Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02116:Ap4s1'

280405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap4s1

Ensembl Gene

ENSMUSG00000020955

Gene Name

adaptor-related protein complex AP-4, sigma 1

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02116

Quality Score

Status

Chromosome

Chromosomal Location

51737816-51791569 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 51769833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021338] [ENSMUST00000218820]

AlphaFold

Q9WVL1

Predicted Effect

probably null
Transcript: ENSMUST00000021338

SMART Domains

Protein: ENSMUSP00000021338
Gene: ENSMUSG00000020955

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	142	4.3e-46	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218820

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the sigma subunit of the adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Adamts19	T	C	18: 58,970,571 (GRCm39)	S52P	probably benign	Het
Ahrr	G	T	13: 74,368,692 (GRCm39)	H160Q	possibly damaging	Het
Atrn	T	C	2: 130,800,009 (GRCm39)	V462A	probably damaging	Het
D630003M21Rik	T	C	2: 158,045,130 (GRCm39)	S800G	possibly damaging	Het
Dach1	T	G	14: 98,138,859 (GRCm39)	N528T	probably damaging	Het
Foxl2	T	C	9: 98,838,111 (GRCm39)	M133T	probably damaging	Het
Grsf1	A	G	5: 88,818,033 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,042,772 (GRCm39)	I43T	probably damaging	Het
Helz2	T	C	2: 180,873,978 (GRCm39)	Y2172C	probably damaging	Het
Hey1	G	T	3: 8,731,640 (GRCm39)		probably null	Het
Hnrnph3	A	T	10: 62,851,855 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,568 (GRCm39)	Y81*	probably null	Het
Inhba	A	G	13: 16,201,557 (GRCm39)	H373R	probably benign	Het
Leo1	T	A	9: 75,356,697 (GRCm39)	I359K	probably damaging	Het
Mcoln3	A	G	3: 145,839,664 (GRCm39)	N339D	probably benign	Het
Mrpl19	G	A	6: 81,942,758 (GRCm39)	P51S	probably benign	Het
Nadk	C	A	4: 155,663,763 (GRCm39)		probably benign	Het
Or5an11	A	G	19: 12,246,374 (GRCm39)	Y260C	probably damaging	Het
Or5d39	T	A	2: 87,979,632 (GRCm39)	T244S	probably benign	Het
Pappa2	T	G	1: 158,672,695 (GRCm39)	I1083L	probably benign	Het
R3hdm2	A	G	10: 127,334,421 (GRCm39)	D948G	probably damaging	Het
Rbm15	A	T	3: 107,237,596 (GRCm39)	L934Q	probably damaging	Het
Rec8	T	A	14: 55,862,336 (GRCm39)		probably null	Het
Riok1	A	G	13: 38,243,932 (GRCm39)	E486G	possibly damaging	Het
Rptn	A	C	3: 93,302,404 (GRCm39)	E40A	possibly damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc40a1	T	C	1: 45,950,688 (GRCm39)	T255A	probably benign	Het
Slc5a8	A	T	10: 88,755,362 (GRCm39)	M490L	probably benign	Het
Sned1	C	A	1: 93,209,447 (GRCm39)	C62*	probably null	Het
Sptbn4	T	C	7: 27,063,782 (GRCm39)	T2215A	probably benign	Het
Synpo	T	A	18: 60,736,528 (GRCm39)	R234W	probably damaging	Het
Tmco3	A	T	8: 13,342,706 (GRCm39)		probably benign	Het
Tmprss13	A	G	9: 45,244,972 (GRCm39)	D250G	probably benign	Het
Vmn2r31	T	A	7: 7,397,548 (GRCm39)	I237F	probably damaging	Het
Wdr90	A	G	17: 26,078,466 (GRCm39)	V306A	probably benign	Het
Zfp629	A	G	7: 127,211,890 (GRCm39)	W8R	probably damaging	Het
Zim1	T	C	7: 6,681,253 (GRCm39)	T137A	probably benign	Het

Other mutations in Ap4s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5334:Ap4s1	UTSW	12	51,785,454 (GRCm39)	missense	probably benign	0.06
R7445:Ap4s1	UTSW	12	51,785,424 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16