Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Bace1'

374758

Institutional Source

Beutler Lab

Gene Symbol

Bace1

Ensembl Gene

ENSMUSG00000032086

Gene Name

beta-site APP cleaving enzyme 1

Synonyms

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R4864 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

45749878-45775694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45766109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 179 (I179F)

Ref Sequence

ENSEMBL: ENSMUSP00000034591 (fasta)

Gene Model

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

AlphaFold

P56818

Predicted Effect

probably damaging
Transcript: ENSMUST00000034591
AA Change: I179F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: I179F

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 damaging
Transcript: ENSMUST00000078111
AA Change: I179F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: I179F

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

noncoding transcript
Transcript: ENSMUST00000162209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162559

Predicted Effect

unknown
Transcript: ENSMUST00000162587
AA Change: I62F

SMART Domains

Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: I62F

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

Meta Mutation Damage Score

0.9353

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTCCAGCACATATCGAGACCTC -3'
(R):5'- CACACCCAGCAGTTTTGAAAAGTTTAG -3'

Sequencing Primer
(F):5'- GCACATATCGAGACCTCCGAAAG -3'
(R):5'- GGATTAAACTCATGACTGCTGG -3'

Posted On

2016-03-17