Incidental Mutation 'IGL01411:Ccdc33'
ID |
80050 |
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 # |
IGL01411
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57935960-58026106 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 58024919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000098681
|
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: 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 benign
Transcript: ENSMUST00000215944
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,087 (GRCm39) |
D468E |
possibly damaging |
Het |
B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
Mlip |
A |
G |
9: 77,146,699 (GRCm39) |
I198T |
possibly damaging |
Het |
Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,794,103 (GRCm39) |
N164K |
probably damaging |
Het |
Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
Wt1 |
A |
G |
2: 104,963,319 (GRCm39) |
Y16C |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
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 |
|
IGL01403:Ccdc33
|
APN |
9 |
58,024,668 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |