Incidental Mutation 'R6265:Ccdc24'
ID |
527954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc24
|
Ensembl Gene |
ENSMUSG00000078588 |
Gene Name |
coiled-coil domain containing 24 |
Synonyms |
LOC381546 |
MMRRC Submission |
044438-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6265 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 117728374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 47
(Q47*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000131938]
[ENSMUST00000149168]
[ENSMUST00000171052]
[ENSMUST00000167443]
[ENSMUST00000169885]
[ENSMUST00000164853]
[ENSMUST00000167287]
[ENSMUST00000166325]
[ENSMUST00000163288]
|
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 |
silent
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: ENSMUST00000131938
AA Change: Q47*
|
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 |
noncoding transcript
Transcript: ENSMUST00000154439
|
Predicted Effect |
probably benign
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: ENSMUST00000164716
|
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 |
|
Predicted Effect |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000163974
|
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 |
silent
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: ENSMUST00000163288
|
SMART Domains |
Protein: ENSMUSP00000127289 Gene: ENSMUSG00000028542
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
46 |
566 |
2.1e-212 |
PFAM |
|
Meta Mutation Damage Score |
0.8541 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
C |
T |
4: 137,181,986 (GRCm39) |
P47L |
probably damaging |
Het |
Acot1 |
T |
C |
12: 84,063,687 (GRCm39) |
I265T |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,482,951 (GRCm39) |
D587G |
possibly damaging |
Het |
Anks1b |
T |
G |
10: 90,777,362 (GRCm39) |
D1117E |
probably damaging |
Het |
Art4 |
T |
G |
6: 136,831,886 (GRCm39) |
N85T |
probably damaging |
Het |
Asb3 |
C |
A |
11: 31,035,143 (GRCm39) |
Q462K |
probably benign |
Het |
Atcay |
C |
T |
10: 81,049,114 (GRCm39) |
E163K |
possibly damaging |
Het |
Atp6v0e |
T |
C |
17: 26,895,507 (GRCm39) |
V20A |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,505,943 (GRCm39) |
Q520* |
probably null |
Het |
Baat |
A |
T |
4: 49,502,836 (GRCm39) |
D95E |
possibly damaging |
Het |
Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
Cep170b |
C |
A |
12: 112,710,993 (GRCm39) |
Q1488K |
probably damaging |
Het |
Cldn24 |
A |
C |
8: 48,275,374 (GRCm39) |
D66A |
probably benign |
Het |
Cln5 |
C |
A |
14: 103,310,663 (GRCm39) |
T110K |
probably damaging |
Het |
Clvs2 |
C |
A |
10: 33,404,511 (GRCm39) |
S235I |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,705,060 (GRCm39) |
G730R |
unknown |
Het |
Crim1 |
C |
T |
17: 78,677,514 (GRCm39) |
P905L |
probably benign |
Het |
Cxxc4 |
T |
C |
3: 133,963,824 (GRCm39) |
V356A |
probably benign |
Het |
Dctn6 |
G |
T |
8: 34,562,057 (GRCm39) |
N93K |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 66,058,920 (GRCm39) |
A125V |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,342,577 (GRCm39) |
I1307T |
probably benign |
Het |
Dpy19l1 |
T |
A |
9: 24,343,667 (GRCm39) |
I493F |
possibly damaging |
Het |
Ebf2 |
A |
G |
14: 67,661,509 (GRCm39) |
I546V |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,636 (GRCm39) |
E209G |
probably damaging |
Het |
Foxj2 |
G |
A |
6: 122,805,133 (GRCm39) |
A2T |
probably damaging |
Het |
Foxs1 |
A |
T |
2: 152,774,098 (GRCm39) |
C318* |
probably null |
Het |
Gorab |
T |
C |
1: 163,214,199 (GRCm39) |
T244A |
possibly damaging |
Het |
Gtsf1l |
C |
A |
2: 162,929,583 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
C |
9: 66,279,298 (GRCm39) |
S69P |
probably benign |
Het |
Hpca |
C |
T |
4: 129,012,445 (GRCm39) |
W30* |
probably null |
Het |
Ing3 |
C |
A |
6: 21,953,813 (GRCm39) |
Q85K |
probably damaging |
Het |
Klhdc8b |
T |
C |
9: 108,325,624 (GRCm39) |
E264G |
probably damaging |
Het |
Lair1 |
T |
A |
7: 4,058,826 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
Lamtor2 |
C |
A |
3: 88,458,020 (GRCm39) |
G29* |
probably null |
Het |
Loxhd1 |
A |
T |
18: 77,449,426 (GRCm39) |
D341V |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,296,684 (GRCm39) |
D3290V |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,399,301 (GRCm39) |
D396V |
probably damaging |
Het |
Me3 |
T |
A |
7: 89,498,951 (GRCm39) |
D510E |
probably benign |
Het |
Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
Mgat2 |
T |
C |
12: 69,231,567 (GRCm39) |
V47A |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,278,049 (GRCm39) |
I631T |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,710,511 (GRCm39) |
|
probably null |
Het |
Myo7b |
A |
T |
18: 32,131,203 (GRCm39) |
D521E |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,796,608 (GRCm39) |
F986I |
probably benign |
Het |
Or8k39 |
A |
G |
2: 86,563,299 (GRCm39) |
L219P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,804 (GRCm39) |
D690G |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,184,954 (GRCm39) |
S5P |
probably damaging |
Het |
Reep4 |
A |
T |
14: 70,785,143 (GRCm39) |
S150C |
probably damaging |
Het |
Slc25a21 |
T |
C |
12: 57,243,685 (GRCm39) |
R14G |
probably benign |
Het |
Slc6a6 |
G |
C |
6: 91,731,896 (GRCm39) |
R575T |
probably damaging |
Het |
Speg |
T |
A |
1: 75,383,323 (GRCm39) |
Y886* |
probably null |
Het |
Tas2r103 |
A |
C |
6: 133,013,494 (GRCm39) |
F191V |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 53,995,266 (GRCm39) |
D145G |
probably benign |
Het |
Tex47 |
T |
A |
5: 7,355,461 (GRCm39) |
I214N |
probably damaging |
Het |
Tnnt3 |
A |
T |
7: 142,055,382 (GRCm39) |
D3V |
probably damaging |
Het |
Trdv2-1 |
T |
G |
14: 54,183,842 (GRCm39) |
S24A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,179,951 (GRCm39) |
D3377G |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,361,665 (GRCm39) |
D147V |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,446,843 (GRCm39) |
D103E |
probably benign |
Homo |
Vmn1r168 |
A |
G |
7: 23,240,961 (GRCm39) |
I273V |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,915,915 (GRCm39) |
I176T |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,956,463 (GRCm39) |
D53V |
probably benign |
Het |
Zbtb8os |
A |
T |
4: 129,229,775 (GRCm39) |
|
probably benign |
Het |
Zfp551 |
C |
T |
7: 12,149,339 (GRCm39) |
R690Q |
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 |
|
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'- ACACTACCCCTTTCTGGCAG -3'
(R):5'- TGCACAAGTATACTGTGCCAG -3'
Sequencing Primer
(F):5'- GCAGTCCCAGCCCCTTAATTTC -3'
(R):5'- TATAAGCTGAGCATTGTCCCCAG -3'
|
Posted On |
2018-07-23 |