Incidental Mutation 'R5062:Cpne9'
ID |
386680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne9
|
Ensembl Gene |
ENSMUSG00000030270 |
Gene Name |
copine family member IX |
Synonyms |
A730016F12Rik |
MMRRC Submission |
042652-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R5062 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113281449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 510
(M510K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000130191]
[ENSMUST00000203577]
[ENSMUST00000204198]
[ENSMUST00000204626]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041203
AA Change: M510K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044416 Gene: ENSMUSG00000030270 AA Change: M510K
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: ENSMUST00000113117
|
SMART Domains |
Protein: ENSMUSP00000108742 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
105 |
254 |
1e-35 |
PFAM |
PHD
|
274 |
320 |
7.63e-10 |
SMART |
PHD
|
384 |
447 |
1.05e-7 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1078 |
1090 |
N/A |
INTRINSIC |
PWWP
|
1115 |
1198 |
4.1e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113119
|
SMART Domains |
Protein: ENSMUSP00000108744 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
106 |
254 |
8.5e-39 |
PFAM |
PHD
|
274 |
320 |
7.63e-10 |
SMART |
PHD
|
384 |
447 |
1.05e-7 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
PWWP
|
1116 |
1199 |
4.1e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113121
|
SMART Domains |
Protein: ENSMUSP00000108746 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
PHD
|
274 |
320 |
7.63e-10 |
SMART |
PHD
|
384 |
447 |
1.05e-7 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
PWWP
|
1082 |
1165 |
4.1e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113122
|
SMART Domains |
Protein: ENSMUSP00000108747 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
PHD
|
274 |
320 |
7.63e-10 |
SMART |
PHD
|
384 |
447 |
1.05e-7 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
PWWP
|
1081 |
1164 |
4.1e-42 |
SMART |
|
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: ENSMUST00000156734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203577
|
SMART Domains |
Protein: ENSMUSP00000144820 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
106 |
254 |
5.1e-36 |
PFAM |
PHD
|
274 |
320 |
4.9e-12 |
SMART |
PHD
|
384 |
447 |
6.8e-10 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1096 |
N/A |
INTRINSIC |
PWWP
|
1121 |
1204 |
2.6e-44 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204198
|
SMART Domains |
Protein: ENSMUSP00000144804 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
106 |
254 |
4.4e-36 |
PFAM |
PHD
|
274 |
320 |
4.9e-12 |
SMART |
PHD
|
384 |
447 |
6.8e-10 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
733 |
1e-39 |
SMART |
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
low complexity region
|
899 |
925 |
N/A |
INTRINSIC |
PWWP
|
987 |
1070 |
2.6e-44 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203569
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204626
|
SMART Domains |
Protein: ENSMUSP00000145093 Gene: ENSMUSG00000001632
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
Pfam:EPL1
|
106 |
254 |
4.9e-36 |
PFAM |
PHD
|
274 |
320 |
4.9e-12 |
SMART |
PHD
|
384 |
447 |
6.8e-10 |
SMART |
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
PWWP
|
1087 |
1170 |
2.6e-44 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,067,892 (GRCm39) |
I1593N |
probably benign |
Het |
Akr1b10 |
G |
T |
6: 34,369,041 (GRCm39) |
K173N |
probably damaging |
Het |
Artn |
A |
T |
4: 117,784,873 (GRCm39) |
L3Q |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,655,775 (GRCm39) |
S1262T |
possibly damaging |
Het |
Atp6v0a4 |
A |
T |
6: 38,051,118 (GRCm39) |
M420K |
probably benign |
Het |
Bcam |
T |
A |
7: 19,494,026 (GRCm39) |
T422S |
possibly damaging |
Het |
Casp2 |
C |
T |
6: 42,246,206 (GRCm39) |
|
probably benign |
Het |
Ccdc137 |
A |
G |
11: 120,353,341 (GRCm39) |
|
probably benign |
Het |
Cd177 |
C |
A |
7: 24,443,741 (GRCm39) |
A786S |
probably benign |
Het |
Cdca4 |
T |
C |
12: 112,785,483 (GRCm39) |
N82D |
probably benign |
Het |
Clu |
A |
C |
14: 66,217,177 (GRCm39) |
T337P |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,707,074 (GRCm39) |
I2013S |
unknown |
Het |
Cyp3a13 |
A |
C |
5: 137,897,161 (GRCm39) |
