Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Bace1'

204711

Institutional Source

Beutler Lab

Gene Symbol

Bace1

Ensembl Gene

ENSMUSG00000032086

Gene Name

beta-site APP cleaving enzyme 1

Synonyms

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45749878-45775694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45768460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 252 (T252S)

Ref Sequence

ENSEMBL: ENSMUSP00000034591 (fasta)

Gene Model

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

AlphaFold

P56818

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034591
AA Change: T252S

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: T252S

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: ENSMUST00000078111
AA Change: T252S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077249
Gene: ENSMUSG00000032086
AA Change: T252S

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: T110S

SMART Domains

Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: T110S

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

0.1297

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc26a8	A	T	17: 28,903,808 (GRCm39)	F19I	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCTCCTGAACACATTTAGGAAAC -3'
(R):5'- ACCTTAGGGATTGCCTCGTG -3'

Sequencing Primer
(F):5'- CCCCAAGAAATGGCTGAT -3'
(R):5'- GATTGCCTCGTGATCCTGTGC -3'

Posted On

2014-06-23