Incidental Mutation 'R3854:Ccdc87'
| ID |
276086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc87
|
| Ensembl Gene |
ENSMUSG00000067872 |
| Gene Name |
coiled-coil domain containing 87 |
| Synonyms |
4931419P11Rik |
| MMRRC Submission |
041605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R3854 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4889394-4892556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4889546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 13
(I13V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037246]
[ENSMUST00000088653]
|
| AlphaFold |
Q8CDL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037246
|
| SMART Domains |
Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMA
|
15 |
72 |
2.4e-12 |
PFAM |
|
Pfam:Sod_Cu
|
93 |
230 |
6.7e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088653
AA Change: I13V
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: I13V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
Pfam:MAP65_ASE1
|
669 |
855 |
2.1e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
C |
2: 58,352,946 (GRCm39) |
K338R |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,565 (GRCm39) |
P482L |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,156,776 (GRCm39) |
D154G |
probably benign |
Het |
| Apoa1 |
A |
G |
9: 46,141,521 (GRCm39) |
S206G |
probably benign |
Het |
| Aspdh |
T |
C |
7: 44,115,613 (GRCm39) |
V5A |
possibly damaging |
Het |
| Bend3 |
AAGGACCA |
AA |
10: 43,386,713 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,103,808 (GRCm39) |
|
probably null |
Het |
| Cd163 |
A |
T |
6: 124,288,525 (GRCm39) |
N319Y |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,238,227 (GRCm39) |
S66G |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,789 (GRCm39) |
C441R |
probably damaging |
Het |
| Clstn2 |
G |
A |
9: 97,345,648 (GRCm39) |
Q567* |
probably null |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,765,624 (GRCm39) |
N1093S |
probably benign |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,699,905 (GRCm39) |
A1744T |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbll1 |
T |
A |
11: 35,688,526 (GRCm39) |
T246S |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,243,353 (GRCm39) |
T910S |
probably damaging |
Het |
| Fcna |
C |
T |
2: 25,517,784 (GRCm39) |
G22D |
possibly damaging |
Het |
| Gadl1 |
G |
T |
9: 115,835,732 (GRCm39) |
E387* |
probably null |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Lbr |
G |
A |
1: 181,659,280 (GRCm39) |
T167I |
probably benign |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,308,081 (GRCm39) |
H420R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or10z1 |
T |
A |
1: 174,077,716 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,161,105 (GRCm39) |
K297* |
probably null |
Het |
| Or51r1 |
T |
G |
7: 102,228,227 (GRCm39) |
L175R |
probably damaging |
Het |
| Pgap3 |
T |
C |
11: 98,281,638 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,653,003 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,752,240 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,137 (GRCm39) |
I188V |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,328,190 (GRCm39) |
I634F |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,917,596 (GRCm39) |
C485S |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,058 (GRCm39) |
M33L |
probably benign |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
|
| Other mutations in Ccdc87 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02321:Ccdc87
|
APN |
19 |
4,891,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Ccdc87
|
APN |
19 |
4,889,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Ccdc87
|
APN |
19 |
4,891,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03151:Ccdc87
|
APN |
19 |
4,891,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1572:Ccdc87
|
UTSW |
19 |
4,890,341 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2031:Ccdc87
|
UTSW |
19 |
4,891,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Ccdc87
|
UTSW |
19 |
4,890,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3734:Ccdc87
|
UTSW |
19 |
4,891,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Ccdc87
|
UTSW |
19 |
4,891,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Ccdc87
|
UTSW |
19 |
4,890,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Ccdc87
|
UTSW |
19 |
4,890,429 (GRCm39) |
splice site |
probably null |
|
|
R5634:Ccdc87
|
UTSW |
19 |
4,890,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5659:Ccdc87
|
UTSW |
19 |
4,890,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6065:Ccdc87
|
UTSW |
19 |
4,891,268 (GRCm39) |
missense |
probably benign |
|
|
R6237:Ccdc87
|
UTSW |
19 |
4,891,407 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6337:Ccdc87
|
UTSW |
19 |
4,889,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6349:Ccdc87
|
UTSW |
19 |
4,891,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Ccdc87
|
UTSW |
19 |
4,891,263 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6520:Ccdc87
|
UTSW |
19 |
4,891,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7131:Ccdc87
|
UTSW |
19 |
4,891,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Ccdc87
|
UTSW |
19 |
4,889,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7349:Ccdc87
|
UTSW |
19 |
4,891,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7848:Ccdc87
|
UTSW |
19 |
4,891,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8382:Ccdc87
|
UTSW |
19 |
4,890,018 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8421:Ccdc87
|
UTSW |
19 |
4,891,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8560:Ccdc87
|
UTSW |
19 |
4,891,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Ccdc87
|
UTSW |
19 |
4,891,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9457:Ccdc87
|
UTSW |
19 |
4,891,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Ccdc87
|
UTSW |
19 |
4,891,299 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9803:Ccdc87
|
UTSW |
19 |
4,891,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ccdc87
|
UTSW |
19 |
4,890,750 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Ccdc87
|
UTSW |
19 |
4,891,951 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTCTACTTTGTGGGATGGG -3'
(R):5'- TCCTTGGCAGTTACTCGTGC -3'
Sequencing Primer
(F):5'- ATGGGCGGAGTCTCGGAG -3'
(R):5'- AGTTACTCGTGCCGCCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation