Incidental Mutation 'R5437:Cpne9'
| ID |
428421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| MMRRC Submission |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R5437 (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 113281591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000130191]
[ENSMUST00000204198]
[ENSMUST00000204626]
[ENSMUST00000203577]
|
| 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: 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 |
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: ENSMUST00000156734
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136728
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000203569
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,684 (GRCm39) |
Q576K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,053,668 (GRCm39) |
N378I |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Fkbp10 |
A |
C |
11: 100,311,849 (GRCm39) |
D174A |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,090 (GRCm39) |
R643C |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,733 (GRCm39) |
D1038G |
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
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 |
|
|
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'- TCCCATTCCGAGATTATGTTGACC -3'
(R):5'- ACCCATGAGACAGAGACTGC -3'
Sequencing Primer
(F):5'- CATTCCGAGATTATGTTGACCGATCG -3'
(R):5'- AGACTGCGTAAGATGAGCTTTATTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation