Incidental Mutation 'IGL00332:Ccdc33'
| ID |
4872 |
| 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 # |
IGL00332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 57977257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
560 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098682
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
| 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: ENSMUST00000119665
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215944
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,083,737 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,620,996 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,378,667 (GRCm39) |
K2107E |
probably damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,233,662 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,985 (GRCm39) |
S337G |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,226,417 (GRCm39) |
N154D |
probably damaging |
Het |
| Asb14 |
A |
G |
14: 26,633,998 (GRCm39) |
K401R |
probably benign |
Het |
| Aspn |
C |
A |
13: 49,719,968 (GRCm39) |
T328K |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,463,363 (GRCm39) |
H1042Q |
probably benign |
Het |
| C3 |
A |
G |
17: 57,533,004 (GRCm39) |
L167P |
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,063 (GRCm39) |
M222K |
possibly damaging |
Het |
| Cfap45 |
C |
T |
1: 172,362,912 (GRCm39) |
|
probably benign |
Het |
| Chil3 |
T |
A |
3: 106,056,017 (GRCm39) |
N352I |
probably damaging |
Het |
| Chn2 |
G |
T |
6: 54,272,907 (GRCm39) |
|
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,305,066 (GRCm39) |
E394G |
probably benign |
Het |
| Fcgr2b |
T |
A |
1: 170,788,799 (GRCm39) |
N273I |
possibly damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,333,480 (GRCm39) |
Q337* |
probably null |
Het |
| Fras1 |
T |
A |
5: 96,887,217 (GRCm39) |
N2666K |
possibly damaging |
Het |
| Gfra3 |
C |
T |
18: 34,824,601 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gpr75 |
C |
T |
11: 30,841,590 (GRCm39) |
T165I |
probably damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,737 (GRCm39) |
C179S |
probably damaging |
Het |
| Hand1 |
T |
G |
11: 57,722,575 (GRCm39) |
H13P |
probably damaging |
Het |
| Irak3 |
C |
T |
10: 120,013,972 (GRCm39) |
|
probably null |
Het |
| Isl2 |
T |
A |
9: 55,452,253 (GRCm39) |
L275Q |
possibly damaging |
Het |
| Itgb2 |
T |
C |
10: 77,393,240 (GRCm39) |
V367A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,638,758 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,450 (GRCm39) |
M1627T |
probably benign |
Het |
| Naprt |
A |
G |
15: 75,765,164 (GRCm39) |
Y187H |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,642,371 (GRCm39) |
V550E |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,954 (GRCm39) |
V252A |
possibly damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,579 (GRCm39) |
I126V |
possibly damaging |
Het |
| Or9i16 |
C |
T |
19: 13,864,945 (GRCm39) |
V210I |
probably benign |
Het |
| P2ry2 |
A |
G |
7: 100,647,393 (GRCm39) |
V304A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,674,593 (GRCm39) |
N108D |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,438,660 (GRCm39) |
T199A |
probably damaging |
Het |
| Plaa |
A |
G |
4: 94,470,844 (GRCm39) |
Y431H |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,664,472 (GRCm39) |
I177N |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,472,138 (GRCm39) |
F1035L |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,564,729 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,067,890 (GRCm39) |
S240P |
probably benign |
Het |
| Reg2 |
T |
A |
6: 78,383,204 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,682,965 (GRCm39) |
T361I |
probably benign |
Het |
| Rps4l |
A |
G |
6: 148,256,383 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,598,982 (GRCm39) |
F1183I |
probably damaging |
Het |
| Sh2b2 |
T |
C |
5: 136,253,273 (GRCm39) |
E327G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,584 (GRCm39) |
K1057R |
probably damaging |
Het |
| Sim2 |
T |
A |
16: 93,915,803 (GRCm39) |
Y255* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,949,636 (GRCm39) |
N112S |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,258,237 (GRCm39) |
I169F |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,100,111 (GRCm39) |
T43A |
probably benign |
Het |
| Stac2 |
C |
T |
11: 97,932,005 (GRCm39) |
S265N |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,670,044 (GRCm39) |
V91A |
probably damaging |
Het |
| Tgfbr2 |
C |
T |
9: 115,939,257 (GRCm39) |
R190H |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,301,916 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,063,204 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
T |
C |
9: 106,061,449 (GRCm39) |
V166A |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,307,401 (GRCm39) |
A209V |
probably damaging |
Het |
| Zfp518b |
T |
A |
5: 38,831,109 (GRCm39) |
T299S |
possibly damaging |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Ccdc33
|
APN |
9 |
58,024,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation