Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Apba3'

380394

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

042536-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

R4936 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

81266960-81273246 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 81269370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039951 (fasta)

Gene Model

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

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 null
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 benign
Transcript: ENSMUST00000057798
AA Change: P159L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: P159L

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 benign
Transcript: ENSMUST00000220297
AA Change: P159L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,315	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,944,264	M775K	probably damaging	Het
Actn1	T	G	12: 80,172,998	I700L	probably benign	Het
Adam5	T	C	8: 24,786,271	Y460C	probably damaging	Het
Akna	C	T	4: 63,395,265	G207E	probably damaging	Het
Ank2	T	A	3: 126,955,039	H527L	possibly damaging	Het
Anks1	C	A	17: 27,988,805	N383K	probably damaging	Het
Atp9b	C	A	18: 80,736,093	V1121F	possibly damaging	Het
Bsn	T	C	9: 108,111,761	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,840,457	D266G	probably damaging	Het
Cep55	A	G	19: 38,071,754		probably null	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Ckb	T	C	12: 111,671,230	K156E	probably benign	Het
Cln3	T	A	7: 126,575,221	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,079,937	F479S	probably damaging	Het
Col1a1	A	G	11: 94,947,132	D826G	unknown	Het
Cyp27a1	T	C	1: 74,735,405	V194A	probably benign	Het
Dis3l2	C	T	1: 87,044,168	P643S	probably benign	Het
Dpf3	T	C	12: 83,331,966	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,192,897	G27D	probably benign	Het
Eif4a1	T	G	11: 69,672,425		probably benign	Het
Espl1	A	T	15: 102,304,937	D566V	probably damaging	Het
Ext2	T	A	2: 93,813,679	R86*	probably null	Het
Fasn	A	T	11: 120,816,085	F914I	probably damaging	Het
Fbf1	A	G	11: 116,152,552	L477P	probably benign	Het
Fsd1	A	T	17: 55,996,452	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,985,040	S3706T	probably benign	Het
Gabra5	A	T	7: 57,408,799	N400K	probably benign	Het
Gimap8	G	T	6: 48,656,134	G296W	probably damaging	Het
Gli2	A	G	1: 118,836,140	V1427A	probably benign	Het
Gm7334	A	T	17: 50,698,827	Y47F	probably damaging	Het
Gm8674	T	G	13: 49,900,755		noncoding transcript	Het
Gmeb2	G	T	2: 181,254,246	T377K	probably benign	Het
Gp9	T	A	6: 87,779,247	D81E	probably benign	Het
Il5ra	T	A	6: 106,738,162	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,428,961	N470K	possibly damaging	Het
Lfng	G	T	5: 140,612,395		probably null	Het
Lpo	A	G	11: 87,810,340	I430T	probably benign	Het
Lrrc31	C	T	3: 30,689,268	D183N	probably damaging	Het
Meis2	T	C	2: 115,864,412	T410A	probably benign	Het
Myo6	A	G	9: 80,307,681	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,169,840	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,613,982	V251M	probably damaging	Het
Nmbr	C	A	10: 14,766,986	H96Q	probably damaging	Het
Nop14	C	T	5: 34,652,393	R256H	probably damaging	Het
Nqo2	T	A	13: 33,981,518	Y133N	probably damaging	Het
Olfr1153	A	G	2: 87,896,813	I213V	probably benign	Het
Olfr1366	T	C	13: 21,537,187	I273V	probably benign	Het
Pbld2	C	A	10: 63,052,238	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,342,149	G113*	probably null	Het
Pcdhb7	G	T	18: 37,342,150	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,195,026	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,185,022		probably null	Het
Prdm8	G	T	5: 98,185,023		probably null	Het
Prkg1	T	C	19: 30,586,375	Y479C	probably benign	Het
Pudp	T	C	18: 50,568,468	T65A	probably benign	Het
Rbbp6	C	T	7: 122,999,703		probably benign	Het
Rcc1	C	G	4: 132,335,735	V187L	probably damaging	Het
Rims2	T	A	15: 39,437,728	M285K	probably damaging	Het
Rtkn2	T	C	10: 68,041,915	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,780	S169R	probably damaging	Het
Sardh	T	C	2: 27,228,241		probably null	Het
Slc24a2	A	T	4: 87,227,347	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,681,992	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,163,548	R408G	probably damaging	Het
Slc44a5	T	G	3: 154,253,716	I348S	probably damaging	Het
Slc8a2	A	T	7: 16,134,175	K111*	probably null	Het
Smc5	A	G	19: 23,234,003	V589A	probably damaging	Het
Thbd	A	T	2: 148,407,735	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,678,145	M541T	probably benign	Het
Tie1	T	A	4: 118,484,771		silent	Het
Tln1	A	G	4: 43,547,522	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,765,977	L1191*	probably null	Het
Tubb2a	A	C	13: 34,075,257	Y183*	probably null	Het
Ubr4	T	A	4: 139,396,566	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,304,065	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,736,198	S624R	probably benign	Het
Wwox	G	A	8: 114,706,358	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804	K546E	probably damaging	Het
Xirp2	T	A	2: 67,509,819	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,559,464	I1175V	probably benign	Het
Zfp646	T	A	7: 127,881,761	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,821,268	C245*	probably null	Het
Zfp827	T	C	8: 79,061,183	V326A	probably benign	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
R4895:Apba3	UTSW	10	81271283	critical splice donor 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'- CTGGTTCAGCAGCTAGAAGC -3'
(R):5'- CCGGCTCTGGAAGATAAGAG -3'

Sequencing Primer
(F):5'- TTGCTACCGGCCAAGGACTTG -3'
(R):5'- AGGTGCAGGGCTGAGTC -3'

Posted On

2016-04-15