Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00659:Ap4e1'

12464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap4e1

Ensembl Gene

ENSMUSG00000001998

Gene Name

adaptor-related protein complex AP-4, epsilon 1

Synonyms

2310033A20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL00659

Quality Score

Status

Chromosome

Chromosomal Location

126850637-126909829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126905221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 964 (V964A)

Ref Sequence

ENSEMBL: ENSMUSP00000002063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000142740] [ENSMUST00000177372]

AlphaFold

Q80V94

Predicted Effect

probably benign
Transcript: ENSMUST00000002063
AA Change: V964A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: V964A

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	51	600	5.9e-90	PFAM
low complexity region	841	853	N/A	INTRINSIC
AP4E_app_platf	1017	1120	4.2e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142740

Predicted Effect

probably benign
Transcript: ENSMUST00000177372

SMART Domains

Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	51	291	2.5e-47	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Birc6	T	A	17: 74,967,648 (GRCm39)	V4197E	probably damaging	Het
C8b	T	A	4: 104,658,531 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 120,039,406 (GRCm39)	D616G	probably damaging	Het
Cfi	A	G	3: 129,630,462 (GRCm39)	K2E	unknown	Het
Chek1	C	A	9: 36,633,895 (GRCm39)		probably null	Het
Chst11	T	G	10: 83,027,639 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,103,169 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,406,852 (GRCm39)	S1049P	probably damaging	Het
Fkbp15	T	C	4: 62,251,917 (GRCm39)		probably benign	Het
Fxr2	C	A	11: 69,531,076 (GRCm39)	Q51K	probably benign	Het
Kpna7	T	A	5: 144,944,056 (GRCm39)	I50F	probably damaging	Het
Mdm2	T	C	10: 117,538,204 (GRCm39)	R65G	possibly damaging	Het
N4bp1	G	T	8: 87,588,430 (GRCm39)	D169E	probably damaging	Het
Nlrp9a	A	G	7: 26,257,050 (GRCm39)	I134V	probably benign	Het
Plrg1	T	A	3: 82,977,980 (GRCm39)	S400T	probably damaging	Het
Polr1b	T	C	2: 128,960,020 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,425,690 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,148,556 (GRCm39)	T1680I	probably damaging	Het
Usp29	A	G	7: 6,965,281 (GRCm39)	N375D	probably benign	Het
Wrn	A	G	8: 33,812,405 (GRCm39)		probably benign	Het
Zfp422	G	A	6: 116,603,466 (GRCm39)	Q178*	probably null	Het
Zfp938	T	A	10: 82,063,355 (GRCm39)		probably benign	Het

Other mutations in Ap4e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ap4e1	APN	2	126,870,201 (GRCm39)	missense	probably damaging	1.00
IGL00423:Ap4e1	APN	2	126,870,209 (GRCm39)	missense	probably damaging	0.99
IGL01155:Ap4e1	APN	2	126,885,365 (GRCm39)	missense	probably damaging	1.00
IGL01672:Ap4e1	APN	2	126,894,109 (GRCm39)	missense	probably damaging	1.00
IGL01866:Ap4e1	APN	2	126,888,830 (GRCm39)	missense	possibly damaging	0.83
IGL01940:Ap4e1	APN	2	126,885,431 (GRCm39)	missense	probably damaging	0.97
IGL02131:Ap4e1	APN	2	126,903,849 (GRCm39)	missense	probably benign
IGL02207:Ap4e1	APN	2	126,853,736 (GRCm39)	missense	probably damaging	1.00
IGL03394:Ap4e1	APN	2	126,905,317 (GRCm39)	missense	probably benign	0.18
quickstep	UTSW	2	126,850,822 (GRCm39)	critical splice donor site	probably null
K7371:Ap4e1	UTSW	2	126,908,456 (GRCm39)	unclassified	probably benign
R0090:Ap4e1	UTSW	2	126,906,905 (GRCm39)	missense	possibly damaging	0.70
R0420:Ap4e1	UTSW	2	126,891,280 (GRCm39)	missense	probably damaging	1.00
R0490:Ap4e1	UTSW	2	126,888,106 (GRCm39)	missense	probably damaging	1.00
R0632:Ap4e1	UTSW	2	126,891,200 (GRCm39)	nonsense	probably null
R0670:Ap4e1	UTSW	2	126,853,784 (GRCm39)	critical splice donor site	probably null
R0698:Ap4e1	UTSW	2	126,905,283 (GRCm39)	missense	probably benign	0.00
R1183:Ap4e1	UTSW	2	126,856,121 (GRCm39)	missense	probably damaging	0.98
R1338:Ap4e1	UTSW	2	126,888,829 (GRCm39)	missense	probably damaging	1.00
R1513:Ap4e1	UTSW	2	126,903,475 (GRCm39)	missense	probably null	1.00
R1528:Ap4e1	UTSW	2	126,853,743 (GRCm39)	missense	possibly damaging	0.50
R1994:Ap4e1	UTSW	2	126,903,467 (GRCm39)	missense	probably benign	0.00
R2270:Ap4e1	UTSW	2	126,889,083 (GRCm39)	critical splice donor site	probably null
R2271:Ap4e1	UTSW	2	126,889,083 (GRCm39)	critical splice donor site	probably null
R3108:Ap4e1	UTSW	2	126,898,226 (GRCm39)	critical splice donor site	probably null
R4019:Ap4e1	UTSW	2	126,903,846 (GRCm39)	missense	probably benign	0.01
R4020:Ap4e1	UTSW	2	126,903,846 (GRCm39)	missense	probably benign	0.01
R4454:Ap4e1	UTSW	2	126,889,061 (GRCm39)	missense	probably damaging	1.00
R4691:Ap4e1	UTSW	2	126,903,791 (GRCm39)	missense	probably benign	0.08
R4767:Ap4e1	UTSW	2	126,902,358 (GRCm39)	missense	probably benign
R4803:Ap4e1	UTSW	2	126,891,479 (GRCm39)	missense	probably benign	0.20
R4804:Ap4e1	UTSW	2	126,885,678 (GRCm39)	critical splice donor site	probably null
R5155:Ap4e1	UTSW	2	126,905,289 (GRCm39)	missense	probably benign	0.02
R5157:Ap4e1	UTSW	2	126,903,615 (GRCm39)	missense	probably benign	0.00
R5248:Ap4e1	UTSW	2	126,906,842 (GRCm39)	missense	possibly damaging	0.95
R5363:Ap4e1	UTSW	2	126,879,784 (GRCm39)	splice site	probably null
R5507:Ap4e1	UTSW	2	126,850,818 (GRCm39)	missense	probably damaging	0.98
R5642:Ap4e1	UTSW	2	126,906,899 (GRCm39)	missense	possibly damaging	0.67
R6122:Ap4e1	UTSW	2	126,870,080 (GRCm39)	splice site	probably null
R6180:Ap4e1	UTSW	2	126,908,508 (GRCm39)	nonsense	probably null
R6298:Ap4e1	UTSW	2	126,889,035 (GRCm39)	missense	probably benign	0.00
R6329:Ap4e1	UTSW	2	126,903,636 (GRCm39)	missense	probably benign	0.10
R6543:Ap4e1	UTSW	2	126,908,525 (GRCm39)	missense	probably benign	0.03
R6954:Ap4e1	UTSW	2	126,906,871 (GRCm39)	missense	probably benign	0.01
R7144:Ap4e1	UTSW	2	126,853,727 (GRCm39)	missense	probably damaging	0.99
R7165:Ap4e1	UTSW	2	126,905,238 (GRCm39)	missense	possibly damaging	0.48
R7348:Ap4e1	UTSW	2	126,903,897 (GRCm39)	missense	possibly damaging	0.76
R7348:Ap4e1	UTSW	2	126,903,896 (GRCm39)	missense	probably damaging	0.96
R7382:Ap4e1	UTSW	2	126,850,822 (GRCm39)	critical splice donor site	probably null
R7571:Ap4e1	UTSW	2	126,861,256 (GRCm39)	missense	probably damaging	1.00
R7768:Ap4e1	UTSW	2	126,888,854 (GRCm39)	missense	probably damaging	1.00
R8875:Ap4e1	UTSW	2	126,877,100 (GRCm39)	missense	probably damaging	1.00
R9135:Ap4e1	UTSW	2	126,861,242 (GRCm39)	missense	probably damaging	1.00
R9592:Ap4e1	UTSW	2	126,903,588 (GRCm39)	missense	probably benign	0.14
R9701:Ap4e1	UTSW	2	126,875,563 (GRCm39)	missense	probably benign	0.01
X0060:Ap4e1	UTSW	2	126,905,330 (GRCm39)	missense	probably benign	0.01
X0065:Ap4e1	UTSW	2	126,903,570 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06