Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Ap5s1'

284910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap5s1

Ensembl Gene

ENSMUSG00000068264

Gene Name

adaptor-related protein 5 complex, sigma 1 subunit

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

131207078-131213514 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 131212967 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089506] [ENSMUST00000110206] [ENSMUST00000110208] [ENSMUST00000110210] [ENSMUST00000153097]

Predicted Effect

unknown
Transcript: ENSMUST00000089506
AA Change: V203E

SMART Domains

Protein: ENSMUSP00000086933
Gene: ENSMUSG00000068264
AA Change: V203E

Domain	Start	End	E-Value	Type
Pfam:AP-5_subunit_s1	1	162	1.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110206

SMART Domains

Protein: ENSMUSP00000105835
Gene: ENSMUSG00000068264

Domain	Start	End	E-Value	Type
Pfam:AP-5_subunit_s1	1	68	3.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110208

SMART Domains

Protein: ENSMUSP00000105837
Gene: ENSMUSG00000068264

Domain	Start	End	E-Value	Type
Pfam:AP-5_subunit_s1	1	195	6.7e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110210

SMART Domains

Protein: ENSMUSP00000105839
Gene: ENSMUSG00000068264

Domain	Start	End	E-Value	Type
Pfam:AP-5_subunit_s1	1	162	8.2e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143546

Predicted Effect

probably benign
Transcript: ENSMUST00000153097

SMART Domains

Protein: ENSMUSP00000121488
Gene: ENSMUSG00000068264

Domain	Start	End	E-Value	Type
Pfam:AP-5_subunit_s1	1	99	6.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153901

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,905,164	M241L	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Ap5s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01715:Ap5s1	APN	2	131211373	missense	probably damaging	1.00
R0838:Ap5s1	UTSW	2	131211431	missense	probably damaging	1.00
R6018:Ap5s1	UTSW	2	131212995	nonsense	probably null
R7035:Ap5s1	UTSW	2	131212812	missense	probably damaging	1.00
R7348:Ap5s1	UTSW	2	131212652	missense	possibly damaging	0.58
R7356:Ap5s1	UTSW	2	131212662	missense	probably damaging	1.00
R7585:Ap5s1	UTSW	2	131212562	missense	probably damaging	0.99
R7683:Ap5s1	UTSW	2	131212707	missense	probably damaging	0.98
R8289:Ap5s1	UTSW	2	131212459	missense	probably benign	0.03

Posted On

2015-04-16