Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Apba3'

377577

Institutional Source

Beutler Lab

Gene Symbol

Apba3

Ensembl Gene

ENSMUSG00000004931

Gene Name

amyloid beta (A4) precursor protein-binding, family A, member 3

Synonyms

X11gamma, neuronal munc18-1-interacting protein 3, Mint 3, neuron-specific X11L2 protein, Mint-3, lin-10

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R4895 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

81266960-81273246 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 81271283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [ENSMUST00000046114] [ENSMUST00000057798] [ENSMUST00000218742] [ENSMUST00000219304] [ENSMUST00000220297] [ENSMUST00000219460] [ENSMUST00000219479]

AlphaFold

O88888

Predicted Effect

probably benign
Transcript: ENSMUST00000045744

SMART Domains

Protein: ENSMUSP00000036438
Gene: ENSMUSG00000034917

Domain	Start	End	E-Value	Type
PDZ	20	93	2.81e-18	SMART
low complexity region	119	162	N/A	INTRINSIC
PDZ	196	264	2.71e-11	SMART
low complexity region	297	305	N/A	INTRINSIC
PDZ	378	451	4.97e-19	SMART
SH3	466	539	9.96e-2	SMART
low complexity region	548	559	N/A	INTRINSIC
GuKc	570	756	6.9e-46	SMART
Blast:GuKc	767	898	9e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000046114

SMART Domains

Protein: ENSMUSP00000039951
Gene: ENSMUSG00000034932

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
Pfam:Ribosomal_L37	60	103	4.7e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000057798

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
PTB	213	359	3.03e-40	SMART
PDZ	400	478	3.74e-14	SMART
PDZ	492	557	9.58e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218146

Predicted Effect

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219294

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably null
Transcript: ENSMUST00000220297

Predicted Effect

probably null
Transcript: ENSMUST00000219460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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 an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion in mutants causes abnormalities in colon morphology and physiology, increased circulating blood urea nitrogen, and decreased serum chloride, sodium and potassium levels. Surviving homozygotes display diarrhea, postnatal viability and decreased life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,613,070		probably benign	Het
Abat	G	A	16: 8,615,962	A392T	probably benign	Het
Abca14	G	A	7: 120,247,349		probably null	Het
Abcc6	A	T	7: 45,980,990	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,550,481		probably benign	Het
Adgrf1	G	T	17: 43,310,620	V583L	probably benign	Het
Aftph	T	C	11: 20,696,801	D825G	probably damaging	Het
Ahnak	T	C	19: 9,017,441	V5363A	probably benign	Het
Asb13	T	C	13: 3,643,589	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,414,369	H223Q	probably benign	Het
Best1	A	G	19: 9,992,771	L159P	probably benign	Het
Cacna1h	A	T	17: 25,389,422	M731K	probably damaging	Het
Catspere1	T	A	1: 177,859,861		noncoding transcript	Het
Cenpv	A	T	11: 62,527,520	Y202*	probably null	Het
Cep57	A	T	9: 13,816,153		probably benign	Het
Cfap100	T	A	6: 90,406,102	D363V	possibly damaging	Het
Cluh	A	G	11: 74,667,405	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,663,110		probably null	Het
Dnajc11	T	C	4: 151,979,933	F514L	probably damaging	Het
Efcab3	T	A	11: 105,117,401		probably benign	Het
Eif2b4	T	G	5: 31,192,954	Q8P	probably benign	Het
Epha6	A	T	16: 59,666,555	V1043E	probably benign	Het
Gm11562	G	T	11: 99,620,315	Q20K	unknown	Het
Gm11639	C	T	11: 104,720,286	T318I	probably benign	Het
Gm11639	A	G	11: 104,749,670	D1026G	probably damaging	Het
Gm13762	A	T	2: 88,973,711	F60Y	probably benign	Het
Gm14415	A	T	2: 177,104,321		noncoding transcript	Het
Gm5431	A	G	11: 48,889,028	S634P	probably damaging	Het
Gpld1	C	A	13: 24,979,728	N501K	probably damaging	Het
Gsn	C	T	2: 35,302,578	R513C	probably damaging	Het
Gulp1	T	C	1: 44,788,597	F300L	probably benign	Het
H2afj	T	C	6: 136,808,662	V108A	possibly damaging	Het
Haus3	T	C	5: 34,168,070	R82G	probably benign	Het
Herc2	G	A	7: 56,222,986	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,677,379	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,465,253	I53V	probably benign	Het
Inpp5e	C	T	2: 26,397,912	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367	C491*	probably null	Het
Itpkb	C	A	1: 180,413,895	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,928,416		probably null	Het
Kmt2d	T	C	15: 98,844,487		probably benign	Het
Lamb3	C	T	1: 193,332,314	R594*	probably null	Het
Map3k20	A	G	2: 72,402,356		probably benign	Het
Maz	A	T	7: 127,025,300		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Nbeal1	A	G	1: 60,292,903	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,469,896	Y61H	probably damaging	Het
Npat	T	A	9: 53,570,489	L1166M	probably damaging	Het
Olfr1112	A	C	2: 87,191,848	I54L	probably benign	Het
Olfr1447	C	T	19: 12,900,887	V298M	probably damaging	Het
Olfr190	C	T	16: 59,074,657	C141Y	probably benign	Het
Olfr490	A	C	7: 108,286,595	I177S	probably damaging	Het
Olfr988	A	T	2: 85,352,997	*310K	probably null	Het
Pcdhb3	T	C	18: 37,301,706	F242L	probably damaging	Het
Phip	A	G	9: 82,959,595	V57A	probably benign	Het
Plekha7	A	T	7: 116,189,391		probably null	Het
Pot1a	A	C	6: 25,753,206	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,784,352	P217L	probably damaging	Het
Prepl	A	G	17: 85,081,066	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,575,530	I175V	probably benign	Het
Ranbp6	A	T	19: 29,809,775	I1059N	possibly damaging	Het
Rhag	A	G	17: 40,811,351	Q59R	probably benign	Het
Sema4c	A	C	1: 36,553,570		probably null	Het
Sf3b3	T	C	8: 110,816,024	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,198,857		probably null	Het
Tbrg1	A	T	9: 37,655,079	I54N	probably damaging	Het
Tchh	A	T	3: 93,445,686	E811V	unknown	Het
Tenm3	T	A	8: 48,300,971	D799V	probably damaging	Het
Tlr5	T	C	1: 182,974,199	L342P	probably damaging	Het
Tppp	C	T	13: 74,030,877	R146*	probably null	Het
Trpm4	A	T	7: 45,318,058	M574K	probably damaging	Het
Uggt1	A	T	1: 36,156,264	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,018,886	K1124N	probably damaging	Het
Usf3	A	C	16: 44,221,096	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,318,961	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,259,761	H650N	probably benign	Het
Vmn2r59	T	A	7: 42,045,794	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,537,972	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,826,435	R235*	probably null	Het

Other mutations in Apba3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Apba3	APN	10	81273067	missense	probably damaging	1.00
IGL00332:Apba3	APN	10	81273067	missense	probably damaging	1.00
IGL01577:Apba3	APN	10	81272219	missense	probably damaging	1.00
IGL01924:Apba3	APN	10	81273073	missense	probably benign	0.01
IGL02655:Apba3	APN	10	81272954	missense	probably benign	0.20
IGL03163:Apba3	APN	10	81269223	splice site	probably null
R1381:Apba3	UTSW	10	81271756	missense	possibly damaging	0.76
R2073:Apba3	UTSW	10	81269294	missense	probably benign
R2114:Apba3	UTSW	10	81273112	missense	probably damaging	1.00
R2196:Apba3	UTSW	10	81271708	missense	probably damaging	1.00
R3773:Apba3	UTSW	10	81272609	splice site	probably null
R4936:Apba3	UTSW	10	81269370	splice site	probably null
R6576:Apba3	UTSW	10	81273091	missense	probably benign	0.04
R7141:Apba3	UTSW	10	81273055	missense	probably damaging	1.00
R7305:Apba3	UTSW	10	81271233	missense	probably damaging	1.00
R7498:Apba3	UTSW	10	81268901	missense	possibly damaging	0.55
R7599:Apba3	UTSW	10	81272346	missense	probably damaging	0.99
R8399:Apba3	UTSW	10	81268998	missense	probably benign	0.21
R8791:Apba3	UTSW	10	81269270	missense	probably benign	0.00
R8974:Apba3	UTSW	10	81273198	missense
R9159:Apba3	UTSW	10	81271033	missense
X0020:Apba3	UTSW	10	81271049	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATCTTCGGGGCGAAATACC -3'
(R):5'- ATCTTGTAGAGTCGCCGCTG -3'

Sequencing Primer
(F):5'- GCGAAATACCTGGGCTCCAC -3'
(R):5'- AGTTGTCCTCCTGGCCAG -3'

Posted On

2016-03-17