N384K |
possibly damaging |
Het |
Fam186a |
A |
C |
15: 99,842,527 (GRCm39) |
I1239S |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,233,236 (GRCm39) |
E413G |
possibly damaging |
Het |
Fscn2 |
A |
C |
11: 120,257,575 (GRCm39) |
Y312S |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,293,474 (GRCm39) |
C401* |
probably null |
Het |
Glyat |
A |
C |
19: 12,627,627 (GRCm39) |
Q74P |
probably damaging |
Het |
Gm6158 |
A |
T |
14: 24,120,158 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
G |
6: 110,623,097 (GRCm39) |
N90S |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,791,662 (GRCm39) |
C2536S |
probably damaging |
Het |
Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
Kctd3 |
A |
C |
1: 188,727,890 (GRCm39) |
|
probably benign |
Het |
Klhl30 |
A |
G |
1: 91,283,300 (GRCm39) |
T301A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,156,072 (GRCm39) |
K228E |
possibly damaging |
Het |
Lamc3 |
A |
T |
2: 31,795,679 (GRCm39) |
T355S |
possibly damaging |
Het |
Lcmt1 |
A |
C |
7: 123,010,053 (GRCm39) |
|
probably null |
Het |
Limch1 |
C |
T |
5: 67,126,578 (GRCm39) |
P60S |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,377,528 (GRCm39) |
D203G |
probably damaging |
Het |
Mc5r |
T |
C |
18: 68,472,352 (GRCm39) |
L237P |
probably damaging |
Het |
Mknk2 |
G |
A |
10: 80,507,603 (GRCm39) |
R58W |
probably damaging |
Het |
Mrgpra2b |
T |
C |
7: 47,152,676 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Nae1 |
A |
T |
8: 105,243,334 (GRCm39) |
C395S |
possibly damaging |
Het |
Ncoa1 |
A |
G |
12: 4,309,333 (GRCm39) |
M1321T |
probably damaging |
Het |
Neb |
A |
C |
2: 52,170,513 (GRCm39) |
F1720V |
possibly damaging |
Het |
Nectin2 |
C |
T |
7: 19,472,198 (GRCm39) |
V64I |
probably benign |
Het |
Nisch |
T |
A |
14: 30,894,397 (GRCm39) |
T1145S |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,135,335 (GRCm39) |
R1009* |
probably null |
Het |
Or12d13 |
A |
T |
17: 37,647,822 (GRCm39) |
H100Q |
probably damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,894 (GRCm39) |
Y287N |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pak1ip1 |
A |
G |
13: 41,161,621 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,712,297 (GRCm39) |
V189A |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,167,573 (GRCm39) |
N118K |
probably damaging |
Het |
Phgdh |
T |
A |
3: 98,235,655 (GRCm39) |
I121F |
probably damaging |
Het |
Pi4ka |
G |
T |
16: 17,127,261 (GRCm39) |
A1064E |
probably benign |
Het |
Pkhd1 |
A |
C |
1: 20,655,935 (GRCm39) |
C199W |
probably benign |
Het |
Plat |
A |
G |
8: 23,262,327 (GRCm39) |
D117G |
probably benign |
Het |
Ppp2r2b |
C |
A |
18: 42,821,526 (GRCm39) |
V211L |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,294 (GRCm39) |
D60G |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,715,240 (GRCm39) |
E2776G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,059 (GRCm39) |
|
probably null |
Het |
Sharpin |
T |
C |
15: 76,231,811 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,100 (GRCm39) |
I164M |
possibly damaging |
Het |
Slco1a7 |
A |
C |
6: 141,713,180 (GRCm39) |
M67R |
possibly damaging |
Het |
Spef1 |
A |
G |
2: 131,015,201 (GRCm39) |
Y46H |
probably damaging |
Het |
Spns1 |
G |
A |
7: 125,973,501 (GRCm39) |
|
probably benign |
Het |
Supt5 |
C |
T |
7: 28,028,440 (GRCm39) |
|
probably null |
Het |
Tbx5 |
T |
A |
5: 119,974,987 (GRCm39) |
D3E |
probably damaging |
Het |
Thbs1 |
T |
C |
2: 117,951,718 (GRCm39) |
|
probably null |
Het |
Tmem140 |
G |
A |
6: 34,849,897 (GRCm39) |
V138M |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,869,813 (GRCm39) |
D152V |
probably damaging |
Het |
Tmem200b |
A |
G |
4: 131,649,848 (GRCm39) |
D256G |
probably damaging |
Het |
Tns1 |
A |
T |
1: 73,992,023 (GRCm39) |
L885Q |
probably damaging |
Het |
Umod |
G |
A |
7: 119,071,644 (GRCm39) |
Q366* |
probably null |
Het |
Vsir |
A |
G |
10: 60,200,042 (GRCm39) |
I208V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,479,671 (GRCm39) |
R616H |
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 |
|
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 |
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'- GCATTCAGAAGGATGACATTCAAG -3'
(R):5'- TTAACTTCCAGCAGTGGGTAGAC -3'
Sequencing Primer
(F):5'- TACAGTGAAGCTAAAGAGACTCTC -3'
(R):5'- GTAGACAGGTAAGCAGACTGC -3'
|
Posted On |
2016-06-06 |