Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Bace1'

595718

Institutional Source

Beutler Lab

Gene Symbol

Bace1

Ensembl Gene

ENSMUSG00000032086

Gene Name

beta-site APP cleaving enzyme 1

Synonyms

MMRRC Submission

045785-MU

Accession Numbers

Essential gene?

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

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45749878-45775694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45769743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 296 (R296C)

Ref Sequence

ENSEMBL: ENSMUSP00000034591 (fasta)

Gene Model

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

AlphaFold

P56818

Predicted Effect

probably damaging
Transcript: ENSMUST00000034591
AA Change: R296C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086
AA Change: R296C

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

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

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

SMART Domains

Protein: ENSMUSP00000124960
Gene: ENSMUSG00000032086
AA Change: R154C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	G	2: 127,028,710 (GRCm39)	D163A	possibly damaging	Het
Abce1	A	T	8: 80,414,537 (GRCm39)	I454N	probably damaging	Het
Acaca	A	G	11: 84,262,339 (GRCm39)	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,885,917 (GRCm39)	T19M	probably benign	Het
Agmo	T	A	12: 37,464,974 (GRCm39)	S417T	probably benign	Het
Akap8l	T	C	17: 32,552,068 (GRCm39)	E403G	probably damaging	Het
Art5	C	T	7: 101,747,711 (GRCm39)	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,161,204 (GRCm39)	T681A	probably benign	Het
Atp11b	A	G	3: 35,832,256 (GRCm39)	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,629,829 (GRCm39)	E80G	probably benign	Het
AW551984	G	A	9: 39,511,071 (GRCm39)	P172L	possibly damaging	Het
Ccser1	T	A	6: 61,288,840 (GRCm39)	H334Q	probably benign	Het
Chtf18	C	T	17: 25,942,491 (GRCm39)	R449H	probably damaging	Het
Cit	A	G	5: 116,122,881 (GRCm39)	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,612,474 (GRCm39)	I524T	probably benign	Het
Dctn1	T	A	6: 83,160,042 (GRCm39)	I94N	probably damaging	Het
Dnhd1	A	T	7: 105,354,472 (GRCm39)	D3078V	probably damaging	Het
Dock7	G	A	4: 98,943,683 (GRCm39)	P520S		Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Eprs1	T	A	1: 185,145,366 (GRCm39)	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 44,744,797 (GRCm39)	T224A	probably damaging	Het
Flt1	T	A	5: 147,637,177 (GRCm39)	T39S	probably benign	Het
Fxyd1	T	C	7: 30,752,896 (GRCm39)	Y33C	probably damaging	Het
Gab2	T	A	7: 96,950,633 (GRCm39)	V442E	probably damaging	Het
Ganab	A	G	19: 8,892,076 (GRCm39)	D800G	probably benign	Het
Gata4	C	A	14: 63,478,186 (GRCm39)	A138S	probably benign	Het
Golga4	A	G	9: 118,385,131 (GRCm39)	H751R	possibly damaging	Het
H1f6	A	G	13: 23,880,455 (GRCm39)	R203G	possibly damaging	Het
Htra4	A	G	8: 25,527,093 (GRCm39)	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,161,954 (GRCm39)	Y72N	probably damaging	Het
Iqsec3	T	C	6: 121,360,940 (GRCm39)	K973E	probably damaging	Het
Khdc1b	C	A	1: 21,455,065 (GRCm39)	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,225,474 (GRCm39)	V666E	probably damaging	Het
Mettl25	T	A	10: 105,601,871 (GRCm39)	Y528F	probably benign	Het
Mms19	A	T	19: 41,940,904 (GRCm39)	Y619*	probably null	Het
Nlrp12	A	C	7: 3,277,020 (GRCm39)		probably null	Het
Nol10	C	T	12: 17,474,676 (GRCm39)	L623F	possibly damaging	Het
Oas1g	A	G	5: 121,024,063 (GRCm39)	F82S	probably damaging	Het
Or1j8	T	G	2: 36,191,772 (GRCm39)	S74A	probably benign	Het
Or5k3	C	T	16: 58,969,570 (GRCm39)	A119V	probably damaging	Het
Or8g18	G	A	9: 39,149,546 (GRCm39)	P58L	probably benign	Het
Oxr1	G	A	15: 41,686,863 (GRCm39)	E582K	probably damaging	Het
Pdia3	A	G	2: 121,262,838 (GRCm39)	D268G	possibly damaging	Het
Pramel13	T	C	4: 144,119,434 (GRCm39)	S378G	probably damaging	Het
Rcor3	A	G	1: 191,786,078 (GRCm39)	Y387H	probably damaging	Het
Rigi	T	A	4: 40,206,034 (GRCm39)	I853F	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Rsl1	T	C	13: 67,330,284 (GRCm39)	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,324,606 (GRCm39)	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985 (GRCm39)	A24V	probably benign	Het
Slc22a8	A	G	19: 8,571,323 (GRCm39)	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,072,044 (GRCm39)	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,425,248 (GRCm39)	T599S	probably damaging	Het
Spata31d1e	C	T	13: 59,889,437 (GRCm39)	M794I	not run	Het
St18	T	A	1: 6,872,761 (GRCm39)	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,589 (GRCm39)	R86K	probably damaging	Het
Tectb	G	A	19: 55,181,104 (GRCm39)	V148M		Het
Tgfb2	C	A	1: 186,362,954 (GRCm39)	G290V	possibly damaging	Het
Tgm7	T	C	2: 120,924,191 (GRCm39)	H577R	probably benign	Het
Tle2	T	C	10: 81,422,981 (GRCm39)	S460P	probably damaging	Het
Tmem221	C	A	8: 72,011,446 (GRCm39)	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 61,212,183 (GRCm39)	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,728,964 (GRCm39)	K75E	probably benign	Het
Trip10	G	A	17: 57,569,442 (GRCm39)	G488S	probably damaging	Het
Usp34	A	C	11: 23,399,268 (GRCm39)	K2419T		Het
Vps13d	T	C	4: 144,801,622 (GRCm39)	Q3532R		Het
Vps4a	A	T	8: 107,767,529 (GRCm39)	I163L	probably damaging	Het
Wrn	T	C	8: 33,814,454 (GRCm39)	H330R	probably benign	Het
Xpr1	T	C	1: 155,188,618 (GRCm39)	I341V	probably benign	Het
Zfyve9	T	C	4: 108,548,973 (GRCm39)	E105G	probably benign	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
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
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'- GATTTAGAGAACACCTACCCGC -3'
(R):5'- TGGCCTCATAAAGCTGTGAG -3'

Sequencing Primer
(F):5'- AGTACTTACCAAGTGCCTGGGATC -3'
(R):5'- AGTGTGACTGTCACTGAC -3'

Posted On

2019-11-12