Incidental Mutation 'R5814:Bace1'
| ID |
447690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bace1
|
| Ensembl Gene |
ENSMUSG00000032086 |
| Gene Name |
beta-site APP cleaving enzyme 1 |
| Synonyms |
|
| MMRRC Submission |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.380)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
45749878-45775694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45771562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 458
(D458G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034591]
[ENSMUST00000058720]
[ENSMUST00000078111]
[ENSMUST00000160699]
[ENSMUST00000161187]
[ENSMUST00000162369]
[ENSMUST00000162699]
[ENSMUST00000161203]
|
| AlphaFold |
P56818 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034591
AA Change: D492G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: D492G
| 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 benign
Transcript: ENSMUST00000058720
|
| SMART Domains |
Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078111
AA Change: D458G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: D458G
| 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: ENSMUST00000159970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160699
|
| SMART Domains |
Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
187 |
196 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
235 |
382 |
3e-5 |
SMART |
|
low complexity region
|
428 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
|
RING
|
620 |
664 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161187
|
| SMART Domains |
Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
65 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
465 |
509 |
3.42e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162587
AA Change: D350G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: D350G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp
|
1 |
75 |
3.6e-9 |
PFAM |
|
Pfam:Asp
|
78 |
277 |
3.3e-22 |
PFAM |
|
Pfam:TAXi_C
|
118 |
276 |
1.4e-15 |
PFAM |
|
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161203
|
| SMART Domains |
Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
80 |
227 |
2e-5 |
SMART |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
RING
|
500 |
544 |
3.42e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1485 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably damaging |
Het |
|
| Other mutations in Bace1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Bace1
|
APN |
9 |
45,750,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGAGCTACCGGTTCATCTCC -3'
(R):5'- CCAGAAGCATTGGCAGGTTG -3'
Sequencing Primer
(F):5'- TCTCCAGTGCACGATGAGTTCAG -3'
(R):5'- AAGCATTGGCAGGTTGGTGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation