Incidental Mutation 'IGL02396:Ccdc24'
ID |
294330 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc24
|
Ensembl Gene |
ENSMUSG00000078588 |
Gene Name |
coiled-coil domain containing 24 |
Synonyms |
LOC381546 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02396
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117726826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 296
(T296A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000164853]
[ENSMUST00000171052]
[ENSMUST00000149168]
[ENSMUST00000167287]
[ENSMUST00000163288]
[ENSMUST00000166325]
[ENSMUST00000167443]
[ENSMUST00000131938]
[ENSMUST00000169885]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030266
|
SMART Domains |
Protein: ENSMUSP00000030266 Gene: ENSMUSG00000028541
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
94 |
228 |
4.2e-59 |
PFAM |
Pfam:Glyco_transf_7C
|
232 |
310 |
2.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030269
|
SMART Domains |
Protein: ENSMUSP00000030269 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
27 |
562 |
5.1e-234 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063857
|
SMART Domains |
Protein: ENSMUSP00000066102 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
27 |
562 |
5.1e-234 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084325
|
SMART Domains |
Protein: ENSMUSP00000081352 Gene: ENSMUSG00000028541
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
94 |
230 |
1.9e-47 |
PFAM |
Pfam:Glyco_transf_7C
|
232 |
310 |
2.6e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106421
|
SMART Domains |
Protein: ENSMUSP00000102029 Gene: ENSMUSG00000028541
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
94 |
230 |
1.9e-47 |
PFAM |
Pfam:Glyco_transf_7C
|
232 |
310 |
2.6e-32 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106422
AA Change: T268A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102030 Gene: ENSMUSG00000078588 AA Change: T268A
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
158 |
N/A |
INTRINSIC |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130758
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164853
AA Change: T268A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132114 Gene: ENSMUSG00000078588 AA Change: T268A
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
46 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
158 |
N/A |
INTRINSIC |
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171052
AA Change: T296A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129502 Gene: ENSMUSG00000078588 AA Change: T296A
Domain | Start | End | E-Value | Type |
Pfam:CCDC24
|
21 |
201 |
3.9e-67 |
PFAM |
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154439
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164716
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149168
|
SMART Domains |
Protein: ENSMUSP00000129359 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167287
|
SMART Domains |
Protein: ENSMUSP00000126161 Gene: ENSMUSG00000078588
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
38 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163288
|
SMART Domains |
Protein: ENSMUSP00000127289 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
46 |
566 |
2.1e-212 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166325
|
SMART Domains |
Protein: ENSMUSP00000131493 Gene: ENSMUSG00000078588
Domain | Start | End | E-Value | Type |
coiled coil region
|
33 |
57 |
N/A |
INTRINSIC |
low complexity region
|
61 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167443
|
SMART Domains |
Protein: ENSMUSP00000128771 Gene: ENSMUSG00000028541
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
94 |
188 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169885
|
SMART Domains |
Protein: ENSMUSP00000127093 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
1 |
450 |
1.2e-182 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
probably damaging |
Het |
|
Other mutations in Ccdc24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00586:Ccdc24
|
APN |
4 |
117,729,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03122:Ccdc24
|
APN |
4 |
117,728,942 (GRCm39) |
critical splice donor site |
probably null |
|
fusarium
|
UTSW |
4 |
117,728,374 (GRCm39) |
nonsense |
probably null |
|
R1473:Ccdc24
|
UTSW |
4 |
117,727,101 (GRCm39) |
splice site |
probably benign |
|
R1488:Ccdc24
|
UTSW |
4 |
117,727,765 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1986:Ccdc24
|
UTSW |
4 |
117,729,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R2233:Ccdc24
|
UTSW |
4 |
117,727,113 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4983:Ccdc24
|
UTSW |
4 |
117,729,297 (GRCm39) |
missense |
probably benign |
0.06 |
R5250:Ccdc24
|
UTSW |
4 |
117,726,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5677:Ccdc24
|
UTSW |
4 |
117,727,077 (GRCm39) |
intron |
probably benign |
|
R6092:Ccdc24
|
UTSW |
4 |
117,729,645 (GRCm39) |
nonsense |
probably null |
|
R6265:Ccdc24
|
UTSW |
4 |
117,728,374 (GRCm39) |
nonsense |
probably null |
|
R6284:Ccdc24
|
UTSW |
4 |
117,726,850 (GRCm39) |
splice site |
probably null |
|
R6736:Ccdc24
|
UTSW |
4 |
117,727,732 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6814:Ccdc24
|
UTSW |
4 |
117,727,123 (GRCm39) |
missense |
probably benign |
0.02 |
R6872:Ccdc24
|
UTSW |
4 |
117,727,123 (GRCm39) |
missense |
probably benign |
0.02 |
R7016:Ccdc24
|
UTSW |
4 |
117,728,313 (GRCm39) |
missense |
probably null |
1.00 |
R7073:Ccdc24
|
UTSW |
4 |
117,729,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R9151:Ccdc24
|
UTSW |
4 |
117,727,102 (GRCm39) |
missense |
unknown |
|
R9199:Ccdc24
|
UTSW |
4 |
117,728,313 (GRCm39) |
missense |
probably null |
1.00 |
R9345:Ccdc24
|
UTSW |
4 |
117,729,691 (GRCm39) |
nonsense |
probably null |
|
R9443:Ccdc24
|
UTSW |
4 |
117,728,355 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Ccdc24
|
UTSW |
4 |
117,729,348 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ccdc24
|
UTSW |
4 |
117,728,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |