Incidental Mutation 'R6065:Ccdc87'
| ID |
484026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc87
|
| Ensembl Gene |
ENSMUSG00000067872 |
| Gene Name |
coiled-coil domain containing 87 |
| Synonyms |
4931419P11Rik |
| MMRRC Submission |
044229-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4889394-4892556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4891268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 587
(M587L)
|
| 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: M587L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: M587L
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
T |
C |
5: 103,990,118 (GRCm39) |
S871P |
probably damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,302,758 (GRCm39) |
I126T |
possibly damaging |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,628 (GRCm39) |
D2638G |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,230,614 (GRCm39) |
I171F |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,164 (GRCm39) |
D3983G |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,036,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,246 (GRCm39) |
D18V |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,969,922 (GRCm39) |
C106G |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,786,957 (GRCm39) |
L704Q |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,815,257 (GRCm39) |
M88T |
probably damaging |
Het |
| Gm3453 |
T |
C |
14: 5,978,233 (GRCm38) |
T57A |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,579,771 (GRCm39) |
D164G |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,646,081 (GRCm39) |
V706I |
probably benign |
Het |
| Kcnj12 |
C |
T |
11: 60,960,703 (GRCm39) |
L334F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,602,985 (GRCm39) |
Y1057H |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,399,013 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,840,647 (GRCm39) |
L2382P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,405,370 (GRCm39) |
N680I |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,121,528 (GRCm39) |
H770R |
probably benign |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,729 (GRCm39) |
T377A |
possibly damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,529 (GRCm39) |
K109E |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,351,166 (GRCm39) |
T553I |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,709 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,349,615 (GRCm39) |
M1T |
probably null |
Het |
| Sec13 |
G |
T |
6: 113,707,793 (GRCm39) |
P176T |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc4a7 |
C |
A |
14: 14,739,836 (GRCm38) |
T236K |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,675,295 (GRCm39) |
N382S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,416 (GRCm39) |
M345T |
possibly damaging |
Het |
| Ubr4 |
T |
G |
4: 139,148,549 (GRCm39) |
C1678G |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,600,220 (GRCm39) |
S188P |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,379,056 (GRCm39) |
N233S |
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 |
|
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 |
|
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'- AGACCAAATTGAGCCTTCAGC -3'
(R):5'- TCTTCATCTTGCAGCAGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation