Incidental Mutation 'R4643:Ccdc87'
ID |
351750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc87
|
Ensembl Gene |
ENSMUSG00000067872 |
Gene Name |
coiled-coil domain containing 87 |
Synonyms |
4931419P11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4643 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4889394-4892556 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4891877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 790
(G790R)
|
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: G790R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086028 Gene: ENSMUSG00000067872 AA Change: G790R
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
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 |
R3854:Ccdc87
|
UTSW |
19 |
4,889,546 (GRCm39) |
missense |
probably benign |
0.36 |
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'- TCAAAAGAGGGAGTCGTTGC -3'
(R):5'- TTGGCCGCCTTAGTGAGTAG -3'
Sequencing Primer
(F):5'- AGTCGTTGCTAGGAAGACTGG -3'
(R):5'- TATTCCCGGGGGCCACTAAC -3'
|
Posted On |
2015-10-08 |