Incidental Mutation 'R8833:Cpne9'
| ID |
673973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne9
|
| Ensembl Gene |
ENSMUSG00000030270 |
| Gene Name |
copine family member IX |
| Synonyms |
A730016F12Rik |
| MMRRC Submission |
068661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R8833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113259244-113282532 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113281473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 518
(L518P)
|
| 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: L518P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: L518P
| 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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
A |
13: 4,496,377 (GRCm39) |
D132E |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 50,011,318 (GRCm39) |
V130I |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,112,986 (GRCm39) |
E844G |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,045,629 (GRCm39) |
M311L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,169,069 (GRCm39) |
M153K |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,535,828 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,858,614 (GRCm39) |
I11V |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,625,519 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,783 (GRCm39) |
N804D |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,339,401 (GRCm39) |
D565N |
probably benign |
Het |
| Fscb |
T |
A |
12: 64,519,997 (GRCm39) |
T490S |
unknown |
Het |
| Fuca1 |
A |
G |
4: 135,648,206 (GRCm39) |
D31G |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,166,668 (GRCm39) |
N220K |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,337 (GRCm39) |
F207L |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,522,684 (GRCm39) |
N70S |
probably benign |
Het |
| Ifna13 |
C |
A |
4: 88,562,157 (GRCm39) |
E156* |
probably null |
Het |
| Jmjd1c |
G |
A |
10: 67,054,162 (GRCm39) |
R22H |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,365,134 (GRCm39) |
V3209A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,105 (GRCm39) |
T1684A |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,359,442 (GRCm39) |
E598V |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,520,681 (GRCm39) |
V125E |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,371,615 (GRCm39) |
T278I |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,643 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,823 (GRCm39) |
C169* |
probably null |
Het |
| Or52z13 |
T |
G |
7: 103,247,444 (GRCm39) |
F307C |
possibly damaging |
Het |
| Or5k14 |
A |
T |
16: 58,692,959 (GRCm39) |
Y185N |
probably damaging |
Het |
| Orm1 |
A |
T |
4: 63,262,938 (GRCm39) |
E35V |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,503,839 (GRCm39) |
I58N |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,384,158 (GRCm39) |
E841G |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,468 (GRCm39) |
R154I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,531,355 (GRCm39) |
F455L |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,982 (GRCm39) |
D331E |
probably benign |
Het |
| Pus7l |
A |
T |
15: 94,438,143 (GRCm39) |
F234Y |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,990,722 (GRCm39) |
L632Q |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,819,015 (GRCm38) |
|
probably benign |
Het |
| Ro60 |
T |
A |
1: 143,641,517 (GRCm39) |
K315* |
probably null |
Het |
| Rom1 |
A |
T |
19: 8,905,471 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,352 (GRCm39) |
S311P |
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,820,182 (GRCm39) |
D355G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,707,077 (GRCm39) |
A574T |
probably damaging |
Het |
| Sox11 |
A |
G |
12: 27,392,313 (GRCm39) |
V32A |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,915,436 (GRCm39) |
Y107C |
probably damaging |
Het |
| Speer1a |
C |
A |
5: 11,394,205 (GRCm39) |
Y104* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,024,814 (GRCm39) |
T595A |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tatdn2 |
T |
G |
6: 113,684,348 (GRCm39) |
I674S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,383,878 (GRCm39) |
S189R |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tor3a |
T |
C |
1: 156,483,373 (GRCm39) |
T350A |
probably benign |
Het |
| Ttr |
T |
G |
18: 20,799,550 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r129 |
A |
T |
7: 21,095,205 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,623 (GRCm39) |
M51T |
possibly damaging |
Het |
| Zfp141 |
T |
C |
7: 42,125,687 (GRCm39) |
T262A |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,427,596 (GRCm39) |
N108K |
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 |
|
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'- TCAGAAGGATGACATTCAAGTACAG -3'
(R):5'- GCCTTTAACTTCCAGCAGTGG -3'
Sequencing Primer
(F):5'- TACAGTGAAGCTAAAGAGACTCTC -3'
(R):5'- CTTTAACTTCCAGCAGTGGGTAGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation