Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Apba3'

273446

Institutional Source

Beutler Lab

Gene Symbol

Apba3

Ensembl Gene

ENSMUSG00000004931

Gene Name

amyloid beta precursor protein binding family A member 3

Synonyms

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

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81102799-81109081 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 81108443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

possibly damaging
Transcript: ENSMUST00000057798
AA Change: T471K

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: T471K

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: ENSMUST00000175040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218146

Predicted Effect

probably null
Transcript: ENSMUST00000218297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220297
AA Change: T471K

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,532,046 (GRCm39)	K899N	probably benign	Het
Acsbg3	T	C	17: 57,183,262 (GRCm39)	M1T	probably null	Het
Adgrv1	G	A	13: 81,647,162 (GRCm39)	S3126L	probably damaging	Het
Apobec4	G	T	1: 152,632,556 (GRCm39)	A195S	probably benign	Het
Asap3	C	T	4: 135,954,886 (GRCm39)	T72I	probably benign	Het
Cand2	T	A	6: 115,762,178 (GRCm39)	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,103,180 (GRCm39)	K19E	probably benign	Het
Cspg4b	A	G	13: 113,454,743 (GRCm39)	E263G	probably benign	Het
Cyp17a1	T	G	19: 46,658,162 (GRCm39)	K250T	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,074,639 (GRCm39)	D712G	probably damaging	Het
Dsg2	T	C	18: 20,724,919 (GRCm39)	W442R	probably damaging	Het
Elavl2	C	T	4: 91,152,325 (GRCm39)	G131R	probably damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,989,264 (GRCm39)	D270G	probably damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Fry	A	T	5: 150,321,663 (GRCm39)	R999S	probably damaging	Het
Gak	G	A	5: 108,730,538 (GRCm39)	T956I	probably benign	Het
Gps2	T	C	11: 69,806,927 (GRCm39)	F21L	probably damaging	Het
Grhl3	C	T	4: 135,283,158 (GRCm39)	W303*	probably null	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Matk	T	A	10: 81,094,131 (GRCm39)	L21Q	probably benign	Het
Mthfr	T	C	4: 148,128,907 (GRCm39)	V160A	probably benign	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Or1j16	A	T	2: 36,530,333 (GRCm39)	Y94F	probably benign	Het
Or2h2	G	T	17: 37,396,957 (GRCm39)	Y33*	probably null	Het
Or7a41	G	A	10: 78,871,014 (GRCm39)	C128Y	possibly damaging	Het
Or9q2	T	A	19: 13,772,568 (GRCm39)	M136L	probably benign	Het
Pcdhb15	T	A	18: 37,608,943 (GRCm39)	V725D	probably benign	Het
Pes1	A	G	11: 3,925,548 (GRCm39)	Y221C	probably damaging	Het
Prkd3	T	C	17: 79,266,535 (GRCm39)	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,624,987 (GRCm39)	E97G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rims1	T	C	1: 22,492,034 (GRCm39)	D842G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf26rt	C	T	6: 76,473,942 (GRCm39)	V225I	probably benign	Het
Rngtt	T	C	4: 33,330,889 (GRCm39)	I164T	probably damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Slco1a8	T	C	6: 141,918,061 (GRCm39)	K605R	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Stxbp5	G	A	10: 9,644,671 (GRCm39)	T960I	probably damaging	Het
Suco	A	T	1: 161,671,565 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,805,893 (GRCm39)	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,539,363 (GRCm39)	*254W	probably null	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Upb1	T	A	10: 75,275,672 (GRCm39)		probably null	Het
Vmn1r32	T	A	6: 66,530,351 (GRCm39)	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	T	C	15: 88,665,050 (GRCm39)	S373P	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp423	A	T	8: 88,507,140 (GRCm39)	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Apba3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Apba3	APN	10	81,108,901 (GRCm39)	missense	probably damaging	1.00
IGL00332:Apba3	APN	10	81,108,901 (GRCm39)	missense	probably damaging	1.00
IGL01577:Apba3	APN	10	81,108,053 (GRCm39)	missense	probably damaging	1.00
IGL01924:Apba3	APN	10	81,108,907 (GRCm39)	missense	probably benign	0.01
IGL02655:Apba3	APN	10	81,108,788 (GRCm39)	missense	probably benign	0.20
IGL03163:Apba3	APN	10	81,105,057 (GRCm39)	splice site	probably null
R1381:Apba3	UTSW	10	81,107,590 (GRCm39)	missense	possibly damaging	0.76
R2073:Apba3	UTSW	10	81,105,128 (GRCm39)	missense	probably benign
R2114:Apba3	UTSW	10	81,108,946 (GRCm39)	missense	probably damaging	1.00
R2196:Apba3	UTSW	10	81,107,542 (GRCm39)	missense	probably damaging	1.00
R4895:Apba3	UTSW	10	81,107,117 (GRCm39)	critical splice donor site	probably null
R4936:Apba3	UTSW	10	81,105,204 (GRCm39)	splice site	probably null
R6576:Apba3	UTSW	10	81,108,925 (GRCm39)	missense	probably benign	0.04
R7141:Apba3	UTSW	10	81,108,889 (GRCm39)	missense	probably damaging	1.00
R7305:Apba3	UTSW	10	81,107,067 (GRCm39)	missense	probably damaging	1.00
R7498:Apba3	UTSW	10	81,104,735 (GRCm39)	missense	possibly damaging	0.55
R7599:Apba3	UTSW	10	81,108,180 (GRCm39)	missense	probably damaging	0.99
R8399:Apba3	UTSW	10	81,104,832 (GRCm39)	missense	probably benign	0.21
R8791:Apba3	UTSW	10	81,105,104 (GRCm39)	missense	probably benign	0.00
R8974:Apba3	UTSW	10	81,109,032 (GRCm39)	missense
R9159:Apba3	UTSW	10	81,106,867 (GRCm39)	missense
X0020:Apba3	UTSW	10	81,106,883 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGTAGGGTGCATAGGAG -3'
(R):5'- AGCAGGCTACAAATCTGAGG -3'

Sequencing Primer
(F):5'- GAGCCCATTAACAGGGTCTC -3'
(R):5'- CAGCCTCACGATTCCAT -3'

Posted On

2015-03-25