Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Ap4e1'

553608

Institutional Source

Beutler Lab

Gene Symbol

Ap4e1

Ensembl Gene

ENSMUSG00000001998

Gene Name

adaptor-related protein complex AP-4, epsilon 1

Synonyms

2310033A20Rik

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

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

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126850637-126909829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126853727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 55 (I55N)

Ref Sequence

ENSEMBL: ENSMUSP00000002063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000110393] [ENSMUST00000110394] [ENSMUST00000175663] [ENSMUST00000177372]

AlphaFold

Q80V94

Predicted Effect

probably damaging
Transcript: ENSMUST00000002063
AA Change: I55N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: I55N

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: ENSMUST00000110393

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110394
AA Change: I55N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106024
Gene: ENSMUSG00000001998
AA Change: I55N

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	51	392	2.4e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175663
AA Change: I55N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135599
Gene: ENSMUSG00000001998
AA Change: I55N

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	51	355	1.3e-59	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177372
AA Change: I55N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998
AA Change: I55N

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: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,796 (GRCm39)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,337,939 (GRCm39)	M184I	probably benign	Het
Aldoa	G	T	7: 126,396,034 (GRCm39)	T124N	possibly damaging	Het
Arhgap21	T	C	2: 20,870,198 (GRCm39)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,030,784 (GRCm39)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,117,777 (GRCm39)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,122,994 (GRCm39)		probably null	Het
Ccn4	T	A	15: 66,784,879 (GRCm39)	V184E	probably damaging	Het
Ccna1	G	T	3: 54,953,120 (GRCm39)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,185,189 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,219,905 (GRCm39)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,492,421 (GRCm39)	P5L	probably damaging	Het
Cep128	T	C	12: 91,260,933 (GRCm39)	E310G	probably damaging	Het
Cflar	G	T	1: 58,793,007 (GRCm39)	V458F		Het
Clec4b2	A	G	6: 123,158,343 (GRCm39)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,593,883 (GRCm39)	T741A	probably benign	Het
Csf3r	A	T	4: 125,937,515 (GRCm39)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,473,733 (GRCm39)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,604,138 (GRCm39)	V406E	probably benign	Het
Dnah10	A	G	5: 124,900,006 (GRCm39)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,737,867 (GRCm39)		probably null	Het
Dst	A	G	1: 34,191,324 (GRCm39)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,211,224 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,239,578 (GRCm39)	S13P	probably benign	Het
Ephb1	T	C	9: 101,841,276 (GRCm39)	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,475,184 (GRCm39)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,544,183 (GRCm39)	D644G	probably damaging	Het
Eya4	A	C	10: 23,048,943 (GRCm39)	D54E	probably benign	Het
Filip1	T	C	9: 79,727,495 (GRCm39)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,505,189 (GRCm39)	M68T	probably benign	Het
Gemin5	G	C	11: 58,032,489 (GRCm39)	P772A	probably benign	Het
Gle1	T	G	2: 29,833,805 (GRCm39)	C401G	probably damaging	Het
Gm7298	A	T	6: 121,738,546 (GRCm39)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,910,353 (GRCm39)	I22L	probably benign	Het
Grin2b	T	G	6: 135,710,474 (GRCm39)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,539,624 (GRCm39)	N2956D	probably damaging	Het
Htt	T	C	5: 35,003,350 (GRCm39)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,625,744 (GRCm39)	D2G	probably benign	Het
Il16	T	A	7: 83,295,659 (GRCm39)	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,024,217 (GRCm39)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,792,430 (GRCm39)		probably null	Het
Krt12	A	T	11: 99,306,839 (GRCm39)	*488K	probably null	Het
Lap3	A	T	5: 45,654,290 (GRCm39)	T83S	probably benign	Het
Lars2	T	A	9: 123,261,058 (GRCm39)	S410T	probably damaging	Het
Limch1	A	G	5: 67,175,001 (GRCm39)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,522,439 (GRCm39)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,618,258 (GRCm39)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,319 (GRCm39)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,483,524 (GRCm39)		probably null	Het
Mybpc3	T	C	2: 90,964,949 (GRCm39)	I1066T	probably benign	Het
Myo10	A	T	15: 25,724,011 (GRCm39)	N215I	probably damaging	Het
Myocd	A	C	11: 65,109,474 (GRCm39)	L99R	probably damaging	Het
Nadk	T	G	4: 155,673,793 (GRCm39)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,364,952 (GRCm39)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,153,633 (GRCm39)	P694L	probably benign	Het
Or2ag1	T	A	7: 106,473,075 (GRCm39)	I126F	probably damaging	Het
Or2w3b	A	C	11: 58,623,571 (GRCm39)	L140R	probably damaging	Het
Or4a71	T	C	2: 89,357,901 (GRCm39)	I284M	probably damaging	Het
Or5t16	G	T	2: 86,819,164 (GRCm39)	R119S	probably damaging	Het
Pcdhb13	T	A	18: 37,576,309 (GRCm39)	I229K	probably damaging	Het
Pgbd5	A	T	8: 125,101,056 (GRCm39)	M400K	possibly damaging	Het
Phactr3	A	G	2: 177,944,529 (GRCm39)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,606,868 (GRCm39)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,527,783 (GRCm39)	V379M	probably damaging	Het
Pira12	A	G	7: 3,900,615 (GRCm39)	V45A	probably damaging	Het
Pkd1l2	A	T	8: 117,802,870 (GRCm39)	C250*	probably null	Het
Pramel14	A	C	4: 143,718,103 (GRCm39)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,548,191 (GRCm39)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,404,414 (GRCm39)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,749,789 (GRCm39)		probably null	Het
Septin11	A	G	5: 93,304,725 (GRCm39)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,913,277 (GRCm39)	*414C	probably null	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,718,975 (GRCm39)	N560S	probably benign	Het
Slc25a25	A	G	2: 32,309,178 (GRCm39)	F221S	probably damaging	Het
Spag17	G	T	3: 99,934,717 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,906,881 (GRCm39)	L104P	probably damaging	Het
St18	A	C	1: 6,903,818 (GRCm39)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,117,169 (GRCm39)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,822,395 (GRCm39)	D156G	probably damaging	Het
Syne2	C	A	12: 76,052,152 (GRCm39)	S4092R	probably benign	Het
Tll1	T	A	8: 64,577,979 (GRCm39)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,136,022 (GRCm39)		probably benign	Het
Tnfaip3	T	A	10: 18,883,029 (GRCm39)	T179S	probably benign	Het
Trav16	T	C	14: 53,981,096 (GRCm39)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,771,435 (GRCm39)	S280T	probably damaging	Het
Unc79	A	G	12: 103,108,885 (GRCm39)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 63,997,362 (GRCm39)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,332,742 (GRCm39)		probably null	Het
Washc4	A	T	10: 83,409,638 (GRCm39)		probably null	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,000,053 (GRCm39)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,050,631 (GRCm39)	T797S	probably benign	Het
Zfp74	T	C	7: 29,634,590 (GRCm39)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,833,173 (GRCm39)		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
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'- CGAGGCATCATCTCACTACC -3'
(R):5'- GCAAATAGCCTCACAGTGGC -3'

Sequencing Primer
(F):5'- GAGCCTTCATCCTTTGGAAGAACAG -3'
(R):5'- TCACAGTGGCCAGCAGAG -3'

Posted On

2019-05-15