Mutagenetix > Incidental Mutation

Incidental Mutation 'R7348:Ap4e1'

570323

Institutional Source

Beutler Lab

Gene Symbol

Ap4e1

Ensembl Gene

ENSMUSG00000001998

Gene Name

adaptor-related protein complex AP-4, epsilon 1

Synonyms

2310033A20Rik

MMRRC Submission

045380-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126850637-126909829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126903897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 933 (S933I)

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: S933I

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: S933I

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,729,555 (GRCm39)	R282C	probably damaging	Het
Adcy2	T	A	13: 68,882,794 (GRCm39)	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,523,402 (GRCm39)	I274N		Het
Adpgk	A	G	9: 59,221,069 (GRCm39)	I292V	probably benign	Het
Agtrap	G	T	4: 148,165,054 (GRCm39)	F124L	probably benign	Het
Ankrd26	A	G	6: 118,485,525 (GRCm39)	Y1450H	probably damaging	Het
Ap5s1	A	T	2: 131,054,572 (GRCm39)	T128S	possibly damaging	Het
Arih1	T	C	9: 59,393,341 (GRCm39)	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,678,251 (GRCm39)	F1034S	unknown	Het
Bmp6	T	C	13: 38,669,879 (GRCm39)	S388P	probably benign	Het
Ccdc39	A	G	3: 33,886,825 (GRCm39)	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,222,293 (GRCm39)	C150Y	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cln6	A	G	9: 62,756,458 (GRCm39)	S201G	probably benign	Het
Cntnap4	T	C	8: 113,391,909 (GRCm39)	Y125H	probably damaging	Het
Copa	A	G	1: 171,929,790 (GRCm39)	T286A	possibly damaging	Het
Cul9	A	T	17: 46,821,919 (GRCm39)	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,332,877 (GRCm39)	A490S	probably benign	Het
Cyp2t4	A	G	7: 26,856,676 (GRCm39)	I239V	probably benign	Het
Dpcd	A	G	19: 45,560,905 (GRCm39)	Y111C	probably damaging	Het
E2f7	C	T	10: 110,616,836 (GRCm39)	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,457,055 (GRCm39)	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,458,359 (GRCm39)	M77R	probably benign	Het
Fhod3	A	G	18: 25,223,524 (GRCm39)	R957G	possibly damaging	Het
H6pd	C	A	4: 150,068,359 (GRCm39)		probably null	Het
Haus5	G	T	7: 30,356,391 (GRCm39)	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,762 (GRCm39)		probably benign	Het
Igf2r	A	G	17: 12,922,371 (GRCm39)	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,035,455 (GRCm39)	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561 (GRCm39)	H251L	probably damaging	Het
Mapre3	T	C	5: 31,019,173 (GRCm39)	Y6H	probably benign	Het
Mlh3	G	T	12: 85,314,215 (GRCm39)	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 46,985,157 (GRCm39)	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh1	C	A	11: 67,093,365 (GRCm39)	P152Q	probably damaging	Het
Myh6	A	T	14: 55,189,716 (GRCm39)	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,427,676 (GRCm39)	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,258,341 (GRCm39)	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,143,698 (GRCm39)	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Or2f1	T	C	6: 42,721,790 (GRCm39)	L273S	possibly damaging	Het
Or5p1	T	C	7: 107,916,920 (GRCm39)	V273A	possibly damaging	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or7a38	A	G	10: 78,753,396 (GRCm39)	T241A	probably damaging	Het
Parg	G	A	14: 31,972,036 (GRCm39)	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,434,182 (GRCm39)	C1395*	probably null	Het
Psd2	G	A	18: 36,113,389 (GRCm39)	S287N	possibly damaging	Het
Psd3	T	C	8: 68,243,583 (GRCm39)	N685S	possibly damaging	Het
Pygb	C	T	2: 150,628,903 (GRCm39)	T39M	probably benign	Het
Rbfox1	C	A	16: 7,225,888 (GRCm39)	Y351*	probably null	Het
Rftn1	A	G	17: 50,311,351 (GRCm39)	L396P	probably damaging	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,364,899 (GRCm39)	M440V	probably benign	Het
Sel1l2	T	C	2: 140,107,644 (GRCm39)	N240S	probably benign	Het
Skic3	T	C	13: 76,331,003 (GRCm39)	F1478L	possibly damaging	Het
Skint1	T	C	4: 111,878,770 (GRCm39)	L234P	probably damaging	Het
Skint11	T	A	4: 114,101,919 (GRCm39)	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,559,915 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,414 (GRCm39)	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,485,137 (GRCm39)	A773D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmem184a	T	C	5: 139,799,809 (GRCm39)	E24G	probably null	Het
Tmem207	C	A	16: 26,335,577 (GRCm39)	W53C	possibly damaging	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Ttc41	G	T	10: 86,586,212 (GRCm39)	E839*	probably null	Het
Ufd1	T	G	16: 18,634,635 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,942,177 (GRCm39)	E713G	probably benign	Het
Utrn	A	G	10: 12,623,762 (GRCm39)	W159R	probably damaging	Het
Vcl	C	T	14: 21,053,218 (GRCm39)	A411V	probably benign	Het
Vcl	T	A	14: 21,059,020 (GRCm39)	C545*	probably null	Het
Vmn1r120	A	T	7: 20,787,377 (GRCm39)	S111R	probably damaging	Het
Wwox	T	A	8: 115,199,392 (GRCm39)	C146S	probably benign	Het
Zbtb2	T	C	10: 4,324,574 (GRCm39)	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,671,010 (GRCm39)	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,539,658 (GRCm39)	S231P	probably damaging	Het
Zhx3	G	T	2: 160,624,038 (GRCm39)	S43*	probably null	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
R7165:Ap4e1	UTSW	2	126,905,238 (GRCm39)	missense	possibly damaging	0.48
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'- AGAGTGTCAGCTTGCCTGTG -3'
(R):5'- CTCTAGAGTAATGTATCCTGAGTCC -3'

Sequencing Primer
(F):5'- TTGCTGATAACAACATGGAAGTC -3'
(R):5'- CCTGAGTCCTGTTTTTAAGGAAGAC -3'

Posted On

2019-09-13