Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Ap4e1'

557848

Institutional Source

Beutler Lab

Gene Symbol

Ap4e1

Ensembl Gene

ENSMUSG00000001998

Gene Name

adaptor-related protein complex AP-4, epsilon 1

Synonyms

2310033A20Rik

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

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

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126850637-126909829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126905238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 970 (T970S)

Ref Sequence

ENSEMBL: ENSMUSP00000002063 (fasta)

Gene Model

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

AlphaFold

Q80V94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002063
AA Change: T970S

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: T970S

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	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
IGL00659:Ap4e1	APN	2	126,905,221 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTGATTAAAAGAGTTCTGGTGC -3'
(R):5'- AGCCAGCATGGTGTCTCTAG -3'

Sequencing Primer
(F):5'- AATTTAATAATCTGCCGGGCGG -3'
(R):5'- GAACAGAATGCGTATCCATC -3'

Posted On

2019-06-26