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 |
58028677-58118823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58117385 bp (GRCm38)
|
| 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 |
|---|
| 4930430A15Rik |
T |
C |
2: 111,229,170 |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,872,867 |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,919,610 |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,234,915 |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 13,903,870 |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 60,012,458 |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,466,559 |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,202,513 |
I753V |
probably benign |
Het |
| Ccdc78 |
T |
A |
17: 25,788,244 |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,362,966 |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,114,825 |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,116,300 |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,269,710 |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,839,626 |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 126,035,940 |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,593,097 |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,932,242 |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,963,436 |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,370,099 |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,645,319 |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,118,595 |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 100,038,290 |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,463,388 |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,158,648 |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,406,578 |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,871,563 |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,555,129 |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 33,885,378 |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,623,186 |
V427A |
probably benign |
Het |
| Olfr476 |
A |
G |
7: 107,967,621 |
T75A |
possibly damaging |
Het |
| Olfr690 |
G |
A |
7: 105,329,398 |
R265C |
probably benign |
Het |
| Pde4a |
A |
T |
9: 21,205,116 |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,483,833 |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,424,288 |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 5,959,093 |
H79R |
probably benign |
Het |
| Pramef20 |
A |
T |
4: 144,377,133 |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,234,983 |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,443,300 |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 77,031,672 |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,158,132 |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,791,074 |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,268,668 |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 19,792,967 |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,479 |
D1857E |
probably benign |
Het |
|
| Other mutations in Ccdc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ccdc33
|
APN |
9 |
58,069,974 (GRCm38) |
splice site |
probably benign |
|
|
IGL01411:Ccdc33
|
APN |
9 |
58,117,636 (GRCm38) |
splice site |
probably benign |
|
|
IGL01714:Ccdc33
|
APN |
9 |
58,029,870 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02028:Ccdc33
|
APN |
9 |
58,076,578 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02158:Ccdc33
|
APN |
9 |
58,030,419 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02174:Ccdc33
|
APN |
9 |
58,033,655 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL02805:Ccdc33
|
APN |
9 |
58,098,591 (GRCm38) |
missense |
probably benign |
0.43 |
|
R0276:Ccdc33
|
UTSW |
9 |
58,058,392 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0537:Ccdc33
|
UTSW |
9 |
58,117,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0737:Ccdc33
|
UTSW |
9 |
58,082,048 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0789:Ccdc33
|
UTSW |
9 |
58,117,214 (GRCm38) |
splice site |
probably benign |
|
|
R0791:Ccdc33
|
UTSW |
9 |
58,028,763 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0920:Ccdc33
|
UTSW |
9 |
58,033,672 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1541:Ccdc33
|
UTSW |
9 |
58,117,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Ccdc33
|
UTSW |
9 |
58,117,446 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1857:Ccdc33
|
UTSW |
9 |
58,032,708 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1976:Ccdc33
|
UTSW |
9 |
58,117,162 (GRCm38) |
nonsense |
probably null |
|
|
R1982:Ccdc33
|
UTSW |
9 |
58,117,168 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2044:Ccdc33
|
UTSW |
9 |
58,031,112 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2224:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2225:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2227:Ccdc33
|
UTSW |
9 |
58,082,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2369:Ccdc33
|
UTSW |
9 |
58,076,630 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3899:Ccdc33
|
UTSW |
9 |
58,032,917 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4468:Ccdc33
|
UTSW |
9 |
58,069,872 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4468:Ccdc33
|
UTSW |
9 |
58,029,952 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4703:Ccdc33
|
UTSW |
9 |
58,033,670 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4705:Ccdc33
|
UTSW |
9 |
58,117,557 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4790:Ccdc33
|
UTSW |
9 |
58,029,957 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4817:Ccdc33
|
UTSW |
9 |
58,067,535 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4879:Ccdc33
|
UTSW |
9 |
58,067,556 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4931:Ccdc33
|
UTSW |
9 |
58,069,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5015:Ccdc33
|
UTSW |
9 |
58,118,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Ccdc33
|
UTSW |
9 |
58,032,984 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5327:Ccdc33
|
UTSW |
9 |
58,086,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5528:Ccdc33
|
UTSW |
9 |
58,028,795 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5534:Ccdc33
|
UTSW |
9 |
58,117,167 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5786:Ccdc33
|
UTSW |
9 |
58,029,952 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5844:Ccdc33
|
UTSW |
9 |
58,033,206 (GRCm38) |
splice site |
probably benign |
|
|
R5975:Ccdc33
|
UTSW |
9 |
58,117,478 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6120:Ccdc33
|
UTSW |
9 |
58,086,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6256:Ccdc33
|
UTSW |
9 |
58,101,918 (GRCm38) |
splice site |
probably null |
|
|
R6363:Ccdc33
|
UTSW |
9 |
58,114,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6610:Ccdc33
|
UTSW |
9 |
58,069,136 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6767:Ccdc33
|
UTSW |
9 |
58,033,244 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7072:Ccdc33
|
UTSW |
9 |
58,111,984 (GRCm38) |
makesense |
probably null |
|
|
R7121:Ccdc33
|
UTSW |
9 |
58,080,884 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7182:Ccdc33
|
UTSW |
9 |
58,034,173 (GRCm38) |
splice site |
probably null |
|
|
R7239:Ccdc33
|
UTSW |
9 |
58,032,909 (GRCm38) |
nonsense |
probably null |
|
|
R7655:Ccdc33
|
UTSW |
9 |
58,118,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7656:Ccdc33
|
UTSW |
9 |
58,118,465 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7868:Ccdc33
|
UTSW |
9 |
58,069,091 (GRCm38) |
missense |
probably benign |
|
|
R8215:Ccdc33
|
UTSW |
9 |
58,032,712 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9139:Ccdc33
|
UTSW |
9 |
58,076,559 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9204:Ccdc33
|
UTSW |
9 |
58,031,105 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9280:Ccdc33
|
UTSW |
9 |
58,058,266 (GRCm38) |
missense |
probably benign |
|
|
R9297:Ccdc33
|
UTSW |
9 |
58,086,593 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9318:Ccdc33
|
UTSW |
9 |
58,086,593 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9361:Ccdc33
|
UTSW |
9 |
58,117,625 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9664:Ccdc33
|
UTSW |
9 |
58,086,572 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
RF003:Ccdc33
|
UTSW |
9 |
58,058,291 (GRCm38) |
missense |
probably benign |
0.18 |
|
Z1176:Ccdc33
|
UTSW |
9 |
58,117,416 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Ccdc33
|
UTSW |
9 |
58,118,585 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2013-11-05 |
Incidental Mutation