Incidental Mutation 'R2233:Ccdc24'
| ID |
240167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc24
|
| Ensembl Gene |
ENSMUSG00000078588 |
| Gene Name |
coiled-coil domain containing 24 |
| Synonyms |
LOC381546 |
| MMRRC Submission |
040234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2233 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117725946-117729808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117727113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 79
(K79R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030266]
[ENSMUST00000030269]
[ENSMUST00000063857]
[ENSMUST00000084325]
[ENSMUST00000106421]
[ENSMUST00000106422]
[ENSMUST00000171052]
[ENSMUST00000167287]
[ENSMUST00000164853]
[ENSMUST00000166325]
[ENSMUST00000163288]
[ENSMUST00000149168]
[ENSMUST00000131938]
[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 benign
Transcript: ENSMUST00000106422
AA Change: K199R
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588
AA Change: K199R
| 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: ENSMUST00000171052
AA Change: K227R
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588
AA Change: K227R
| 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: ENSMUST00000167287
AA Change: K79R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126161
Gene: ENSMUSG00000078588
AA Change: K79R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
38 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164853
AA Change: K199R
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588
AA Change: K199R
| 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 |
noncoding transcript
Transcript: ENSMUST00000154439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170733
|
| 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: 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: 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: 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 |
|
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
| Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,271,888 (GRCm39) |
I1214V |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,313,343 (GRCm39) |
E6384G |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,002 (GRCm39) |
T388A |
probably damaging |
Het |
| Gimap6 |
T |
A |
6: 48,681,418 (GRCm39) |
H72L |
possibly damaging |
Het |
| Gm11149 |
A |
G |
9: 49,473,446 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,658,510 (GRCm39) |
D385G |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,683,634 (GRCm39) |
D438E |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,953,582 (GRCm39) |
R756Q |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,524 (GRCm39) |
V1544I |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or9m1 |
G |
A |
2: 87,733,819 (GRCm39) |
S67F |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
| Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
| Prl7a1 |
C |
A |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Prss16 |
T |
C |
13: 22,193,579 (GRCm39) |
D72G |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,772,092 (GRCm39) |
K33E |
probably benign |
Het |
| Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
| Rhobtb3 |
C |
A |
13: 76,020,484 (GRCm39) |
C606F |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc25a29 |
A |
T |
12: 108,801,587 (GRCm39) |
C9S |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,680,624 (GRCm39) |
T427A |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,293,897 (GRCm39) |
F211L |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,883,837 (GRCm39) |
S240F |
probably benign |
Het |
| Sun3 |
T |
A |
11: 8,973,371 (GRCm39) |
K109* |
probably null |
Het |
| Syne1 |
T |
C |
10: 4,991,484 (GRCm39) |
N8410S |
probably benign |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Tmem135 |
T |
C |
7: 88,803,282 (GRCm39) |
N297S |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
| Txnl4b |
A |
G |
8: 110,295,551 (GRCm39) |
|
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,955,162 (GRCm39) |
D12G |
probably benign |
Het |
| Zscan25 |
A |
G |
5: 145,220,502 (GRCm39) |
Y99C |
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 |
|
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'- ATAGCTGTACCGAAGTTGCC -3'
(R):5'- AATGCCTACCCTGGGAGGTAAG -3'
Sequencing Primer
(F):5'- TGTACCGAAGTTGCCGTCCC -3'
(R):5'- TAAGGTCCCCAGGCGAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation