Incidental Mutation 'R1488:Ccdc24'
ID |
165490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc24
|
Ensembl Gene |
ENSMUSG00000078588 |
Gene Name |
coiled-coil domain containing 24 |
Synonyms |
LOC381546 |
MMRRC Submission |
039540-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1488 (G1)
|
Quality Score |
133 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 117727765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 134
(S134I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000171052]
[ENSMUST00000166325]
[ENSMUST00000164853]
[ENSMUST00000167287]
[ENSMUST00000131938]
[ENSMUST00000149168]
[ENSMUST00000163288]
[ENSMUST00000167443]
[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: S134I
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102030 Gene: ENSMUSG00000078588 AA Change: S134I
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: ENSMUST00000171052
AA Change: S162I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129502 Gene: ENSMUSG00000078588 AA Change: S162I
Domain | Start | End | E-Value | Type |
Pfam:CCDC24
|
21 |
201 |
3.9e-67 |
PFAM |
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166325
AA Change: S178I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131493 Gene: ENSMUSG00000078588 AA Change: S178I
Domain | Start | End | E-Value | Type |
coiled coil region
|
33 |
57 |
N/A |
INTRINSIC |
low complexity region
|
61 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164853
AA Change: S134I
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132114 Gene: ENSMUSG00000078588 AA Change: S134I
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 benign
Transcript: ENSMUST00000167287
AA Change: S14I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126161 Gene: ENSMUSG00000078588 AA Change: S14I
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
38 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154439
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163974
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170733
|
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: 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: 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: 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
G |
6: 48,910,381 (GRCm39) |
N691S |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,391,685 (GRCm39) |
S1401G |
possibly damaging |
Het |
Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
Atg4c |
T |
A |
4: 99,109,479 (GRCm39) |
W149R |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,460,049 (GRCm39) |
I71T |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,176,530 (GRCm39) |
L748F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 135,002,602 (GRCm39) |
Y157C |
probably damaging |
Het |
C2cd4a |
G |
T |
9: 67,738,990 (GRCm39) |
R18S |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,560,526 (GRCm39) |
H839R |
probably damaging |
Het |
Cd55 |
G |
T |
1: 130,376,115 (GRCm39) |
T70K |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,789,925 (GRCm39) |
K470N |
possibly damaging |
Het |
Csn2 |
G |
A |
5: 87,842,755 (GRCm39) |
Q91* |
probably null |
Het |
Ctsh |
G |
A |
9: 89,953,944 (GRCm39) |
D218N |
possibly damaging |
Het |
Cyb5r4 |
C |
G |
9: 86,911,591 (GRCm39) |
Y88* |
probably null |
Het |
Dgkq |
A |
G |
5: 108,798,743 (GRCm39) |
F601S |
probably damaging |
Het |
Eci2 |
A |
G |
13: 35,161,916 (GRCm39) |
V352A |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,255,997 (GRCm39) |
T421A |
probably benign |
Het |
Lamp5 |
T |
C |
2: 135,911,011 (GRCm39) |
V248A |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,515,850 (GRCm39) |
L483Q |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,392,036 (GRCm39) |
M509I |
probably benign |
Het |
Lrrfip1 |
T |
C |
1: 91,042,354 (GRCm39) |
V253A |
probably damaging |
Het |
Mpdz |
C |
A |
4: 81,266,945 (GRCm39) |
E981* |
probably null |
Het |
Mpo |
A |
C |
11: 87,688,256 (GRCm39) |
N305T |
probably damaging |
Het |
Or2y1 |
A |
G |
11: 49,385,945 (GRCm39) |
E195G |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,733,859 (GRCm39) |
I143V |
probably benign |
Het |
Or5p79 |
A |
T |
7: 108,221,696 (GRCm39) |
I226F |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,614,490 (GRCm39) |
S69P |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,652,941 (GRCm39) |
T470A |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,705,247 (GRCm39) |
D884G |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,263,752 (GRCm39) |
I1239K |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,592,364 (GRCm39) |
F625I |
probably damaging |
Het |
Rab20 |
A |
T |
8: 11,504,268 (GRCm39) |
V144E |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,371,715 (GRCm39) |
N4840S |
probably benign |
Het |
Scaf8 |
T |
G |
17: 3,247,872 (GRCm39) |
M1065R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,996,449 (GRCm39) |
L319P |
possibly damaging |
Het |
Slit1 |
A |
G |
19: 41,596,824 (GRCm39) |
C1092R |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,786 (GRCm39) |
D193G |
probably damaging |
Het |
Tmem145 |
T |
A |
7: 25,006,860 (GRCm39) |
|
probably null |
Het |
Tmem184a |
T |
A |
5: 139,793,395 (GRCm39) |
K235N |
probably benign |
Het |
Tnpo1 |
A |
T |
13: 98,993,415 (GRCm39) |
D590E |
probably damaging |
Het |
Trio |
C |
A |
15: 27,741,053 (GRCm39) |
G2724V |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,696,301 (GRCm39) |
Y34F |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,193,045 (GRCm39) |
T190A |
probably benign |
Het |
Tubgcp4 |
T |
G |
2: 121,007,031 (GRCm39) |
V136G |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r74 |
T |
C |
7: 11,581,510 (GRCm39) |
I270T |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,013,922 (GRCm39) |
E238V |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,137 (GRCm39) |
F313L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,731,752 (GRCm39) |
Y310H |
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 |
IGL02396:Ccdc24
|
APN |
4 |
117,726,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCTGAAGTTAGAGACCAAGAGC -3'
(R):5'- ATGGGGCTATTGGATGAGCCACAG -3'
Sequencing Primer
(F):5'- ATGAAGCCACTTGGCCTATC -3'
(R):5'- ATGAGCCACAGGTCCAGTG -3'
|
Posted On |
2014-03-28 |