Incidental Mutation 'R3619:Ccdc82'
| ID |
268564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc82
|
| Ensembl Gene |
ENSMUSG00000079084 |
| Gene Name |
coiled-coil domain containing 82 |
| Synonyms |
2310043N13Rik |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
13246573-13292867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13251931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 74
(D74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110583]
[ENSMUST00000216578]
[ENSMUST00000217444]
|
| AlphaFold |
Q6PG04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110583
AA Change: D74E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: D74E
| 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
AA Change: D74E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217444
AA Change: D74E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
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 |
|
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'- TGGTACATGTTAGAAGACACGAAAC -3'
(R):5'- TGTGATGATTCTCTGCTTGACC -3'
Sequencing Primer
(F):5'- AAATTCTAAAACCCAAAAACCTGAAC -3'
(R):5'- TGACCAGGGTGAGCTTCATCATC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation