Incidental Mutation 'R9263:Ccdc80'
| ID |
702393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc80
|
| Ensembl Gene |
ENSMUSG00000022665 |
| Gene Name |
coiled-coil domain containing 80 |
| Synonyms |
DRO1, Urb, Ssg1, 2610001E17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44913770-44948287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44915949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 235
(M235K)
|
| 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: M235K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: M235K
| 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: M235K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: M235K
| 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: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c14 |
T |
C |
13: 4,113,620 (GRCm39) |
S51P |
probably damaging |
Het |
| Arhgef38 |
T |
G |
3: 132,866,529 (GRCm39) |
K203Q |
|
Het |
| Cacna1d |
G |
A |
14: 29,796,925 (GRCm39) |
R1517W |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,149 (GRCm39) |
S1414P |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,602,891 (GRCm39) |
D395G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,358,945 (GRCm39) |
E255G |
probably benign |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Dnajb7 |
G |
A |
15: 81,292,266 (GRCm39) |
R24C |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,947,505 (GRCm39) |
W225L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,223 (GRCm39) |
V590D |
probably benign |
Het |
| Epcam |
A |
G |
17: 87,947,960 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,257,344 (GRCm39) |
Y341C |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,322,728 (GRCm39) |
L1040R |
probably damaging |
Het |
| Gm9639 |
C |
T |
10: 77,630,828 (GRCm39) |
C28Y |
unknown |
Het |
| Hsd17b7 |
A |
G |
1: 169,794,833 (GRCm39) |
S69P |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,469,867 (GRCm39) |
D1445E |
probably damaging |
Het |
| Kmt2d |
TGCTGCTGCTGCTGCTGCTGG |
TG |
15: 98,747,499 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,654,190 (GRCm39) |
Y1079C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,457,467 (GRCm39) |
D779G |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Pacsin1 |
A |
G |
17: 27,923,924 (GRCm39) |
D106G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,732,790 (GRCm39) |
D682E |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,023,231 (GRCm39) |
D269G |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,078,327 (GRCm39) |
V474E |
|
Het |
| Rdh16 |
A |
G |
10: 127,649,306 (GRCm39) |
D254G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,418,675 (GRCm39) |
D812E |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,160 (GRCm39) |
S651P |
probably benign |
Het |
| Sec16b |
G |
A |
1: 157,359,748 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
C |
T |
7: 126,872,122 (GRCm39) |
G324S |
probably damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,481,992 (GRCm39) |
D112G |
probably damaging |
Het |
| Slc25a47 |
C |
G |
12: 108,820,215 (GRCm39) |
T73S |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,799,509 (GRCm39) |
L109H |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,470,848 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,904,087 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,035,931 (GRCm39) |
I252T |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,934,415 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,611,521 (GRCm39) |
A170S |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,985,481 (GRCm39) |
N6D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,720,868 (GRCm39) |
T6852I |
unknown |
Het |
| Tufm |
A |
G |
7: 126,088,100 (GRCm39) |
E201G |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,099,493 (GRCm39) |
P236Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,289 (GRCm39) |
Y2510C |
possibly 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 |
|
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 |
|
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'- AGGGTATGGGTCATCTCAGC -3'
(R):5'- GACTACATGGCCCTCTATGC -3'
Sequencing Primer
(F):5'- CTCATGATGAGCCTCCTGAAG -3'
(R):5'- CCCGAGGCCTTACACTTTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation