Incidental Mutation 'IGL02800:Cpne9'
| ID |
360146 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
IGL02800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113279034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 476
(D476G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000130191]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041203
AA Change: D476G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: D476G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
14 |
122 |
2.12e-10 |
SMART |
|
C2
|
143 |
257 |
5.15e-9 |
SMART |
|
VWA
|
297 |
495 |
4.4e-10 |
SMART |
|
low complexity region
|
536 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203569
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
| Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,333 (GRCm39) |
L306F |
probably benign |
Het |
| Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
| Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
| Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
| Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
| Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pgm3 |
T |
C |
9: 86,437,431 (GRCm39) |
E481G |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
| Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
| Rcbtb2 |
T |
A |
14: 73,405,543 (GRCm39) |
Y299* |
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
| Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
| Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
| Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
| Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
| Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
| Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
| Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
| Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,111,980 (GRCm39) |
S88G |
probably benign |
Het |
|
| Other mutations in Cpne9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Cpne9
|
APN |
6 |
113,269,983 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02318:Cpne9
|
APN |
6 |
113,270,699 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02819:Cpne9
|
APN |
6 |
113,277,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03111:Cpne9
|
APN |
6 |
113,277,571 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
measured
|
UTSW |
6 |
113,266,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
prudence
|
UTSW |
6 |
113,261,406 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
PIT4366001:Cpne9
|
UTSW |
6 |
113,271,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Cpne9
|
UTSW |
6 |
113,277,562 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0319:Cpne9
|
UTSW |
6 |
113,271,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Cpne9
|
UTSW |
6 |
113,266,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0586:Cpne9
|
UTSW |
6 |
113,272,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0594:Cpne9
|
UTSW |
6 |
113,267,361 (GRCm39) |
splice site |
probably benign |
|
|
R1464:Cpne9
|
UTSW |
6 |
113,271,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Cpne9
|
UTSW |
6 |
113,271,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Cpne9
|
UTSW |
6 |
113,259,418 (GRCm39) |
unclassified |
probably benign |
|
|
R4243:Cpne9
|
UTSW |
6 |
113,259,984 (GRCm39) |
unclassified |
probably benign |
|
|
R4256:Cpne9
|
UTSW |
6 |
113,259,984 (GRCm39) |
unclassified |
probably benign |
|
|
R4258:Cpne9
|
UTSW |
6 |
113,259,984 (GRCm39) |
unclassified |
probably benign |
|
|
R4412:Cpne9
|
UTSW |
6 |
113,266,962 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4690:Cpne9
|
UTSW |
6 |
113,279,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Cpne9
|
UTSW |
6 |
113,281,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5249:Cpne9
|
UTSW |
6 |
113,270,034 (GRCm39) |
splice site |
probably benign |
|
|
R5437:Cpne9
|
UTSW |
6 |
113,281,591 (GRCm39) |
unclassified |
probably benign |
|
|
R5523:Cpne9
|
UTSW |
6 |
113,267,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Cpne9
|
UTSW |
6 |
113,270,710 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6207:Cpne9
|
UTSW |
6 |
113,271,734 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6849:Cpne9
|
UTSW |
6 |
113,279,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6989:Cpne9
|
UTSW |
6 |
113,277,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7376:Cpne9
|
UTSW |
6 |
113,266,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7524:Cpne9
|
UTSW |
6 |
113,279,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Cpne9
|
UTSW |
6 |
113,279,079 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7689:Cpne9
|
UTSW |
6 |
113,266,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Cpne9
|
UTSW |
6 |
113,261,406 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8134:Cpne9
|
UTSW |
6 |
113,272,003 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8418:Cpne9
|
UTSW |
6 |
113,260,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8810:Cpne9
|
UTSW |
6 |
113,281,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8833:Cpne9
|
UTSW |
6 |
113,281,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9174:Cpne9
|
UTSW |
6 |
113,279,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9503:Cpne9
|
UTSW |
6 |
113,271,732 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9520:Cpne9
|
UTSW |
6 |
113,281,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9738:Cpne9
|
UTSW |
6 |
113,267,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation