Incidental Mutation 'R4557:Apba1'
| ID |
341931 |
| 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 |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
23736251-23926960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23894956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 464
(I464N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025830]
|
| AlphaFold |
B2RUJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025830
AA Change: I464N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: I464N
| 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 |
0.5364 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (49/50) |
| 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 |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
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 |
|
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 |
|
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'- GATTACAGGTCTGGCTAAGAGAC -3'
(R):5'- AAGAGCTGTGGGTTGACACTG -3'
Sequencing Primer
(F):5'- TTTTTACGATTGGGCTCTGATTC -3'
(R):5'- GTTGACACTGCCTGCTCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation