Incidental Mutation 'IGL01991:Apba1'
| ID |
182870 |
| 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 # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
23736251-23926960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23914836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 679
(S679T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025830]
|
| AlphaFold |
B2RUJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025830
AA Change: S679T
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: S679T
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
| Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
| Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
| Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
| Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
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 |
|
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 |
|
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