Incidental Mutation 'IGL02048:Apba1'
| ID |
185011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apba1
|
| Ensembl Gene |
ENSMUSG00000024897 |
| Gene Name |
amyloid beta precursor protein binding family A member 1 |
| Synonyms |
Lin-10, Mint1, X11, X11alpha, 6430513E09Rik, Mint |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02048
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
23736251-23926960 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 23915000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025830]
|
| AlphaFold |
B2RUJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025830
|
| SMART Domains |
Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
421 |
N/A |
INTRINSIC |
|
PTB
|
461 |
626 |
9.49e-33 |
SMART |
|
PDZ
|
670 |
748 |
3.09e-15 |
SMART |
|
PDZ
|
762 |
828 |
2.53e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,069,831 (GRCm39) |
D1288N |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,229,383 (GRCm39) |
F372L |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 69,036,186 (GRCm39) |
N158K |
possibly damaging |
Het |
| Arap3 |
T |
C |
18: 38,130,032 (GRCm39) |
E43G |
possibly damaging |
Het |
| Bet1 |
A |
T |
6: 4,082,456 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
G |
7: 80,152,709 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,681,379 (GRCm39) |
I384V |
probably benign |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,257 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,222,271 (GRCm39) |
I480N |
possibly damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,917 (GRCm39) |
K538R |
probably benign |
Het |
| Flna |
G |
T |
X: 73,272,106 (GRCm39) |
T2008K |
probably benign |
Het |
| Hc |
T |
A |
2: 34,886,039 (GRCm39) |
Q1388L |
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,205 (GRCm39) |
S13P |
probably benign |
Het |
| Il1rapl2 |
A |
G |
X: 137,690,398 (GRCm39) |
I288V |
probably benign |
Het |
| Il31 |
C |
T |
5: 123,618,553 (GRCm39) |
V157M |
possibly damaging |
Het |
| N4bp2l1 |
A |
G |
5: 150,500,103 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
C |
7: 49,869,355 (GRCm39) |
I210T |
probably damaging |
Het |
| Or52b3 |
T |
C |
7: 102,204,090 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or7e176 |
T |
A |
9: 20,171,784 (GRCm39) |
I216N |
possibly damaging |
Het |
| Phf1 |
A |
G |
17: 27,153,515 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,165,411 (GRCm39) |
P482S |
probably benign |
Het |
| Ppp6r3 |
T |
G |
19: 3,523,848 (GRCm39) |
M522L |
possibly damaging |
Het |
| Qtrt1 |
T |
C |
9: 21,328,651 (GRCm39) |
L205P |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,658 (GRCm39) |
I140V |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,171 (GRCm39) |
E107K |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,715 (GRCm39) |
F155Y |
possibly damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,174,296 (GRCm39) |
D314G |
probably damaging |
Het |
|
| Other mutations in Apba1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Apba1
|
APN |
19 |
23,894,950 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01991:Apba1
|
APN |
19 |
23,914,836 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02522:Apba1
|
APN |
19 |
23,889,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL02728:Apba1
|
APN |
19 |
23,922,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02942:Apba1
|
APN |
19 |
23,922,335 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03349:Apba1
|
APN |
19 |
23,894,939 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03410:Apba1
|
APN |
19 |
23,914,945 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0052:Apba1
|
UTSW |
19 |
23,893,315 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0052:Apba1
|
UTSW |
19 |
23,893,315 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0084:Apba1
|
UTSW |
19 |
23,889,861 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0379:Apba1
|
UTSW |
19 |
23,912,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Apba1
|
UTSW |
19 |
23,922,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Apba1
|
UTSW |
19 |
23,894,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1291:Apba1
|
UTSW |
19 |
23,895,036 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1681:Apba1
|
UTSW |
19 |
23,913,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Apba1
|
UTSW |
19 |
23,922,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1756:Apba1
|
UTSW |
19 |
23,871,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1866:Apba1
|
UTSW |
19 |
23,870,195 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2076:Apba1
|
UTSW |
19 |
23,870,587 (GRCm39) |
nonsense |
probably null |
|
|
R2217:Apba1
|
UTSW |
19 |
23,871,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:Apba1
|
UTSW |
19 |
23,914,870 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4095:Apba1
|
UTSW |
19 |
23,921,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4529:Apba1
|
UTSW |
19 |
23,913,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Apba1
|
UTSW |
19 |
23,894,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Apba1
|
UTSW |
19 |
23,889,900 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5521:Apba1
|
UTSW |
19 |
23,870,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Apba1
|
UTSW |
19 |
23,913,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7032:Apba1
|
UTSW |
19 |
23,889,825 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7035:Apba1
|
UTSW |
19 |
23,894,931 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7495:Apba1
|
UTSW |
19 |
23,913,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9149:Apba1
|
UTSW |
19 |
23,870,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Apba1
|
UTSW |
19 |
23,923,145 (GRCm39) |
makesense |
probably null |
|
|
Z1176:Apba1
|
UTSW |
19 |
23,921,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation