Incidental Mutation 'R4258:Cpne9'
| ID |
321897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| MMRRC Submission |
041071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R4258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 113259984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000113146]
[ENSMUST00000129883]
[ENSMUST00000130191]
[ENSMUST00000134945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041203
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
| 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: ENSMUST00000113146
|
| SMART Domains |
Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Blast:C2
|
605 |
647 |
2e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129883
|
| SMART Domains |
Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130191
AA Change: P44L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148523
|
| SMART Domains |
Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
1 |
102 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151149
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134945
|
| SMART Domains |
Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:C2
|
221 |
256 |
3e-10 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (60/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
T |
A |
17: 54,031,441 (GRCm39) |
|
noncoding transcript |
Het |
| Ank3 |
T |
C |
10: 69,840,592 (GRCm39) |
I984T |
probably benign |
Het |
| Arnt2 |
T |
C |
7: 83,960,163 (GRCm39) |
T204A |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Aspg |
A |
T |
12: 112,087,687 (GRCm39) |
N346I |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,775 (GRCm39) |
S668G |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,150,392 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,937,923 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
A |
17: 56,363,474 (GRCm39) |
H319Q |
unknown |
Het |
| Colec12 |
T |
C |
18: 9,720,950 (GRCm39) |
S13P |
probably damaging |
Het |
| Cyp2c65 |
A |
C |
19: 39,081,872 (GRCm39) |
D466A |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,248 (GRCm39) |
K266E |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,990,678 (GRCm39) |
R214L |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,818,854 (GRCm39) |
I1533V |
probably benign |
Het |
| Dynlt1a |
C |
T |
17: 6,361,184 (GRCm39) |
M102I |
probably benign |
Het |
| Edil3 |
G |
T |
13: 89,325,272 (GRCm39) |
L220F |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,831,693 (GRCm39) |
Y383H |
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,130 (GRCm39) |
T393S |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,041,076 (GRCm39) |
D164V |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,284,841 (GRCm39) |
N16I |
probably damaging |
Het |
| Gdf6 |
G |
A |
4: 9,844,877 (GRCm39) |
V134I |
probably damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,117 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
G |
1: 96,952,561 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv9-4 |
A |
T |
12: 114,263,765 (GRCm39) |
V56E |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,347,961 (GRCm38) |
N36Y |
probably damaging |
Het |
| Kif7 |
G |
T |
7: 79,360,261 (GRCm39) |
C325* |
probably null |
Het |
| Lipo2 |
A |
T |
19: 33,708,328 (GRCm39) |
F229I |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,352,656 (GRCm39) |
K1935E |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,017 (GRCm39) |
D2672E |
possibly damaging |
Het |
| Mtf1 |
A |
G |
4: 124,732,576 (GRCm39) |
T545A |
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,004,812 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,409 (GRCm39) |
V1672A |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,020,767 (GRCm39) |
I165V |
probably damaging |
Het |
| Or10al6 |
C |
A |
17: 38,082,949 (GRCm39) |
P135Q |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,205 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or4k36 |
A |
T |
2: 111,145,983 (GRCm39) |
H53L |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,923,362 (GRCm39) |
N306I |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,825,102 (GRCm39) |
I698F |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,978,572 (GRCm39) |
H665Y |
probably damaging |
Het |
| Ppil6 |
T |
A |
10: 41,383,531 (GRCm39) |
L99* |
probably null |
Het |
| Psg22 |
T |
A |
7: 18,458,554 (GRCm39) |
V376E |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,439,433 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
T |
A |
3: 68,525,963 (GRCm39) |
M379K |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,395,398 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,864,322 (GRCm39) |
A622T |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,156,076 (GRCm39) |
I292N |
probably damaging |
Het |
| Ssxb17 |
C |
T |
X: 21,041,167 (GRCm39) |
S45N |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,876,629 (GRCm39) |
R862C |
possibly damaging |
Het |
| Tdrd5 |
T |
A |
1: 156,087,312 (GRCm39) |
H870L |
probably benign |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,443 (GRCm39) |
R60G |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,880,254 (GRCm39) |
R25Q |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,601,150 (GRCm39) |
Y892C |
probably damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,042,118 (GRCm39) |
D199A |
probably damaging |
Het |
| Washc2 |
C |
A |
6: 116,185,202 (GRCm39) |
P12Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,896 (GRCm39) |
I121V |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,267 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATATAGAGCCATTTGTCAG -3'
(R):5'- GTCAATCACCTCGGTTCGTC -3'
Sequencing Primer
(F):5'- AGAGCCATTTGTCAGAGATGTC -3'
(R):5'- TCTGCGTGTGAAGCACCAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation