Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Apba3'

581221

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

Accession Numbers

Essential gene?

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

Stock #

R7498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81266960-81273246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81268901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 3 (F3I)

Ref Sequence

ENSEMBL: ENSMUSP00000050995 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000057798
AA Change: F3I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: F3I

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

probably benign
Transcript: ENSMUST00000218297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218742
AA Change: F3I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219304
AA Change: F3I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220297
AA Change: F3I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,667,668	E148K	unknown	Het
4932415D10Rik	T	A	10: 82,291,279	T1966S	probably benign	Het
Adgrl2	T	A	3: 148,859,216	K243*	probably null	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahnak	A	T	19: 9,012,019	I3556F	probably benign	Het
Akap6	C	T	12: 53,142,705	R2301*	probably null	Het
Alg6	A	G	4: 99,748,696	T305A	probably damaging	Het
Alpk1	C	T	3: 127,679,778	A859T	probably benign	Het
Birc6	A	G	17: 74,660,470	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,088,119	F1134I	probably benign	Het
C6	A	T	15: 4,763,364	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,717,102	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,103,231	R385L	possibly damaging	Het
Ccdc151	A	G	9: 22,002,257	I73T	probably damaging	Het
Ciz1	A	T	2: 32,371,749	M482L	probably benign	Het
Crisp3	A	G	17: 40,225,802		probably null	Het
Dcaf15	G	A	8: 84,101,763	P233S	probably damaging	Het
Def8	A	G	8: 123,447,844	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,325,765	S3569A	probably damaging	Het
Dok6	C	T	18: 89,769,319		probably benign	Het
Dopey1	A	T	9: 86,494,411	T233S	possibly damaging	Het
Ep300	T	A	15: 81,639,843	V1325D	unknown	Het
Fancm	T	A	12: 65,099,391	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194	S111G	probably benign	Het
Fbxo21	T	C	5: 118,002,174		probably null	Het
Fdx1	A	C	9: 51,948,598	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Flot2	G	A	11: 78,053,362		probably null	Het
Fndc10	C	T	4: 155,694,738	R80C	probably damaging	Het
Fut8	A	T	12: 77,412,934	T274S	probably benign	Het
Gli2	T	C	1: 118,835,835	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gm7697	A	C	8: 69,519,823	Y91*	probably null	Het
Hdlbp	T	A	1: 93,413,615	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,383,475		probably null	Het
Inhbb	C	T	1: 119,417,878	R227H	probably damaging	Het
Kifc1	A	G	17: 33,883,872	F256L	probably benign	Het
Lman2	A	T	13: 55,346,977	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,919,077	V242A	probably benign	Het
Mettl8	A	C	2: 70,965,625	V306G	probably damaging	Het
Mog	A	T	17: 37,012,092		probably null	Het
Morc2b	G	A	17: 33,137,859	A313V	possibly damaging	Het
Myh3	A	G	11: 67,097,048	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,283,437	T200K	possibly damaging	Het
Myo16	T	A	8: 10,400,589	H530Q	unknown	Het
Neb	C	T	2: 52,258,176	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539	F141L	possibly damaging	Het
Obscn	G	A	11: 59,082,713	H1931Y	probably damaging	Het
Olfr121	A	G	17: 37,752,351	T166A	probably damaging	Het
Olfr508	T	A	7: 108,630,416	C141*	probably null	Het
Olfr710	A	T	7: 106,944,368	V211D	possibly damaging	Het
Plcb1	T	A	2: 135,262,233	L274*	probably null	Het
Plcb1	G	T	2: 135,262,234	L274F	probably damaging	Het
Prc1	C	T	7: 80,313,150	T564M	possibly damaging	Het
Psd4	G	A	2: 24,406,984	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,436,565	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,620,004	R249L	probably damaging	Het
Slain1	G	A	14: 103,655,993		probably null	Het
Slfn9	A	T	11: 82,982,187	I630N	probably damaging	Het
Smg6	G	A	11: 74,929,106	A68T	probably benign	Het
Spef2	T	A	15: 9,727,539	M153L	probably benign	Het
St8sia4	T	A	1: 95,591,693	M357L	probably benign	Het
Tal1	A	T	4: 115,068,682	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,848,017	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176	H75Q	probably benign	Het
Tor4a	A	G	2: 25,195,792	V33A	probably benign	Het
Traj52	C	T	14: 54,165,361	T15I		Het
Trim50	G	A	5: 135,363,914	V228M	probably benign	Het
Trpm1	A	T	7: 64,208,909	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,876,120	R1835W	probably damaging	Het
Ubn1	T	C	16: 5,077,105	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,474,641	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,927,196	S2223G	unknown	Het
Wnt7b	G	T	15: 85,543,679	A194E	probably damaging	Het
Zmpste24	A	G	4: 121,082,831	V206A	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
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
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'- CAATGCCTGAGTTCCATAGCCG -3'
(R):5'- GCTTCTAGCTGCTGAACCAG -3'

Sequencing Primer
(F):5'- ATAGCCGCAGCCTCAGTTCTAG -3'
(R):5'- AGCTCCTGCACACTGGATG -3'

Posted On

2019-10-17