Incidental Mutation 'R1726:Ccdc80'
| ID |
198177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
039758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44916368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 375
(T375S)
|
| 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: T375S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: T375S
| 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: T375S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: T375S
| 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
|
| Meta Mutation Damage Score |
0.0642 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (63/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
| Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
| Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
| Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
| Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
| Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
| Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
| Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,587,847 (GRCm39) |
R214L |
probably damaging |
Het |
| Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,413,977 (GRCm39) |
P368S |
possibly damaging |
Het |
| Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
| Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,647 (GRCm39) |
Y584* |
probably null |
Het |
| Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
| Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,349,322 (GRCm39) |
I40M |
probably damaging |
Het |
| Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
| Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
| Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Tlr11 |
A |
T |
14: 50,598,998 (GRCm39) |
H328L |
probably benign |
Het |
| Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
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 |
|
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 |
|
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'- CCATCCGCAGGATCGAGAAAATCAG -3'
(R):5'- TCTGTTGCTCCTTCCGAGGTAGAG -3'
Sequencing Primer
(F):5'- CATAGAGGGCCATGTAGTCCAG -3'
(R):5'- AGGGTATAGCTGCTCTGAGAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation