Incidental Mutation 'IGL01914:Cd24a'
| ID |
179883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd24a
|
| Ensembl Gene |
ENSMUSG00000047139 |
| Gene Name |
CD24a antigen |
| Synonyms |
nectadrin, HSA, Ly-52, heat stable antigen, cluster of differentiation 24 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01914
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
43454433-43460261 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43458699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 79
(S79P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058714]
[ENSMUST00000214476]
|
| AlphaFold |
P24807 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000058714
AA Change: S57P
|
| SMART Domains |
Protein: ENSMUSP00000057983
Gene: ENSMUSG00000047139
AA Change: S57P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
Pfam:CD24
|
26 |
75 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214476
AA Change: S79P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214532
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in slight impairment of B cell development. Mutant erythrocytes have increased tendency to aggregate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
A |
T |
15: 102,459,913 (GRCm39) |
Y67* |
probably null |
Het |
| Atp6v1b2 |
C |
A |
8: 69,548,932 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,464,754 (GRCm39) |
E340K |
possibly damaging |
Het |
| Dtna |
A |
T |
18: 23,730,516 (GRCm39) |
N301I |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,544,069 (GRCm39) |
D45G |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,078,920 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 34,987,053 (GRCm39) |
T1091A |
probably benign |
Het |
| Msto1 |
T |
C |
3: 88,820,210 (GRCm39) |
E82G |
probably benign |
Het |
| Mup11 |
T |
A |
4: 60,615,821 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,256,689 (GRCm39) |
N13K |
probably benign |
Het |
| Nsun7 |
C |
T |
5: 66,433,977 (GRCm39) |
P209L |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,294 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,391 (GRCm39) |
V108I |
probably benign |
Het |
| Or8j3 |
G |
A |
2: 86,029,016 (GRCm39) |
L27F |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,590,693 (GRCm39) |
I27T |
possibly damaging |
Het |
| Prkcd |
T |
C |
14: 30,329,383 (GRCm39) |
E19G |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,529,199 (GRCm39) |
I417N |
probably damaging |
Het |
| Stat1 |
T |
C |
1: 52,165,716 (GRCm39) |
I104T |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,800,226 (GRCm39) |
N251D |
probably damaging |
Het |
| Ttll4 |
C |
T |
1: 74,718,217 (GRCm39) |
H23Y |
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,571 (GRCm39) |
T651S |
probably benign |
Het |
|
| Other mutations in Cd24a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2962:Cd24a
|
UTSW |
10 |
43,455,313 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6738:Cd24a
|
UTSW |
10 |
43,458,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6750:Cd24a
|
UTSW |
10 |
43,458,721 (GRCm39) |
missense |
unknown |
|
|
R7179:Cd24a
|
UTSW |
10 |
43,458,636 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7647:Cd24a
|
UTSW |
10 |
43,458,747 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation