Incidental Mutation 'IGL01403:Ccdc33'
| ID |
79713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc33
|
| Ensembl Gene |
ENSMUSG00000037716 |
| Gene Name |
coiled-coil domain containing 33 |
| Synonyms |
LOC382077, 4930535E21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58024668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 186
(Y186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098681]
[ENSMUST00000098682]
[ENSMUST00000128021]
[ENSMUST00000136154]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098681
AA Change: Y186C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098682
AA Change: Y186C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Y186C
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
281 |
385 |
5.79e-3 |
SMART |
|
coiled coil region
|
598 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
884 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128021
|
| SMART Domains |
Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
87 |
8.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136154
|
| SMART Domains |
Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
199 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215944
AA Change: Y186C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
| Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ccdc33
|
APN |
9 |
57,977,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:Ccdc33
|
APN |
9 |
58,024,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL01714:Ccdc33
|
APN |
9 |
57,937,153 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02028:Ccdc33
|
APN |
9 |
57,983,861 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02158:Ccdc33
|
APN |
9 |
57,937,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02174:Ccdc33
|
APN |
9 |
57,940,938 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02805:Ccdc33
|
APN |
9 |
58,005,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0276:Ccdc33
|
UTSW |
9 |
57,965,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0537:Ccdc33
|
UTSW |
9 |
58,024,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Ccdc33
|
UTSW |
9 |
57,989,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0789:Ccdc33
|
UTSW |
9 |
58,024,497 (GRCm39) |
splice site |
probably benign |
|
|
R0791:Ccdc33
|
UTSW |
9 |
57,936,046 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0920:Ccdc33
|
UTSW |
9 |
57,940,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1541:Ccdc33
|
UTSW |
9 |
58,024,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Ccdc33
|
UTSW |
9 |
58,024,729 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1857:Ccdc33
|
UTSW |
9 |
57,939,991 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1976:Ccdc33
|
UTSW |
9 |
58,024,445 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Ccdc33
|
UTSW |
9 |
58,024,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2044:Ccdc33
|
UTSW |
9 |
57,938,395 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2224:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Ccdc33
|
UTSW |
9 |
57,989,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Ccdc33
|
UTSW |
9 |
57,983,913 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3899:Ccdc33
|
UTSW |
9 |
57,940,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,977,155 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4468:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4703:Ccdc33
|
UTSW |
9 |
57,940,953 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4705:Ccdc33
|
UTSW |
9 |
58,024,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4790:Ccdc33
|
UTSW |
9 |
57,937,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4817:Ccdc33
|
UTSW |
9 |
57,974,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4879:Ccdc33
|
UTSW |
9 |
57,974,839 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4931:Ccdc33
|
UTSW |
9 |
57,977,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc33
|
UTSW |
9 |
58,025,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ccdc33
|
UTSW |
9 |
57,940,267 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5327:Ccdc33
|
UTSW |
9 |
57,993,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5528:Ccdc33
|
UTSW |
9 |
57,936,078 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5534:Ccdc33
|
UTSW |
9 |
58,024,450 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5786:Ccdc33
|
UTSW |
9 |
57,937,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5844:Ccdc33
|
UTSW |
9 |
57,940,489 (GRCm39) |
splice site |
probably benign |
|
|
R5975:Ccdc33
|
UTSW |
9 |
58,024,761 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6120:Ccdc33
|
UTSW |
9 |
57,993,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Ccdc33
|
UTSW |
9 |
58,009,201 (GRCm39) |
splice site |
probably null |
|
|
R6363:Ccdc33
|
UTSW |
9 |
58,021,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6610:Ccdc33
|
UTSW |
9 |
57,976,419 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6767:Ccdc33
|
UTSW |
9 |
57,940,527 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7072:Ccdc33
|
UTSW |
9 |
58,019,267 (GRCm39) |
makesense |
probably null |
|
|
R7121:Ccdc33
|
UTSW |
9 |
57,988,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Ccdc33
|
UTSW |
9 |
57,941,456 (GRCm39) |
splice site |
probably null |
|
|
R7239:Ccdc33
|
UTSW |
9 |
57,940,192 (GRCm39) |
nonsense |
probably null |
|
|
R7655:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7656:Ccdc33
|
UTSW |
9 |
58,025,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7868:Ccdc33
|
UTSW |
9 |
57,976,374 (GRCm39) |
missense |
probably benign |
|
|
R8215:Ccdc33
|
UTSW |
9 |
57,939,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9139:Ccdc33
|
UTSW |
9 |
57,983,842 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9204:Ccdc33
|
UTSW |
9 |
57,938,388 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9280:Ccdc33
|
UTSW |
9 |
57,965,549 (GRCm39) |
missense |
probably benign |
|
|
R9297:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9318:Ccdc33
|
UTSW |
9 |
57,993,876 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9361:Ccdc33
|
UTSW |
9 |
58,024,908 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9664:Ccdc33
|
UTSW |
9 |
57,993,855 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF003:Ccdc33
|
UTSW |
9 |
57,965,574 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1176:Ccdc33
|
UTSW |
9 |
58,024,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ccdc33
|
UTSW |
9 |
58,025,868 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2013-11-05 |
Incidental Mutation