Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Apba3'

232941

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

040118-MU

Accession Numbers

Essential gene?

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

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81266960-81273246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81273112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 570 (Y570H)

Ref Sequence

ENSEMBL: ENSMUSP00000151985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045744] [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 damaging
Transcript: ENSMUST00000057798
AA Change: Y570H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931
AA Change: Y570H

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

silent
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: ENSMUST00000219460

Predicted Effect

probably benign
Transcript: ENSMUST00000219479

Predicted Effect

probably damaging
Transcript: ENSMUST00000220297
AA Change: Y570H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 155,047,729	R72G	probably benign	Het
Adgrb1	T	A	15: 74,540,562		probably null	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,787,938	V685I	probably benign	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Ash1l	C	T	3: 88,983,264	L817F	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Bmp10	A	C	6: 87,434,459	E411D	probably benign	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Ces1a	A	G	8: 93,039,551	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,179,489	V345I	probably damaging	Het
Ckmt2	T	A	13: 91,855,845	I345F	probably benign	Het
Col5a2	T	A	1: 45,376,804	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,144,035	N1492S	probably damaging	Het
Dock3	T	C	9: 106,993,544	N557S	probably benign	Het
Edem2	G	A	2: 155,702,559	R424C	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
Eya1	A	T	1: 14,270,774	F163I	probably damaging	Het
Ezh1	A	C	11: 101,208,185	S290A	probably benign	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Fat4	A	T	3: 38,981,484	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,506,640	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,714,241	C173W	probably damaging	Het
Gcc2	T	A	10: 58,269,540	C99*	probably null	Het
Gcn1l1	A	T	5: 115,598,825	M1276L	probably benign	Het
Gm14124	T	A	2: 150,267,899	C170S	unknown	Het
Gm266	T	G	12: 111,485,682	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,673,012	E264V	probably damaging	Het
Ift74	A	G	4: 94,627,259	T138A	probably benign	Het
Ikzf1	T	G	11: 11,769,473	H480Q	probably damaging	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,739,359	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,759,595	M4T	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lrwd1	T	A	5: 136,130,478	Y431F	probably damaging	Het
Madd	A	G	2: 91,164,022	V884A	probably damaging	Het
Maz	C	A	7: 127,025,505	C281F	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mllt10	A	G	2: 18,162,569	N435S	probably benign	Het
Mrm3	T	C	11: 76,244,521	M186T	possibly damaging	Het
Naprt	T	C	15: 75,891,788	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,546,909	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,133,265	N157I	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Obscn	C	T	11: 59,131,658	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,436,212	E137G	probably damaging	Het
Pdk2	A	G	11: 95,027,262	Y382H	probably damaging	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pik3r2	T	C	8: 70,769,385	I585V	probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,320,970	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,469,450	N9D	probably damaging	Het
Prex2	T	A	1: 11,186,713	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,667,395	M236L	possibly damaging	Het
Prkar2b	T	A	12: 31,967,280	N257I	probably damaging	Het
Prkcd	A	G	14: 30,605,851	C208R	probably damaging	Het
Prkch	T	A	12: 73,702,516	S347T	probably benign	Het
Prr12	A	G	7: 45,046,082	V1320A	unknown	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptx3	T	A	3: 66,224,766	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rgr	T	A	14: 37,038,852		probably null	Het
Rgs7	T	A	1: 175,091,073	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,817,549	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,149,567	E781V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Rusc1	T	C	3: 89,091,707	D256G	probably benign	Het
Scap	T	C	9: 110,381,273	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Slc24a2	C	T	4: 86,991,355	V664I	probably benign	Het
Stim2	A	G	5: 54,104,477	Q237R	probably damaging	Het
Synpo2	T	A	3: 123,079,888	H1143L	probably benign	Het
Syt4	A	G	18: 31,440,467	Y332H	probably damaging	Het
Tcf23	G	A	5: 30,973,575	D186N	probably benign	Het
Tcf3	C	A	10: 80,410,206	G628W	probably damaging	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,975,629	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,622,551	E92G	probably damaging	Het
Ttn	A	T	2: 76,747,008	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,145,027	E587G	probably benign	Het
Ubr4	A	T	4: 139,429,611	K2316*	probably null	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Vat1	A	T	11: 101,465,742	V131E	probably damaging	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Zfp592	G	A	7: 81,024,796	V503M	probably damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	probably damaging	Het
Zscan30	A	G	18: 23,971,116		noncoding transcript	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
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
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'- TCATTGAGGTCAACGGGCAG -3'
(R):5'- TGACCTATGCAGTCACCAGC -3'

Sequencing Primer
(F):5'- ATGCGCGCATCATCCAG -3'
(R):5'- GTCACCAGCGTGCCACAAG -3'

Posted On

2014-09-18