Incidental Mutation 'IGL00335:Bace1'
| ID |
6177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bace1
|
| Ensembl Gene |
ENSMUSG00000032086 |
| Gene Name |
beta-site APP cleaving enzyme 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.446)
|
| Stock # |
IGL00335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
45749878-45775694 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 45750588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034591]
[ENSMUST00000078111]
|
| AlphaFold |
P56818 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034591
|
| SMART Domains |
Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
45 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
74 |
418 |
3.1e-46 |
PFAM |
|
Pfam:TAXi_C
|
259 |
417 |
1.2e-13 |
PFAM |
|
transmembrane domain
|
455 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078111
|
| SMART Domains |
Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
45 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
74 |
295 |
9.5e-34 |
PFAM |
|
Pfam:TAXi_C
|
290 |
383 |
1.5e-8 |
PFAM |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159499
|
| SMART Domains |
Protein: ENSMUSP00000124773
Gene: ENSMUSG00000032086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp
|
4 |
61 |
4.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182691
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]
PHENOTYPE: Some alleles with a targeted mutation exhibit small body size, postnatal lethality, hyperactivity, decreased anxiety, and abnormal APP processing by neurons, while others appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
| 4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
| Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
| Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
| Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
| Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
| Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
| Other mutations in Bace1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03378:Bace1
|
APN |
9 |
45,770,199 (GRCm39) |
splice site |
probably null |
|
|
R0071:Bace1
|
UTSW |
9 |
45,765,997 (GRCm39) |
intron |
probably benign |
|
|
R1561:Bace1
|
UTSW |
9 |
45,750,492 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1819:Bace1
|
UTSW |
9 |
45,768,460 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2097:Bace1
|
UTSW |
9 |
45,771,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4067:Bace1
|
UTSW |
9 |
45,765,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Bace1
|
UTSW |
9 |
45,766,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Bace1
|
UTSW |
9 |
45,771,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Bace1
|
UTSW |
9 |
45,770,347 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6365:Bace1
|
UTSW |
9 |
45,765,974 (GRCm39) |
nonsense |
probably null |
|
|
R6968:Bace1
|
UTSW |
9 |
45,766,263 (GRCm39) |
splice site |
probably null |
|
|
R7188:Bace1
|
UTSW |
9 |
45,767,393 (GRCm39) |
missense |
probably benign |
|
|
R7517:Bace1
|
UTSW |
9 |
45,771,559 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7560:Bace1
|
UTSW |
9 |
45,767,437 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7729:Bace1
|
UTSW |
9 |
45,769,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Bace1
|
UTSW |
9 |
45,768,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Bace1
|
UTSW |
9 |
45,767,282 (GRCm39) |
intron |
probably benign |
|
|
X0020:Bace1
|
UTSW |
9 |
45,771,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2012-04-20 |
Incidental Mutation