Incidental Mutation 'IGL02158:Ccdc33'
| ID |
282338 |
| 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 # |
IGL02158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58028677-58118823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58030419 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 623
(D623G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034874]
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000215944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034874
|
| SMART Domains |
Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
Pfam:p450
|
49 |
507 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042205
AA Change: D624G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: D624G
| 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 |
possibly damaging
Transcript: ENSMUST00000098682
AA Change: D878G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: D878G
| 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 damaging
Transcript: ENSMUST00000119665
AA Change: D623G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: D623G
| 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: ENSMUST00000143797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153106
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215944
AA Change: D843G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,256,619 (GRCm38) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,447,879 (GRCm38) |
|
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,299,925 (GRCm38) |
S262R |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,848,421 (GRCm38) |
Q118L |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,518,971 (GRCm38) |
L753* |
probably null |
Het |
| Ahctf1 |
A |
T |
1: 179,779,652 (GRCm38) |
I699N |
possibly damaging |
Het |
| Arl11 |
C |
A |
14: 61,311,038 (GRCm38) |
A99E |
probably damaging |
Het |
| Atp5o |
G |
A |
16: 91,930,401 (GRCm38) |
R16W |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,599,325 (GRCm38) |
H238R |
probably null |
Het |
| Bpifb9a |
C |
A |
2: 154,266,813 (GRCm38) |
|
probably benign |
Het |
| Carhsp1 |
A |
G |
16: 8,663,713 (GRCm38) |
|
probably benign |
Het |
| Chd6 |
C |
A |
2: 161,026,292 (GRCm38) |
R378L |
possibly damaging |
Het |
| Chn2 |
T |
C |
6: 54,300,245 (GRCm38) |
|
probably benign |
Het |
| Clgn |
T |
G |
8: 83,423,136 (GRCm38) |
I422S |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,300,606 (GRCm38) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,568,130 (GRCm38) |
I470T |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,564,523 (GRCm38) |
|
probably null |
Het |
| Dnah1 |
G |
T |
14: 31,300,967 (GRCm38) |
T1071K |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,458,123 (GRCm38) |
M2513L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,058,910 (GRCm38) |
|
probably benign |
Het |
| Gm1587 |
T |
C |
14: 77,798,842 (GRCm38) |
E8G |
unknown |
Het |
| Hydin |
T |
C |
8: 110,609,966 (GRCm38) |
I5125T |
possibly damaging |
Het |
| Ighv5-9 |
G |
T |
12: 113,661,943 (GRCm38) |
P60Q |
probably damaging |
Het |
| Itga7 |
T |
G |
10: 128,953,782 (GRCm38) |
L993R |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,098,442 (GRCm38) |
N857S |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,492,664 (GRCm38) |
|
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,554,271 (GRCm38) |
N3093S |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,505,349 (GRCm38) |
F203S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 36,057,076 (GRCm38) |
D122G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 102,063,262 (GRCm38) |
L220I |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 47,185,952 (GRCm38) |
Y240* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,237,930 (GRCm38) |
I165T |
probably damaging |
Het |
| Mylk2 |
C |
A |
2: 152,919,157 (GRCm38) |
N428K |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 52,968,152 (GRCm38) |
Y239H |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,460,339 (GRCm38) |
L2263P |
probably damaging |
Het |
| Olfr130 |
T |
A |
17: 38,067,267 (GRCm38) |
I32N |
probably damaging |
Het |
| Olfr888 |
A |
G |
9: 38,109,129 (GRCm38) |
M148V |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,853,092 (GRCm38) |
Y387N |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,680,053 (GRCm38) |
Y324* |
probably null |
Het |
| Plcb2 |
C |
A |
2: 118,711,363 (GRCm38) |
R922L |
probably benign |
Het |
| Pml |
T |
C |
9: 58,247,003 (GRCm38) |
T196A |
probably benign |
Het |
| Ppp2r1b |
C |
A |
9: 50,861,609 (GRCm38) |
Q65K |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,862,357 (GRCm38) |
T507A |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,416,632 (GRCm38) |
|
probably null |
Het |
| Slc46a3 |
G |
T |
5: 147,886,234 (GRCm38) |
T266N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 118,212,946 (GRCm38) |
S41P |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,237,483 (GRCm38) |
N1837K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 30,030,324 (GRCm38) |
T2318A |
probably damaging |
Het |
| St7l |
C |
T |
3: 104,874,832 (GRCm38) |
T175I |
possibly damaging |
Het |
| Tmc7 |
G |
A |
7: 118,538,211 (GRCm38) |
R703C |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,836,886 (GRCm38) |
|
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,845,314 (GRCm38) |
I91N |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,814,599 (GRCm38) |
|
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 |
|
|
IGL01403:Ccdc33
|
APN |
9 |
58,117,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation