Incidental Mutation 'R2217:Apba1'
ID |
241240 |
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 |
040219-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2217 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
23736251-23926960 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23871326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 386
(M386T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025830]
|
AlphaFold |
B2RUJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025830
AA Change: M386T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025830 Gene: ENSMUSG00000024897 AA Change: M386T
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,709,128 (GRCm39) |
K232E |
probably benign |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,647,368 (GRCm39) |
Y809C |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,560,478 (GRCm39) |
L823P |
probably damaging |
Het |
Crb3 |
T |
C |
17: 57,372,090 (GRCm39) |
S46P |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,036,601 (GRCm39) |
R1058H |
probably damaging |
Het |
Ehd1 |
T |
A |
19: 6,348,502 (GRCm39) |
D493E |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,992,287 (GRCm39) |
M328K |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,240,586 (GRCm39) |
T494S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,145,138 (GRCm39) |
V830I |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,973,983 (GRCm39) |
H487Q |
possibly damaging |
Het |
Myh14 |
G |
A |
7: 44,283,800 (GRCm39) |
P735S |
probably damaging |
Het |
Nfkb2 |
T |
C |
19: 46,296,163 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,076,113 (GRCm39) |
V671A |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Pak5 |
A |
G |
2: 135,958,123 (GRCm39) |
S322P |
probably damaging |
Het |
Pank2 |
A |
G |
2: 131,124,601 (GRCm39) |
|
probably null |
Het |
Phf6 |
A |
T |
X: 52,031,525 (GRCm39) |
I272F |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,480,056 (GRCm39) |
L1409P |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,864,173 (GRCm39) |
E227K |
unknown |
Het |
Ptger1 |
C |
T |
8: 84,395,357 (GRCm39) |
T278I |
probably benign |
Het |
Slc20a2 |
C |
A |
8: 23,050,532 (GRCm39) |
S250R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,672 (GRCm39) |
T285A |
probably damaging |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Slf1 |
T |
A |
13: 77,194,825 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,465,389 (GRCm39) |
T373A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Trpm2 |
T |
A |
10: 77,777,016 (GRCm39) |
D427V |
probably damaging |
Het |
Vax2 |
A |
T |
6: 83,714,871 (GRCm39) |
Y262F |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
Zfp27 |
A |
G |
7: 29,595,536 (GRCm39) |
L143P |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCATGAGTTCGCAGAGC -3'
(R):5'- TGGATGAAACTACCACGGGG -3'
Sequencing Primer
(F):5'- ATGAGTTCGCAGAGCCTCGAC -3'
(R):5'- AACTACCACGGGGAGGTGC -3'
|
Posted On |
2014-10-15 |