Incidental Mutation 'R4184:Cpne9'
| ID |
319862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| MMRRC Submission |
041020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R4184 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 113259418 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 |
probably benign
Transcript: ENSMUST00000130191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137772
|
| SMART Domains |
Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
10 |
231 |
5.7e-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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (55/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
| Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
| Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
| Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,125,911 (GRCm39) |
E628G |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
| Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
| Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
| Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
| Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
| Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTTTCCCCGACTAGCTC -3'
(R):5'- CATAGCCCACCTTTTGAGCC -3'
Sequencing Primer
(F):5'- TCCAGGCTGCTCCAATGG -3'
(R):5'- AGTGACTCCAGCCTTCAGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation