Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Apba1'

419610

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apba1

Ensembl Gene

ENSMUSG00000024897

Gene Name

amyloid beta precursor protein binding family A member 1

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

23736251-23926960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23894939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 458 (E458D)

Ref Sequence

ENSEMBL: ENSMUSP00000025830 (fasta)

Gene Model

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

AlphaFold

B2RUJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000025830
AA Change: E458D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: E458D

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,455 (GRCm39)	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,558,249 (GRCm39)	R172*	probably null	Het
Atg2a	T	A	19: 6,308,054 (GRCm39)	V1590D	possibly damaging	Het
Atp13a4	A	G	16: 29,275,489 (GRCm39)	S332P	probably benign	Het
Atp8b2	A	T	3: 89,865,124 (GRCm39)	F163I	probably damaging	Het
Azin2	A	T	4: 128,839,907 (GRCm39)	Y228*	probably null	Het
Cd109	C	T	9: 78,543,767 (GRCm39)	H104Y	probably benign	Het
Ces2a	G	T	8: 105,460,712 (GRCm39)	L3F	probably damaging	Het
Crebbp	A	G	16: 3,935,222 (GRCm39)	V889A	possibly damaging	Het
Crim1	A	T	17: 78,662,579 (GRCm39)	K801*	probably null	Het
Cxcr1	T	C	1: 74,231,687 (GRCm39)	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,587,158 (GRCm39)	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,632,128 (GRCm39)	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,796,256 (GRCm39)	W761R	probably damaging	Het
Dgki	C	T	6: 37,074,562 (GRCm39)		probably null	Het
Dnase1l3	T	C	14: 7,984,146 (GRCm38)	T89A	probably benign	Het
Dock4	C	A	12: 40,783,309 (GRCm39)	Q748K	probably benign	Het
Elmo3	A	G	8: 106,033,020 (GRCm39)	E68G	possibly damaging	Het
Fer1l4	C	A	2: 155,886,654 (GRCm39)	E692*	probably null	Het
Fkbp9	T	A	6: 56,826,703 (GRCm39)	M101K	probably damaging	Het
Grin1	C	A	2: 25,200,448 (GRCm39)	V225L	probably benign	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Heatr5b	C	A	17: 79,062,749 (GRCm39)	K1933N	probably benign	Het
Hsdl1	A	T	8: 120,292,436 (GRCm39)	S260T	probably benign	Het
Hspg2	T	C	4: 137,287,833 (GRCm39)		probably benign	Het
Ift172	A	T	5: 31,441,474 (GRCm39)	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,727,850 (GRCm39)		noncoding transcript	Het
Ism1	C	T	2: 139,573,895 (GRCm39)	R82*	probably null	Het
Lrch3	A	G	16: 32,775,694 (GRCm39)	T187A	probably damaging	Het
Ltbr	T	A	6: 125,289,329 (GRCm39)	D160V	probably damaging	Het
Lypd11	T	A	7: 24,422,261 (GRCm39)	S163C	probably damaging	Het
Mark3	A	T	12: 111,594,684 (GRCm39)	K353I	probably benign	Het
Mrm3	A	T	11: 76,140,772 (GRCm39)	H260L	probably damaging	Het
Nckap1	T	C	2: 80,355,904 (GRCm39)	Q627R	probably benign	Het
Neb	T	A	2: 52,168,964 (GRCm39)	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,142,295 (GRCm39)	T29A	probably benign	Het
Ofcc1	C	T	13: 40,226,228 (GRCm39)	G768D	probably benign	Het
Or5k17	T	C	16: 58,746,323 (GRCm39)	M204V	probably benign	Het
Pde8b	T	C	13: 95,179,551 (GRCm39)		probably benign	Het
Pld4	A	T	12: 112,734,313 (GRCm39)	Q393L	probably benign	Het
Prss23	T	C	7: 89,159,065 (GRCm39)	I335V	probably benign	Het
Prune2	A	G	19: 17,100,710 (GRCm39)	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,331 (GRCm39)	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936 (GRCm39)	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,056,865 (GRCm39)	Q126R	possibly damaging	Het
Slc35e1	A	T	8: 73,237,696 (GRCm39)	Y382N	probably damaging	Het
Snrpn	C	T	7: 59,635,613 (GRCm39)	G129D	probably damaging	Het
Spag9	A	T	11: 93,984,335 (GRCm39)	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,161,542 (GRCm39)	N102D	possibly damaging	Het
Tex21	A	T	12: 76,268,365 (GRCm39)	I139N	probably benign	Het
Trgc2	T	A	13: 19,489,346 (GRCm39)	T129S	probably benign	Het
Trim21	T	C	7: 102,212,484 (GRCm39)	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,213,703 (GRCm39)	H96Q	probably benign	Het

Other mutations in Apba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Apba1	APN	19	23,894,950 (GRCm39)	missense	possibly damaging	0.95
IGL01991:Apba1	APN	19	23,914,836 (GRCm39)	missense	possibly damaging	0.80
IGL02048:Apba1	APN	19	23,915,000 (GRCm39)	splice site	probably null
IGL02522:Apba1	APN	19	23,889,809 (GRCm39)	splice site	probably benign
IGL02728:Apba1	APN	19	23,922,269 (GRCm39)	missense	possibly damaging	0.93
IGL02942:Apba1	APN	19	23,922,335 (GRCm39)	missense	possibly damaging	0.78
IGL03410:Apba1	APN	19	23,914,945 (GRCm39)	missense	possibly damaging	0.67
R0052:Apba1	UTSW	19	23,893,315 (GRCm39)	missense	possibly damaging	0.90
R0052:Apba1	UTSW	19	23,893,315 (GRCm39)	missense	possibly damaging	0.90
R0084:Apba1	UTSW	19	23,889,861 (GRCm39)	missense	possibly damaging	0.68
R0379:Apba1	UTSW	19	23,912,194 (GRCm39)	missense	probably damaging	1.00
R0423:Apba1	UTSW	19	23,922,362 (GRCm39)	missense	probably damaging	1.00
R1132:Apba1	UTSW	19	23,894,917 (GRCm39)	missense	possibly damaging	0.83
R1291:Apba1	UTSW	19	23,895,036 (GRCm39)	missense	probably damaging	0.97
R1681:Apba1	UTSW	19	23,913,925 (GRCm39)	missense	probably damaging	1.00
R1714:Apba1	UTSW	19	23,922,316 (GRCm39)	missense	possibly damaging	0.67
R1756:Apba1	UTSW	19	23,871,056 (GRCm39)	missense	possibly damaging	0.83
R1866:Apba1	UTSW	19	23,870,195 (GRCm39)	missense	probably benign	0.22
R2076:Apba1	UTSW	19	23,870,587 (GRCm39)	nonsense	probably null
R2217:Apba1	UTSW	19	23,871,326 (GRCm39)	missense	probably damaging	0.99
R3907:Apba1	UTSW	19	23,914,870 (GRCm39)	missense	probably damaging	0.96
R4095:Apba1	UTSW	19	23,921,388 (GRCm39)	missense	probably benign	0.00
R4529:Apba1	UTSW	19	23,913,899 (GRCm39)	missense	probably damaging	1.00
R4557:Apba1	UTSW	19	23,894,956 (GRCm39)	missense	probably damaging	1.00
R4972:Apba1	UTSW	19	23,889,900 (GRCm39)	missense	probably benign	0.24
R5521:Apba1	UTSW	19	23,870,957 (GRCm39)	missense	probably damaging	1.00
R6539:Apba1	UTSW	19	23,913,924 (GRCm39)	missense	probably damaging	1.00
R7032:Apba1	UTSW	19	23,889,825 (GRCm39)	missense	probably benign	0.20
R7035:Apba1	UTSW	19	23,894,931 (GRCm39)	missense	possibly damaging	0.88
R7495:Apba1	UTSW	19	23,913,963 (GRCm39)	critical splice donor site	probably null
R9149:Apba1	UTSW	19	23,870,782 (GRCm39)	missense	probably damaging	1.00
R9288:Apba1	UTSW	19	23,923,145 (GRCm39)	makesense	probably null
Z1176:Apba1	UTSW	19	23,921,479 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02