Incidental Mutation 'R3734:Ccdc87'
ID |
270022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc87
|
Ensembl Gene |
ENSMUSG00000067872 |
Gene Name |
coiled-coil domain containing 87 |
Synonyms |
4931419P11Rik |
MMRRC Submission |
040721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3734 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4889394-4892556 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4891951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Cysteine
at position 814
(W814C)
|
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 damaging
Transcript: ENSMUST00000088653
AA Change: W814C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086028 Gene: ENSMUSG00000067872 AA Change: W814C
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 |
0.6584 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
R3854:Ccdc87
|
UTSW |
19 |
4,889,546 (GRCm39) |
missense |
probably benign |
0.36 |
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'- CAAGCCTCTGATCCCAATCG -3'
(R):5'- GTCATTGAGAGTTCTACGTGAGC -3'
Sequencing Primer
(F):5'- GATCCCAATCGTTTCTTCCAAAAG -3'
(R):5'- CATTGAGAGTTCTACGTGAGCATTTG -3'
|
Posted On |
2015-03-18 |