Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Apba1'

33076

Institutional Source

Beutler Lab

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

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0052 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

23736251-23926960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23893315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 438 (S438P)

Ref Sequence

ENSEMBL: ENSMUSP00000025830 (fasta)

Gene Model

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

AlphaFold

B2RUJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025830
AA Change: S438P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: S438P

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

Meta Mutation Damage Score

0.1304

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Elp3	A	G	14: 65,768,975 (GRCm39)	*548Q	probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nacc1	A	T	8: 85,402,854 (GRCm39)	V313D	probably benign	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pld4	T	A	12: 112,734,291 (GRCm39)	F386I	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	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
IGL03349:Apba1	APN	19	23,894,939 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGTCCTAACTTTCAGAGCACAC -3'
(R):5'- CCTCAGCATAGCTTTACTACCTGGC -3'

Sequencing Primer
(F):5'- AACTTGAGCGAGCCATTCTG -3'
(R):5'- ATCTTTGGTCTCTGACGAGAAC -3'

Posted On

2013-05-09