Incidental Mutation 'R9738:Cpne9'
| ID |
731722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R9738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113267401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 194
(N194T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000130191]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041203
AA Change: N194T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: N194T
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
A |
G |
12: 70,216,039 (GRCm39) |
T199A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,737,121 (GRCm39) |
F2921S |
unknown |
Het |
| Atg12 |
A |
G |
18: 46,874,505 (GRCm39) |
S37P |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,863,329 (GRCm39) |
D413G |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,236,539 (GRCm39) |
N318S |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,590,665 (GRCm39) |
L68* |
probably null |
Het |
| Cntnap2 |
CCACATAAACAACACACA |
CCACA |
6: 45,992,373 (GRCm39) |
|
probably null |
Het |
| Cpxm1 |
A |
G |
2: 130,235,302 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
C |
8: 70,840,205 (GRCm39) |
N556S |
probably damaging |
Het |
| Gm12888 |
A |
T |
4: 121,175,520 (GRCm39) |
C87* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,019,583 (GRCm39) |
E2118G |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,155,270 (GRCm39) |
N270D |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,671,672 (GRCm39) |
Q77* |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,350,649 (GRCm39) |
W887R |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,527 (GRCm39) |
Y706H |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,222,524 (GRCm39) |
F170I |
probably damaging |
Het |
| Msrb1 |
T |
C |
17: 24,958,535 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,759 (GRCm39) |
I1096V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,148,238 (GRCm39) |
H41R |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,869 (GRCm39) |
T92A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,526 (GRCm39) |
T603A |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,505,256 (GRCm39) |
H74Q |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,986,380 (GRCm39) |
T243A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,390 (GRCm39) |
E358G |
possibly damaging |
Het |
| Unc5d |
T |
A |
8: 29,214,332 (GRCm39) |
H410L |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,819,672 (GRCm39) |
V378A |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,604 (GRCm39) |
S581P |
probably damaging |
Het |
| Zfp947 |
A |
G |
17: 22,365,341 (GRCm39) |
V111A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGGGAAGTCAGACCCTTTC -3'
(R):5'- TCCCTGATTGGCTATGAGGC -3'
Sequencing Primer
(F):5'- CCTTGTGTTCTACAGGAGCAATGAAG -3'
(R):5'- GGCAGACCTGTCACTCATGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation