Mutagenetix > Incidental Mutation

Incidental Mutation 'R4095:Apba1'

317888

Institutional Source

Beutler Lab

Gene Symbol

Apba1

Ensembl Gene

ENSMUSG00000024897

Gene Name

amyloid beta precursor protein binding family A member 1

Synonyms

Lin-10, Mint1, X11, X11alpha, 6430513E09Rik, Mint

MMRRC Submission

040858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23736251-23926960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23921388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 737 (Q737L)

Ref Sequence

ENSEMBL: ENSMUSP00000025830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025830]

AlphaFold

B2RUJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000025830
AA Change: Q737L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000025830
Gene: ENSMUSG00000024897
AA Change: Q737L

Domain	Start	End	E-Value	Type
low complexity region	40	47	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
low complexity region	404	421	N/A	INTRINSIC
PTB	461	626	9.49e-33	SMART
PDZ	670	748	3.09e-15	SMART
PDZ	762	828	2.53e-11	SMART

Meta Mutation Damage Score

0.1138

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (59/61)

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 a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals carrying a homozygous mutation of this gene have reduced body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 53,186,245 (GRCm39)	I1220L	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arvcf	T	A	16: 18,220,327 (GRCm39)	D564E	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Brd9	G	A	13: 74,092,918 (GRCm39)	V302I	probably benign	Het
Brinp3	C	A	1: 146,777,430 (GRCm39)	H626N	possibly damaging	Het
C1qc	T	C	4: 136,617,637 (GRCm39)	N153S	probably benign	Het
Casp3	G	A	8: 47,087,251 (GRCm39)	G66D	probably damaging	Het
Coq7	T	G	7: 118,126,701 (GRCm39)		probably null	Het
Dach1	C	T	14: 98,138,815 (GRCm39)	V491M	possibly damaging	Het
Dda1	A	G	8: 71,926,436 (GRCm39)	T52A	possibly damaging	Het
Entpd7	A	G	19: 43,692,640 (GRCm39)	Y65C	probably damaging	Het
Fmnl2	A	G	2: 52,991,535 (GRCm39)	D350G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Gbp2	A	G	3: 142,343,210 (GRCm39)	T576A	probably benign	Het
Gm15446	T	A	5: 110,088,590 (GRCm39)		probably null	Het
Gtf2a1	G	T	12: 91,542,411 (GRCm39)	T57K	possibly damaging	Het
Hps5	T	C	7: 46,425,218 (GRCm39)	E494G	probably benign	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Hydin	A	G	8: 111,268,179 (GRCm39)	N2886S	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,773 (GRCm39)	Y112C	probably damaging	Het
Kcnf1	A	T	12: 17,225,480 (GRCm39)	L247Q	possibly damaging	Het
Kndc1	A	G	7: 139,516,938 (GRCm39)	M1606V	possibly damaging	Het
Krt27	T	C	11: 99,236,619 (GRCm39)	T431A	probably benign	Het
Lama4	A	T	10: 38,973,118 (GRCm39)	I1562F	probably damaging	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp1b	G	A	2: 41,339,203 (GRCm39)	T880I	probably benign	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Mapt	T	C	11: 104,201,362 (GRCm39)		probably null	Het
Mpdz	A	T	4: 81,302,060 (GRCm39)	V229D	possibly damaging	Het
Or10am5	T	A	7: 6,518,252 (GRCm39)	S59C	possibly damaging	Het
Or6e1	T	C	14: 54,520,188 (GRCm39)	T55A	probably benign	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Parm1	T	C	5: 91,742,039 (GRCm39)	S136P	probably benign	Het
Pcdhgb2	T	A	18: 37,824,003 (GRCm39)	S331R	probably benign	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Rell1	C	A	5: 64,126,013 (GRCm39)	V22L	probably benign	Het
Sema6c	T	A	3: 95,080,505 (GRCm39)	L901Q	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a23	A	G	13: 34,489,189 (GRCm39)	L116P	probably damaging	Het
Slit1	A	T	19: 41,596,925 (GRCm39)		probably benign	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Tmem104	T	A	11: 115,134,749 (GRCm39)	Y427*	probably null	Het
Tmem74	G	A	15: 43,730,678 (GRCm39)	Q122*	probably null	Het
Tnpo2	T	A	8: 85,765,048 (GRCm39)	L10Q	probably damaging	Het
Trav6-2	G	T	14: 52,905,272 (GRCm39)	A98S	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ube2b	A	C	11: 51,888,654 (GRCm39)	V39G	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Wnk1	G	A	6: 119,925,087 (GRCm39)	T1459I	probably damaging	Het
Zc3h7a	T	C	16: 10,963,099 (GRCm39)	K754R	probably damaging	Het
Zfp605	A	G	5: 110,275,602 (GRCm39)	K240R	probably damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het

Other mutations in Apba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Apba1	APN	19	23,894,950 (GRCm39)	missense	possibly damaging	0.95
IGL01991:Apba1	APN	19	23,914,836 (GRCm39)	missense	possibly damaging	0.80
IGL02048:Apba1	APN	19	23,915,000 (GRCm39)	splice site	probably null
IGL02522:Apba1	APN	19	23,889,809 (GRCm39)	splice site	probably benign
IGL02728:Apba1	APN	19	23,922,269 (GRCm39)	missense	possibly damaging	0.93
IGL02942:Apba1	APN	19	23,922,335 (GRCm39)	missense	possibly damaging	0.78
IGL03349:Apba1	APN	19	23,894,939 (GRCm39)	missense	probably benign	0.02
IGL03410:Apba1	APN	19	23,914,945 (GRCm39)	missense	possibly damaging	0.67
R0052:Apba1	UTSW	19	23,893,315 (GRCm39)	missense	possibly damaging	0.90
R0052:Apba1	UTSW	19	23,893,315 (GRCm39)	missense	possibly damaging	0.90
R0084:Apba1	UTSW	19	23,889,861 (GRCm39)	missense	possibly damaging	0.68
R0379:Apba1	UTSW	19	23,912,194 (GRCm39)	missense	probably damaging	1.00
R0423:Apba1	UTSW	19	23,922,362 (GRCm39)	missense	probably damaging	1.00
R1132:Apba1	UTSW	19	23,894,917 (GRCm39)	missense	possibly damaging	0.83
R1291:Apba1	UTSW	19	23,895,036 (GRCm39)	missense	probably damaging	0.97
R1681:Apba1	UTSW	19	23,913,925 (GRCm39)	missense	probably damaging	1.00
R1714:Apba1	UTSW	19	23,922,316 (GRCm39)	missense	possibly damaging	0.67
R1756:Apba1	UTSW	19	23,871,056 (GRCm39)	missense	possibly damaging	0.83
R1866:Apba1	UTSW	19	23,870,195 (GRCm39)	missense	probably benign	0.22
R2076:Apba1	UTSW	19	23,870,587 (GRCm39)	nonsense	probably null
R2217:Apba1	UTSW	19	23,871,326 (GRCm39)	missense	probably damaging	0.99
R3907:Apba1	UTSW	19	23,914,870 (GRCm39)	missense	probably damaging	0.96
R4529:Apba1	UTSW	19	23,913,899 (GRCm39)	missense	probably damaging	1.00
R4557:Apba1	UTSW	19	23,894,956 (GRCm39)	missense	probably damaging	1.00
R4972:Apba1	UTSW	19	23,889,900 (GRCm39)	missense	probably benign	0.24
R5521:Apba1	UTSW	19	23,870,957 (GRCm39)	missense	probably damaging	1.00
R6539:Apba1	UTSW	19	23,913,924 (GRCm39)	missense	probably damaging	1.00
R7032:Apba1	UTSW	19	23,889,825 (GRCm39)	missense	probably benign	0.20
R7035:Apba1	UTSW	19	23,894,931 (GRCm39)	missense	possibly damaging	0.88
R7495:Apba1	UTSW	19	23,913,963 (GRCm39)	critical splice donor site	probably null
R9149:Apba1	UTSW	19	23,870,782 (GRCm39)	missense	probably damaging	1.00
R9288:Apba1	UTSW	19	23,923,145 (GRCm39)	makesense	probably null
Z1176:Apba1	UTSW	19	23,921,479 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGAAGATGCCATCCACAGG -3'
(R):5'- CCCCAAACGTCTTTATTGGATG -3'

Sequencing Primer
(F):5'- TCTCACACAGACTGGGCG -3'
(R):5'- CCCAAACGTCTTTATTGGATGAAAAG -3'

Posted On

2015-05-15