Incidental Mutation 'R0052:Apba1'
| ID |
15247 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
23736251-23926960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23893315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 438
(S438P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025830]
|
| AlphaFold |
B2RUJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025830
AA Change: S438P
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: S438P
| 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 |
|
| Meta Mutation Damage Score |
0.1304 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
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 |
|
IGL02048:Apba1
|
APN |
19 |
23,915,000 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
2012-12-17 |
Incidental Mutation