Incidental Mutation 'IGL01806:Ccdc28a'
| ID |
155676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc28a
|
| Ensembl Gene |
ENSMUSG00000059554 |
| Gene Name |
coiled-coil domain containing 28A |
| Synonyms |
1700009P13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18089424-18110746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18095262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 151
(A151T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052648]
[ENSMUST00000080860]
[ENSMUST00000173243]
[ENSMUST00000174592]
|
| AlphaFold |
Q8CEI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052648
AA Change: A151T
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050107
Gene: ENSMUSG00000059554
AA Change: A151T
| 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 benign
Transcript: ENSMUST00000080860
AA Change: A151T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079671
Gene: ENSMUSG00000059554
AA Change: A151T
| 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 benign
Transcript: ENSMUST00000173243
AA Change: A97T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133585
Gene: ENSMUSG00000059554
AA Change: A97T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
28 |
115 |
1.3e-40 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173962
AA Change: A34T
|
| SMART Domains |
Protein: ENSMUSP00000133848
Gene: ENSMUSG00000059554
AA Change: A34T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4061
|
1 |
52 |
9.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174592
AA Change: A104T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134307
Gene: ENSMUSG00000059554
AA Change: A104T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
35 |
122 |
9.2e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174631
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
| Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
| Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
| Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
| Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
| Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
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 |
|
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 |
|
R4254:Ccdc28a
|
UTSW |
10 |
18,100,683 (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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation