Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02522:Apba1'

296929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apba1

Ensembl Gene

ENSMUSG00000024897

Gene Name

amyloid beta (A4) precursor protein binding, family A, member 1

Synonyms

6430513E09Rik, Lin-10, X11, Mint, Mint1, X11alpha

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02522

Quality Score

Status

Chromosome

Chromosomal Location

23758876-23949597 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23912445 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025830]

Predicted Effect

probably benign
Transcript: ENSMUST00000025830

SMART Domains

Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897

Domain	Start	End	E-Value	Type
low complexity region	40	47	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
low complexity region	404	421	N/A	INTRINSIC
PTB	461	626	9.49e-33	SMART
PDZ	670	748	3.09e-15	SMART
PDZ	762	828	2.53e-11	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 79,067,799	S228P	probably benign	Het
Arel1	T	C	12: 84,927,910	D486G	probably damaging	Het
BC030867	T	C	11: 102,257,920	S386P	possibly damaging	Het
Celf1	T	C	2: 91,009,301	V357A	possibly damaging	Het
Chd6	T	C	2: 160,965,796	S1833G	probably benign	Het
Ctsa	T	C	2: 164,839,141		probably benign	Het
Dclk2	G	A	3: 86,920,116	P19S	probably benign	Het
Dpp10	T	C	1: 123,423,652	H308R	probably benign	Het
Dst	A	T	1: 34,250,700		probably benign	Het
Enpp2	A	T	15: 54,898,940	M201K	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Grip1	A	G	10: 119,931,249	D93G	probably damaging	Het
Hipk3	T	C	2: 104,471,331	K172R	probably damaging	Het
Iqgap3	A	G	3: 88,108,398	N29S	possibly damaging	Het
Lyst	T	C	13: 13,634,705	V320A	possibly damaging	Het
Magi1	T	C	6: 93,678,636	D1127G	possibly damaging	Het
Pkhd1l1	A	T	15: 44,555,902	D2921V	possibly damaging	Het
Pla2r1	T	A	2: 60,428,669	Y1125F	probably benign	Het
Psg20	T	A	7: 18,682,431	L253F	probably benign	Het
Rdx	A	G	9: 52,068,204	K209R	possibly damaging	Het
Rpsa	A	T	9: 120,131,055	Q228L	possibly damaging	Het
Slc10a5	T	C	3: 10,335,121	I160V	probably benign	Het
Tec	C	T	5: 72,789,172	V71I	probably benign	Het
Tln1	T	C	4: 43,540,612	E1463G	probably benign	Het
Trim12a	C	T	7: 104,300,831		probably null	Het
Vcan	G	T	13: 89,704,849	T664K	probably benign	Het

Other mutations in Apba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Apba1	APN	19	23917586	missense	possibly damaging	0.95
IGL01991:Apba1	APN	19	23937472	missense	possibly damaging	0.80
IGL02048:Apba1	APN	19	23937636	splice site	probably null
IGL02728:Apba1	APN	19	23944905	missense	possibly damaging	0.93
IGL02942:Apba1	APN	19	23944971	missense	possibly damaging	0.78
IGL03349:Apba1	APN	19	23917575	missense	probably benign	0.02
IGL03410:Apba1	APN	19	23937581	missense	possibly damaging	0.67
R0052:Apba1	UTSW	19	23915951	missense	possibly damaging	0.90
R0052:Apba1	UTSW	19	23915951	missense	possibly damaging	0.90
R0084:Apba1	UTSW	19	23912497	missense	possibly damaging	0.68
R0379:Apba1	UTSW	19	23934830	missense	probably damaging	1.00
R0423:Apba1	UTSW	19	23944998	missense	probably damaging	1.00
R1132:Apba1	UTSW	19	23917553	missense	possibly damaging	0.83
R1291:Apba1	UTSW	19	23917672	missense	probably damaging	0.97
R1681:Apba1	UTSW	19	23936561	missense	probably damaging	1.00
R1714:Apba1	UTSW	19	23944952	missense	possibly damaging	0.67
R1756:Apba1	UTSW	19	23893692	missense	possibly damaging	0.83
R1866:Apba1	UTSW	19	23892831	missense	probably benign	0.22
R2076:Apba1	UTSW	19	23893223	nonsense	probably null
R2217:Apba1	UTSW	19	23893962	missense	probably damaging	0.99
R3907:Apba1	UTSW	19	23937506	missense	probably damaging	0.96
R4095:Apba1	UTSW	19	23944024	missense	probably benign	0.00
R4529:Apba1	UTSW	19	23936535	missense	probably damaging	1.00
R4557:Apba1	UTSW	19	23917592	missense	probably damaging	1.00
R4972:Apba1	UTSW	19	23912536	missense	probably benign	0.24
R5521:Apba1	UTSW	19	23893593	missense	probably damaging	1.00
R6539:Apba1	UTSW	19	23936560	missense	probably damaging	1.00
R7032:Apba1	UTSW	19	23912461	missense	probably benign	0.20
R7035:Apba1	UTSW	19	23917567	missense	possibly damaging	0.88
R7495:Apba1	UTSW	19	23936599	critical splice donor site	probably null
Z1176:Apba1	UTSW	19	23944115	missense	probably damaging	1.00

Posted On

2015-04-16