Incidental Mutation 'R4412:Cpne9'
ID |
327962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne9
|
Ensembl Gene |
ENSMUSG00000030270 |
Gene Name |
copine family member IX |
Synonyms |
A730016F12Rik |
MMRRC Submission |
041135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R4412 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113266962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 132
(K132E)
|
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: K132E
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044416 Gene: ENSMUSG00000030270 AA Change: K132E
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: ENSMUST00000204050
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,449,302 (GRCm39) |
|
probably benign |
Het |
Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
Alpl |
A |
G |
4: 137,485,939 (GRCm39) |
I2T |
possibly damaging |
Het |
Chdh |
G |
T |
14: 29,753,672 (GRCm39) |
G194C |
probably damaging |
Het |
Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
Cyp2b9 |
T |
G |
7: 25,897,868 (GRCm39) |
L224R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 49,981,828 (GRCm39) |
N153S |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,964,509 (GRCm39) |
Y2423C |
probably damaging |
Het |
Dnajc14 |
G |
T |
10: 128,642,074 (GRCm39) |
|
probably benign |
Het |
Eipr1 |
A |
T |
12: 28,909,372 (GRCm39) |
D213V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,476,636 (GRCm39) |
V1894A |
probably damaging |
Het |
Flrt2 |
G |
A |
12: 95,747,047 (GRCm39) |
V462I |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
Glis1 |
A |
G |
4: 107,491,915 (GRCm39) |
H593R |
probably damaging |
Het |
Gpr21 |
C |
G |
2: 37,407,444 (GRCm39) |
|
probably benign |
Het |
Gsdmc3 |
A |
G |
15: 63,738,645 (GRCm39) |
M139T |
probably benign |
Het |
Hydin |
C |
T |
8: 111,142,368 (GRCm39) |
T749I |
probably damaging |
Het |
Ilf3 |
C |
T |
9: 21,310,856 (GRCm39) |
P620S |
possibly damaging |
Het |
Khdc3 |
A |
G |
9: 73,010,156 (GRCm39) |
T71A |
possibly damaging |
Het |
Ms4a12 |
T |
C |
19: 11,207,807 (GRCm39) |
N33S |
probably benign |
Het |
Nisch |
A |
G |
14: 30,908,615 (GRCm39) |
|
probably benign |
Het |
Npr2 |
G |
A |
4: 43,644,150 (GRCm39) |
C593Y |
probably damaging |
Het |
Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
Or4c1 |
A |
G |
2: 89,133,684 (GRCm39) |
I84T |
probably benign |
Het |
Palld |
A |
G |
8: 62,140,406 (GRCm39) |
Y534H |
probably damaging |
Het |
Pcdhb10 |
TC |
T |
18: 37,547,194 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
Podnl1 |
A |
T |
8: 84,857,294 (GRCm39) |
H301L |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,124,511 (GRCm39) |
V399A |
probably benign |
Het |
Rpp30 |
T |
A |
19: 36,077,655 (GRCm39) |
N172K |
possibly damaging |
Het |
Sin3b |
C |
T |
8: 73,466,407 (GRCm39) |
A291V |
probably benign |
Het |
Slc12a6 |
A |
T |
2: 112,166,233 (GRCm39) |
Q204L |
possibly damaging |
Het |
Snx9 |
C |
T |
17: 5,958,669 (GRCm39) |
T249M |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,152,834 (GRCm39) |
H6674Q |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,364,073 (GRCm39) |
|
probably null |
Het |
Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
Yme1l1 |
G |
A |
2: 23,065,199 (GRCm39) |
R236H |
probably 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTTTCTCACCAAGAGCC -3'
(R):5'- AGGAAAGGGTCTGACTTCCC -3'
Sequencing Primer
(F):5'- GCCTCTCCGAATAGAAGTGG -3'
(R):5'- TTTGCACACAGCTGCATGG -3'
|
Posted On |
2015-07-07 |