Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Bace1'

420593

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: 0.412) question?

Stock #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

45838580-45864399 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 45858901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000058720] [ENSMUST00000078111] [ENSMUST00000161187] [ENSMUST00000161203]

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 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 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: ENSMUST00000159970

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162559

Predicted Effect

probably null
Transcript: ENSMUST00000162587

SMART Domains

Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086

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: ENSMUST00000216609

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,632	I261N	probably benign	Het
Caprin2	G	T	6: 148,877,854	Q152K	probably benign	Het
Cdh16	C	T	8: 104,619,285	D285N	probably benign	Het
Cnnm2	G	A	19: 46,878,034	A874T	possibly damaging	Het
Dhx38	A	T	8: 109,559,090		probably null	Het
Dnhd1	A	C	7: 105,713,733	E3834A	possibly damaging	Het
Erc2	A	C	14: 28,011,723	S585R	probably damaging	Het
Gli3	A	G	13: 15,644,420	E269G	probably damaging	Het
Gpr161	T	C	1: 165,310,508	L204P	probably damaging	Het
Hp	A	G	8: 109,575,707	V203A	probably damaging	Het
Krtap6-5	A	T	16: 89,047,789	C19S	unknown	Het
Lce1i	A	T	3: 92,777,726	S48T	unknown	Het
Lrp2	A	T	2: 69,431,152	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,419,048		probably benign	Het
Olfr1049	T	A	2: 86,255,019	I225L	possibly damaging	Het
Olfr1186	T	A	2: 88,526,154	Y190*	probably null	Het
Olfr357	T	C	2: 36,996,903	F31S	probably damaging	Het
Papola	G	T	12: 105,809,433		probably null	Het
Prss23	T	C	7: 89,510,144	D239G	probably damaging	Het
Setd2	A	G	9: 110,553,152	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,381,443	L56V	probably damaging	Het
Ski	A	G	4: 155,160,872	S300P	probably benign	Het
Srebf2	T	C	15: 82,169,788	S17P	probably damaging	Het
Svs5	C	A	2: 164,333,340	H37Q	probably benign	Het
Tbx21	A	G	11: 97,114,741	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,109,702	S830R	probably damaging	Het
Thsd1	A	T	8: 22,243,778	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,224,312	M1L	probably benign	Het
Ttll7	T	C	3: 146,909,653	F291L	probably benign	Het
Ttn	A	G	2: 76,769,563	V10762A	probably damaging	Het

Other mutations in Bace1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Bace1	APN	9	45839290	critical splice donor site	probably null
R0071:Bace1	UTSW	9	45854699	intron	probably benign
R1561:Bace1	UTSW	9	45839194	missense	probably benign	0.08
R1819:Bace1	UTSW	9	45857162	missense	possibly damaging	0.48
R2097:Bace1	UTSW	9	45860222	missense	probably benign	0.00
R4067:Bace1	UTSW	9	45854664	missense	probably damaging	1.00
R4864:Bace1	UTSW	9	45854811	missense	probably damaging	1.00
R5814:Bace1	UTSW	9	45860264	missense	probably damaging	1.00
R5818:Bace1	UTSW	9	45859049	missense	possibly damaging	0.94
R6365:Bace1	UTSW	9	45854676	nonsense	probably null
R6968:Bace1	UTSW	9	45854965	splice site	probably null
R7188:Bace1	UTSW	9	45856095	missense	probably benign
R7517:Bace1	UTSW	9	45860261	missense	probably benign	0.32
R7560:Bace1	UTSW	9	45856139	missense	possibly damaging	0.50
R7729:Bace1	UTSW	9	45858445	missense	probably damaging	1.00
R8222:Bace1	UTSW	9	45857193	missense	probably damaging	1.00
R9268:Bace1	UTSW	9	45855984	intron	probably benign
X0020:Bace1	UTSW	9	45860182	missense	probably damaging	0.96

Posted On

2016-08-02