Incidental Mutation 'R5250:Ccdc24'
| ID |
398922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc24
|
| Ensembl Gene |
ENSMUSG00000078588 |
| Gene Name |
coiled-coil domain containing 24 |
| Synonyms |
LOC381546 |
| MMRRC Submission |
042821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5250 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
| Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
| Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
| Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
| Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
| Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
| Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
| Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
| Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
| Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
| Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
| Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
| Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
probably benign |
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 |
|
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'- CAAAGGCTTTGATGGTTAGAACAG -3'
(R):5'- TGAGGTCATCCATTCCCAGC -3'
Sequencing Primer
(F):5'- CAGTTCTAGATAGCACTGACCTG -3'
(R):5'- GAGGTCATCCATTCCCAGCCTTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation