Incidental Mutation 'R3858:Ccdc82'
| ID |
276253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc82
|
| Ensembl Gene |
ENSMUSG00000079084 |
| Gene Name |
coiled-coil domain containing 82 |
| Synonyms |
2310043N13Rik |
| MMRRC Submission |
040786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13246573-13292867 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 13251704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110583]
[ENSMUST00000216578]
[ENSMUST00000217444]
|
| AlphaFold |
Q6PG04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110583
|
| SMART Domains |
Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
| 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: ENSMUST00000169961
|
| SMART Domains |
Protein: ENSMUSP00000126058
Gene: ENSMUSG00000079084
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
70 |
N/A |
INTRINSIC |
|
Pfam:DUF4196
|
98 |
211 |
2.2e-55 |
PFAM |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217444
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,863,581 (GRCm39) |
S179T |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Cd2ap |
G |
A |
17: 43,127,463 (GRCm39) |
Q377* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,808 (GRCm39) |
L167S |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irs4 |
T |
C |
X: 140,507,059 (GRCm39) |
E379G |
probably damaging |
Het |
| Kcnmb2 |
T |
C |
3: 32,252,450 (GRCm39) |
V217A |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,408,907 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,798,409 (GRCm39) |
C757S |
possibly damaging |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,648,117 (GRCm39) |
L2* |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Pirb |
T |
C |
7: 3,720,662 (GRCm39) |
K279E |
possibly damaging |
Het |
| Pmp22 |
T |
C |
11: 63,025,301 (GRCm39) |
S45P |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,930,261 (GRCm39) |
T612A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,835,985 (GRCm39) |
I868T |
probably damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tor3a |
T |
A |
1: 156,497,124 (GRCm39) |
L140F |
probably damaging |
Het |
| Vcf2 |
T |
C |
X: 149,203,357 (GRCm39) |
Q39R |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,594 (GRCm39) |
M57T |
probably benign |
Het |
| Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
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 |
|
|
R1276:Ccdc82
|
UTSW |
9 |
13,281,903 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- ACCAGTTTTGTGTGCACCAC -3'
(R):5'- ATGCTCTTCATCGCTGTCAAG -3'
Sequencing Primer
(F):5'- GTGCACCACACTAACTTGTCTG -3'
(R):5'- ATCGCTGTCAAGTTCCTCATTAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation