Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Bace1'

316174

Institutional Source

Beutler Lab

Gene Symbol

Bace1

Ensembl Gene

ENSMUSG00000032086

Gene Name

beta-site APP cleaving enzyme 1

Synonyms

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

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

Stock #

R4067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45749878-45775694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45765962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 130 (V130M)

Ref Sequence

ENSEMBL: ENSMUSP00000077249 (fasta)

Gene Model

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

AlphaFold

P56818

Predicted Effect

probably damaging
Transcript: ENSMUST00000034591
AA Change: V130M

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

SMART Domains

Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: V130M

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: V130M

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

SMART Domains

Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: V130M

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: V13M

SMART Domains

Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: V13M

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

0.5098

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,639,401 (GRCm39)	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTGACATTCTGCTCTGG -3'
(R):5'- TGTGTAGCATGCAGTGAGC -3'

Sequencing Primer
(F):5'- TGACATTCTGCTCTGGGTAAC -3'
(R):5'- AGGCAACAGGCTTGATTCTC -3'

Posted On

2015-05-15