Incidental Mutation 'IGL03111:Cpne9'
| ID |
419207 |
| 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 # |
IGL03111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113277571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 430
(I430T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000130191]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041203
AA Change: I430T
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: I430T
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,040 (GRCm39) |
D523G |
probably benign |
Het |
| Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
| Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
| Ldhd |
A |
C |
8: 112,353,797 (GRCm39) |
C439G |
probably damaging |
Het |
| Lipo3 |
C |
T |
19: 33,559,637 (GRCm39) |
V78I |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
| Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
| Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
| Or51g2 |
G |
A |
7: 102,622,738 (GRCm39) |
R154C |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
| Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
| Zfp946 |
A |
G |
17: 22,673,537 (GRCm39) |
H97R |
possibly damaging |
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 |
|
IGL02800:Cpne9
|
APN |
6 |
113,279,034 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02819:Cpne9
|
APN |
6 |
113,277,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2016-08-02 |
Incidental Mutation