSG00000022665 |
Gene Name |
coiled-coil domain containing 80 |
Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
MMRRC Submission |
045796-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R7740 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44924888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 674
(H674R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061050]
[ENSMUST00000099498]
|
AlphaFold |
Q8R2G6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061050
AA Change: H674R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000058752 Gene: ENSMUSG00000022665 AA Change: H674R
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 |
possibly damaging
Transcript: ENSMUST00000099498
AA Change: H674R
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097097 Gene: ENSMUSG00000022665 AA Change: H674R
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: 99.2%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
G |
A |
5: 109,885,370 (GRCm39) |
Q163* |
probably null |
Het |
Anxa6 |
T |
A |
11: 54,898,725 (GRCm39) |
T150S |
probably damaging |
Het |
Bpifb6 |
T |
A |
2: 153,744,929 (GRCm39) |
L45Q |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,828,568 (GRCm39) |
D1121G |
probably damaging |
Het |
C1ql3 |
A |
G |
2: 13,015,483 (GRCm39) |
I59T |
possibly damaging |
Het |
Cdhr1 |
T |
G |
14: 36,811,337 (GRCm39) |
E258A |
probably damaging |
Het |
Ces2g |
T |
A |
8: 105,692,962 (GRCm39) |
F333L |
probably damaging |
Het |
Chn2 |
C |
T |
6: 54,277,156 (GRCm39) |
T445I |
probably benign |
Het |
Cpe |
T |
C |
8: 65,050,562 (GRCm39) |
D382G |
possibly damaging |
Het |
Crb1 |
T |
A |
1: 139,165,428 (GRCm39) |
I960L |
probably benign |
Het |
Cyp4a14 |
A |
T |
4: 115,350,806 (GRCm39) |
V156D |
probably damaging |
Het |
Ddx23 |
A |
T |
15: 98,556,315 (GRCm39) |
M1K |
probably null |
Het |
Dnajc7 |
T |
C |
11: 100,482,387 (GRCm39) |
I202V |
probably benign |
Het |
Dsn1 |
T |
A |
2: 156,839,636 (GRCm39) |
D255V |
possibly damaging |
Het |
Dvl3 |
A |
T |
16: 20,346,000 (GRCm39) |
|
probably null |
Het |
Epm2a |
A |
G |
10: 11,266,684 (GRCm39) |
D143G |
possibly damaging |
Het |
Erc1 |
T |
A |
6: 119,738,149 (GRCm39) |
M565L |
probably benign |
Het |
Fancm |
T |
C |
12: 65,173,321 (GRCm39) |
C1878R |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,590,834 (GRCm39) |
E946G |
probably damaging |
Het |
Gm9195 |
C |
T |
14: 72,678,113 (GRCm39) |
R2352K |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,790,122 (GRCm39) |
|
probably benign |
Het |
Haus5 |
G |
A |
7: 30,362,678 (GRCm39) |
A44V |
possibly damaging |
Het |
Herc4 |
A |
G |
10: 63,105,457 (GRCm39) |
Y146C |
probably benign |
Het |
Herc6 |
T |
G |
6: 57,636,802 (GRCm39) |
|
probably null |
Het |
Hivep2 |
G |
T |
10: 14,003,414 (GRCm39) |
G4V |
probably damaging |
Het |
Hsdl2 |
G |
T |
4: 59,612,724 (GRCm39) |
G425V |
probably damaging |
Het |
Igkv1-110 |
C |
T |
6: 68,247,974 (GRCm39) |
L28F |
probably benign |
Het |
Il21r |
T |
A |
7: 125,231,727 (GRCm39) |
L385Q |
possibly damaging |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Krtap5-2 |
C |
T |
7: 141,728,699 (GRCm39) |
C149Y |
unknown |
Het |
Lingo2 |
T |
A |
4: 35,709,248 (GRCm39) |
N244I |
probably damaging |
Het |
Lrrk2 |
C |
T |
15: 91,651,527 (GRCm39) |
R1728C |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,578,096 (GRCm39) |
|
probably benign |
Het |
Malrd1 |
G |
A |
2: 15,619,026 (GRCm39) |
V297I |
not run |
Het |
Mars1 |
T |
A |
10: 127,136,444 (GRCm39) |
E460D |
probably benign |
Het |
Nr1i3 |
A |
G |
1: 171,044,396 (GRCm39) |
I174V |
probably benign |
Het |
Odf2 |
C |
T |
2: 29,820,636 (GRCm39) |
T814M |
probably damaging |
Het |
Or10q1 |
T |
C |
19: 13,727,328 (GRCm39) |
V286A |
probably benign |
Het |
Or4k1 |
T |
C |
14: 50,377,803 (GRCm39) |
M98V |
probably benign |
Het |
Or4k52 |
A |
T |
2: 111,610,793 (GRCm39) |
I43F |
possibly damaging |
Het |
Pcdhga8 |
T |
C |
18: 37,860,470 (GRCm39) |
S509P |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,374,102 (GRCm39) |
L2011S |
probably benign |
Het |
Pole |
T |
A |
5: 110,478,907 (GRCm39) |
S1930T |
probably benign |
Het |
Poteg |
T |
A |
8: 27,952,052 (GRCm39) |
|
probably null |
Het |
Ptprk |
T |
A |
10: 28,372,920 (GRCm39) |
C724S |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,509,673 (GRCm39) |
E468G |
probably benign |
Het |
Rbm12b1 |
G |
T |
4: 12,145,954 (GRCm39) |
R642L |
probably benign |
Het |
Relch |
T |
C |
1: 105,658,986 (GRCm39) |
V914A |
probably damaging |
Het |
S1pr4 |
A |
T |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
Sim2 |
A |
G |
16: 93,915,819 (GRCm39) |
I261V |
probably benign |
Het |
Slc22a12 |
C |
A |
19: 6,587,199 (GRCm39) |
A448S |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,636,666 (GRCm39) |
|
probably null |
Het |
Slc6a7 |
T |
C |
18: 61,133,495 (GRCm39) |
E567G |
possibly damaging |
Het |
St6gal1 |
T |
C |
16: 23,139,785 (GRCm39) |
|
probably benign |
Het |
Syne3 |
T |
C |
12: 104,920,546 (GRCm39) |
K550R |
probably benign |
Het |
Tekt1 |
T |
A |
11: 72,250,544 (GRCm39) |
T51S |
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,050,663 (GRCm39) |
V640E |
probably damaging |
Het |
Tnfsf8 |
G |
T |
4: 63,752,683 (GRCm39) |
H127Q |
possibly damaging |
Het |
Tomm20 |
A |
G |
8: 127,666,633 (GRCm39) |
L80S |
probably damaging |
Het |
Top2a |
T |
C |
11: 98,884,640 (GRCm39) |
D1526G |
probably benign |
Het |
Trmt1l |
T |
C |
1: 151,316,639 (GRCm39) |
V200A |
possibly damaging |
Het |
Trpa1 |
A |
G |
1: 14,982,625 (GRCm39) |
V77A |
possibly damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,239,615 (GRCm39) |
V316D |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
Zfp2 |
T |
C |
11: 50,791,605 (GRCm39) |
H146R |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,781,252 (GRCm39) |
S367P |
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 |
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'- GGCCTCATCATGACTTGAGC -3'
(R):5'- AGCCAGAATGTTCCTGGTATGG -3'
Sequencing Primer
(F):5'- GCCTCATCATGACTTGAGCACTATG -3'
(R):5'- TAGATAGATAGAATCTCTGTCCCCAC -3'
|
Posted On |
2019-11-26 |