Incidental Mutation 'IGL03122:Ccdc24'
| ID |
410027 |
| 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 # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 117728942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000164853]
[ENSMUST00000166325]
[ENSMUST00000171052]
[ENSMUST00000131938]
[ENSMUST00000149168]
[ENSMUST00000163288]
[ENSMUST00000167287]
[ENSMUST00000169885]
[ENSMUST00000167443]
|
| 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 |
probably null
Transcript: ENSMUST00000106422
|
| SMART Domains |
Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588
| 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 |
probably null
Transcript: ENSMUST00000164853
|
| SMART Domains |
Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588
| 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 |
probably null
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 null
Transcript: ENSMUST00000171052
|
| SMART Domains |
Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588
| 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: ENSMUST00000163974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131938
|
| 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: 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: 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: ENSMUST00000169885
|
| SMART Domains |
Protein: ENSMUSP00000127093
Gene: ENSMUSG00000028542
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
1 |
450 |
1.2e-182 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
| Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly 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 |
|
IGL02396:Ccdc24
|
APN |
4 |
117,726,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
2016-08-02 |
Incidental Mutation