Incidental Mutation 'IGL01111:Ccdc13'
| ID |
51943 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc13
|
| Ensembl Gene |
ENSMUSG00000079235 |
| Gene Name |
coiled-coil domain containing 13 |
| Synonyms |
2900041A11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121626693-121668527 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 121639150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135986]
[ENSMUST00000142783]
[ENSMUST00000155511]
|
| AlphaFold |
D3YV10 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135986
|
| SMART Domains |
Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
70 |
103 |
N/A |
INTRINSIC |
|
coiled coil region
|
139 |
178 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
coiled coil region
|
323 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
458 |
N/A |
INTRINSIC |
|
coiled coil region
|
550 |
604 |
N/A |
INTRINSIC |
|
coiled coil region
|
648 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142783
|
| SMART Domains |
Protein: ENSMUSP00000130887
Gene: ENSMUSG00000079235
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
68 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155511
|
| 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 |
|---|
| Ammecr1l |
T |
A |
18: 31,905,123 (GRCm39) |
Y121* |
probably null |
Het |
| Apc |
C |
T |
18: 34,448,189 (GRCm39) |
T1661I |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpt1c |
T |
C |
7: 44,614,978 (GRCm39) |
H325R |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,883 (GRCm39) |
K227E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,071,248 (GRCm39) |
K682E |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,098,971 (GRCm39) |
Y123H |
possibly damaging |
Het |
| Dnaaf9 |
G |
T |
2: 130,578,518 (GRCm39) |
D655E |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 118,106,669 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,071,681 (GRCm39) |
E153G |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,260,282 (GRCm39) |
Y64* |
probably null |
Het |
| Ephb2 |
A |
T |
4: 136,384,721 (GRCm39) |
S897T |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,515,146 (GRCm39) |
I1092T |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,790,972 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,574,520 (GRCm39) |
H67L |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,377,834 (GRCm39) |
L11P |
probably damaging |
Het |
| Jmy |
T |
C |
13: 93,577,529 (GRCm39) |
R880G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,202,081 (GRCm39) |
C532R |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,833,259 (GRCm39) |
|
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,569,099 (GRCm39) |
V591A |
possibly damaging |
Het |
| Ldc1 |
T |
A |
4: 130,115,518 (GRCm39) |
D10V |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,852 (GRCm39) |
N959Y |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,853,109 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,721 (GRCm39) |
S431T |
possibly damaging |
Het |
| Mx2 |
A |
T |
16: 97,359,919 (GRCm39) |
Q563L |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,333,990 (GRCm39) |
Y874N |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,563,553 (GRCm39) |
I1373T |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,643 (GRCm39) |
D1409V |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,473,789 (GRCm39) |
V744E |
possibly damaging |
Het |
| Or51l4 |
T |
A |
7: 103,404,580 (GRCm39) |
T71S |
probably benign |
Het |
| Pgap1 |
T |
C |
1: 54,570,102 (GRCm39) |
K315R |
probably benign |
Het |
| Rab8a |
T |
C |
8: 72,929,700 (GRCm39) |
V114A |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,496,812 (GRCm39) |
T73A |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,875 (GRCm39) |
E265G |
probably damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,671,000 (GRCm39) |
V529M |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,405,961 (GRCm39) |
A613E |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,182,120 (GRCm39) |
|
probably null |
Het |
| Tbck |
A |
G |
3: 132,400,168 (GRCm39) |
H73R |
probably damaging |
Het |
| Thg1l |
A |
T |
11: 45,839,051 (GRCm39) |
D220E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,667 (GRCm39) |
G16037D |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,096,927 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,083,831 (GRCm39) |
D68E |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,728,740 (GRCm39) |
T505A |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,711 (GRCm39) |
K25E |
probably damaging |
Het |
|
| Other mutations in Ccdc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Ccdc13
|
APN |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
|
ANU23:Ccdc13
|
UTSW |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0112:Ccdc13
|
UTSW |
9 |
121,642,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0144:Ccdc13
|
UTSW |
9 |
121,656,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0360:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Ccdc13
|
UTSW |
9 |
121,642,515 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1674:Ccdc13
|
UTSW |
9 |
121,638,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Ccdc13
|
UTSW |
9 |
121,654,134 (GRCm39) |
splice site |
probably null |
|
|
R1710:Ccdc13
|
UTSW |
9 |
121,648,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Ccdc13
|
UTSW |
9 |
121,660,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3822:Ccdc13
|
UTSW |
9 |
121,660,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Ccdc13
|
UTSW |
9 |
121,628,005 (GRCm39) |
intron |
probably benign |
|
|
R4695:Ccdc13
|
UTSW |
9 |
121,649,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Ccdc13
|
UTSW |
9 |
121,662,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5058:Ccdc13
|
UTSW |
9 |
121,646,613 (GRCm39) |
intron |
probably benign |
|
|
R5283:Ccdc13
|
UTSW |
9 |
121,637,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Ccdc13
|
UTSW |
9 |
121,628,109 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5601:Ccdc13
|
UTSW |
9 |
121,629,638 (GRCm39) |
nonsense |
probably null |
|
|
R5623:Ccdc13
|
UTSW |
9 |
121,662,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5653:Ccdc13
|
UTSW |
9 |
121,627,853 (GRCm39) |
makesense |
probably null |
|
|
R5665:Ccdc13
|
UTSW |
9 |
121,643,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5975:Ccdc13
|
UTSW |
9 |
121,656,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6212:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6213:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6214:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6215:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6222:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6223:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6257:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R7053:Ccdc13
|
UTSW |
9 |
121,662,904 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7664:Ccdc13
|
UTSW |
9 |
121,643,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7909:Ccdc13
|
UTSW |
9 |
121,662,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7943:Ccdc13
|
UTSW |
9 |
121,628,196 (GRCm39) |
missense |
unknown |
|
|
R8464:Ccdc13
|
UTSW |
9 |
121,649,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8827:Ccdc13
|
UTSW |
9 |
121,645,765 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9445:Ccdc13
|
UTSW |
9 |
121,627,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF006:Ccdc13
|
UTSW |
9 |
121,643,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation