Incidental Mutation 'R1276:Ccdc82'
| ID |
150893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc82
|
| Ensembl Gene |
ENSMUSG00000079084 |
| Gene Name |
coiled-coil domain containing 82 |
| Synonyms |
2310043N13Rik |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13246573-13292867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13281903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 443
(I443F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110583]
[ENSMUST00000217444]
|
| AlphaFold |
Q6PG04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110583
AA Change: I443F
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: I443F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
70 |
N/A |
INTRINSIC |
|
Pfam:DUF4196
|
98 |
211 |
1.8e-50 |
PFAM |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
Pfam:DUF4211
|
273 |
432 |
1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217444
AA Change: I443F
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
probably damaging |
Het |
|
| Other mutations in Ccdc82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Nervosa
|
UTSW |
9 |
13,289,706 (GRCm39) |
nonsense |
probably null |
|
|
R1580:Ccdc82
|
UTSW |
9 |
13,252,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Ccdc82
|
UTSW |
9 |
13,262,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3619:Ccdc82
|
UTSW |
9 |
13,251,931 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3858:Ccdc82
|
UTSW |
9 |
13,251,704 (GRCm39) |
start gained |
probably benign |
|
|
R3963:Ccdc82
|
UTSW |
9 |
13,252,011 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4287:Ccdc82
|
UTSW |
9 |
13,253,043 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4674:Ccdc82
|
UTSW |
9 |
13,252,260 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5591:Ccdc82
|
UTSW |
9 |
13,272,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6122:Ccdc82
|
UTSW |
9 |
13,266,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6175:Ccdc82
|
UTSW |
9 |
13,272,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Ccdc82
|
UTSW |
9 |
13,251,659 (GRCm39) |
intron |
probably benign |
|
|
R6457:Ccdc82
|
UTSW |
9 |
13,272,745 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6825:Ccdc82
|
UTSW |
9 |
13,251,601 (GRCm39) |
intron |
probably benign |
|
|
R7191:Ccdc82
|
UTSW |
9 |
13,252,097 (GRCm39) |
nonsense |
probably null |
|
|
R8716:Ccdc82
|
UTSW |
9 |
13,252,922 (GRCm39) |
nonsense |
probably null |
|
|
R8850:Ccdc82
|
UTSW |
9 |
13,289,706 (GRCm39) |
nonsense |
probably null |
|
|
R9020:Ccdc82
|
UTSW |
9 |
13,281,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Ccdc82
|
UTSW |
9 |
13,281,891 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCACTATGACTCTAGCCACAAGC -3'
(R):5'- TCAGGGCATCTATTCAGAAGAGAGCAG -3'
Sequencing Primer
(F):5'- CCCAATACTGGAAGCATAGTGG -3'
(R):5'- TGCAGAACAAGGCAGTCTAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation