Incidental Mutation 'R4254:Ccdc28a'
| ID |
321741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc28a
|
| Ensembl Gene |
ENSMUSG00000059554 |
| Gene Name |
coiled-coil domain containing 28A |
| Synonyms |
1700009P13Rik |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18089424-18110746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18100683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052648]
[ENSMUST00000080860]
[ENSMUST00000173243]
[ENSMUST00000174592]
|
| AlphaFold |
Q8CEI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052648
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: L95P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
83 |
173 |
6.8e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080860
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: L95P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
82 |
169 |
2.1e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173243
AA Change: L41P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554
AA Change: L41P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
28 |
115 |
1.3e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174592
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
35 |
122 |
9.2e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.8730 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
| Other mutations in Ccdc28a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Ccdc28a
|
APN |
10 |
18,106,261 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01806:Ccdc28a
|
APN |
10 |
18,095,262 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02403:Ccdc28a
|
APN |
10 |
18,089,931 (GRCm39) |
splice site |
probably benign |
|
|
IGL02547:Ccdc28a
|
APN |
10 |
18,089,894 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0139:Ccdc28a
|
UTSW |
10 |
18,106,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0608:Ccdc28a
|
UTSW |
10 |
18,100,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Ccdc28a
|
UTSW |
10 |
18,106,203 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3861:Ccdc28a
|
UTSW |
10 |
18,100,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Ccdc28a
|
UTSW |
10 |
18,092,016 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5704:Ccdc28a
|
UTSW |
10 |
18,106,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Ccdc28a
|
UTSW |
10 |
18,100,719 (GRCm39) |
nonsense |
probably null |
|
|
R7905:Ccdc28a
|
UTSW |
10 |
18,094,076 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7981:Ccdc28a
|
UTSW |
10 |
18,094,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8958:Ccdc28a
|
UTSW |
10 |
18,089,926 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9111:Ccdc28a
|
UTSW |
10 |
18,100,750 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9363:Ccdc28a
|
UTSW |
10 |
18,094,050 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAGTCCCTTCCTCACAC -3'
(R):5'- TCTGAGCAGTTAAACAGGAGTC -3'
Sequencing Primer
(F):5'- TTCCTCACACAACAGGGTG -3'
(R):5'- CAGGAGTCTAATCCGGAGCAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation