Incidental Mutation 'R6284:Ccdc24'
| ID |
508098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc24
|
| Ensembl Gene |
ENSMUSG00000078588 |
| Gene Name |
coiled-coil domain containing 24 |
| Synonyms |
LOC381546 |
| MMRRC Submission |
044454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6284 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1316 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 117726850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000164853]
[ENSMUST00000171052]
[ENSMUST00000163288]
[ENSMUST00000131938]
[ENSMUST00000166325]
[ENSMUST00000149168]
[ENSMUST00000169885]
[ENSMUST00000167443]
[ENSMUST00000167287]
|
| 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 null
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 null
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 benign
Transcript: ENSMUST00000106422
AA Change: S260T
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588
AA Change: S260T
| 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 benign
Transcript: ENSMUST00000164853
AA Change: S260T
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588
AA Change: S260T
| 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: ENSMUST00000171052
AA Change: S288T
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588
AA Change: S288T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC24
|
21 |
201 |
3.9e-67 |
PFAM |
|
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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: ENSMUST00000131938
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000164716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170733
|
| 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 null
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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000163974
|
| Meta Mutation Damage Score |
0.1560 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
| Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
| Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
| Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
| Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
| Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
| Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
| Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
| Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
| Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
| Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
| Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
| Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
| Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
| Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
| Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
| Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
| Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
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 |
|
|
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 |
|
|
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'- CAGTTCTAGATAGCACTGACCTG -3'
(R):5'- CATCTACCCATCCTGTGCAG -3'
Sequencing Primer
(F):5'- GTTCTAGATAGCACTGACCTGACAAG -3'
(R):5'- CCTGTGCAGGCAGAAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation