Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Ap4e1'

440720

Institutional Source

Beutler Lab

Gene Symbol

Ap4e1

Ensembl Gene

ENSMUSG00000001998

Gene Name

adaptor-related protein complex AP-4, epsilon 1

Synonyms

2310033A20Rik

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

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

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126850637-126909829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126906899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1053 (V1053D)

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: V1053D

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: V1053D

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,261,319 (GRCm39)	E699G	probably damaging	Het
Apobec1	T	A	6: 122,558,456 (GRCm39)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,211,480 (GRCm39)	K53N	probably damaging	Het
Bag3	C	T	7: 128,147,830 (GRCm39)	R482W	probably damaging	Het
Brme1	C	T	8: 84,894,114 (GRCm39)	T427I	probably damaging	Het
Cacna1i	A	G	15: 80,279,279 (GRCm39)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,827,372 (GRCm39)	I100F	possibly damaging	Het
Cdh16	A	G	8: 105,344,677 (GRCm39)	F485L	probably damaging	Het
Cdhr5	T	A	7: 140,849,110 (GRCm39)	K817*	probably null	Het
Cfap46	G	T	7: 139,258,493 (GRCm39)	P260Q	probably damaging	Het
Clec11a	C	T	7: 43,955,832 (GRCm39)	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,644,076 (GRCm39)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,370,872 (GRCm39)		probably benign	Het
Cxcr1	G	A	1: 74,230,987 (GRCm39)	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,515,744 (GRCm39)		probably null	Het
Dalrd3	C	T	9: 108,449,489 (GRCm39)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,787,327 (GRCm39)	S3N	probably benign	Het
Ddx41	T	C	13: 55,683,708 (GRCm39)	K108E	possibly damaging	Het
Dnaaf10	A	G	11: 17,177,263 (GRCm39)	N207S	possibly damaging	Het
Ece2	A	T	16: 20,462,477 (GRCm39)	H732L	probably benign	Het
Etv3	T	G	3: 87,443,322 (GRCm39)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,333,985 (GRCm39)	S1070P	probably damaging	Het
Fhip1b	A	T	7: 105,039,089 (GRCm39)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,770,437 (GRCm39)	I125N	unknown	Het
Grm3	A	G	5: 9,620,536 (GRCm39)	L236P	probably benign	Het
Hip1	T	A	5: 135,461,939 (GRCm39)	R97*	probably null	Het
Hoxa5	T	C	6: 52,181,197 (GRCm39)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,292,654 (GRCm39)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,676,229 (GRCm39)	C362S	probably benign	Het
Kif1c	A	G	11: 70,599,273 (GRCm39)	K391E	probably benign	Het
Klf9	T	C	19: 23,119,246 (GRCm39)	V43A	probably benign	Het
Krt28	T	A	11: 99,265,320 (GRCm39)	I116F	probably damaging	Het
Lct	A	T	1: 128,222,969 (GRCm39)	D1439E	probably damaging	Het
Liph	G	A	16: 21,784,745 (GRCm39)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,393,055 (GRCm39)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,564,604 (GRCm39)	Q178R	probably benign	Het
Map1a	T	A	2: 121,136,524 (GRCm39)	S2209T	probably damaging	Het
Map3k21	C	T	8: 126,665,563 (GRCm39)	T584I	probably benign	Het
Map3k6	T	C	4: 132,972,855 (GRCm39)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 25,122,285 (GRCm39)	V699E	possibly damaging	Het
Mtarc1	A	C	1: 184,543,116 (GRCm39)	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,363,452 (GRCm39)	S53P	probably benign	Het
Nt5e	T	C	9: 88,209,740 (GRCm39)	M1T	probably null	Het
Nudt22	T	C	19: 6,972,896 (GRCm39)	H64R	probably damaging	Het
Or1o11	A	T	17: 37,756,663 (GRCm39)	T84S	probably damaging	Het
Or2t44	A	T	11: 58,677,654 (GRCm39)	Y198F	probably damaging	Het
Or2w3	T	C	11: 58,557,225 (GRCm39)	I280T	possibly damaging	Het
Or52b1	A	T	7: 104,978,772 (GRCm39)	V209D	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or8k17	T	C	2: 86,066,276 (GRCm39)	N294S	probably damaging	Het
Otogl	T	C	10: 107,722,413 (GRCm39)	I314V	probably benign	Het
Pan2	G	T	10: 128,143,969 (GRCm39)	E106D	probably benign	Het
Papss1	T	A	3: 131,337,565 (GRCm39)	Y554*	probably null	Het
Pcnx1	T	C	12: 81,941,803 (GRCm39)	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,325,829 (GRCm39)	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,829,202 (GRCm39)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 100,950,678 (GRCm39)	M878I	probably damaging	Het
Ranbp3	G	A	17: 57,017,703 (GRCm39)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,002,157 (GRCm39)	D261G	probably damaging	Het
Reep2	A	G	18: 34,979,271 (GRCm39)	S199G	probably benign	Het
Rnpep	G	A	1: 135,205,259 (GRCm39)	T202I	probably damaging	Het
Sass6	T	A	3: 116,401,145 (GRCm39)		probably null	Het
Sema3e	A	G	5: 14,212,257 (GRCm39)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,697,727 (GRCm39)	E60G	probably damaging	Het
Spata31g1	T	C	4: 42,971,831 (GRCm39)	L388P	possibly damaging	Het
Spata31h1	T	A	10: 82,120,317 (GRCm39)	Q4231L	probably damaging	Het
Sptlc3	T	C	2: 139,388,328 (GRCm39)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,073,925 (GRCm39)	I245T	probably benign	Het
Syne2	T	C	12: 75,965,306 (GRCm39)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,049,617 (GRCm39)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,132,692 (GRCm39)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,026,973 (GRCm39)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,210,725 (GRCm39)	A166E	probably damaging	Het
Tex14	A	G	11: 87,405,046 (GRCm39)	R653G	probably benign	Het
Them6	A	T	15: 74,593,654 (GRCm39)	R171W	probably null	Het
Tln2	T	C	9: 67,203,640 (GRCm39)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,234,427 (GRCm39)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm39)	C469*	probably null	Het
Tpr	T	C	1: 150,299,569 (GRCm39)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,067,143 (GRCm39)	M528V	probably benign	Het
Trpm6	T	A	19: 18,807,571 (GRCm39)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,665,348 (GRCm39)	S5C	probably damaging	Het
Ttn	T	C	2: 76,617,412 (GRCm39)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,435,275 (GRCm39)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,776,206 (GRCm39)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,606,588 (GRCm39)	H253Y	probably benign	Het
Vps13d	A	T	4: 144,896,872 (GRCm39)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,580,381 (GRCm39)	E543G		Het
Zfat	A	T	15: 68,052,765 (GRCm39)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,249,846 (GRCm39)	E139G	unknown	Het
Zfp943	T	A	17: 22,211,813 (GRCm39)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm39)	K677E	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTGTGACCCAGGCTTAC -3'
(R):5'- ACTCCTTAATACAGTCTGGAAACAC -3'

Sequencing Primer
(F):5'- CGTTTCCATGAGTCATGTGAAATG -3'
(R):5'- GGGCTGCCGTTTCTTAAT -3'

Posted On

2016-11-08