Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Gsap'

185427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

21186255-21315132 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 21281611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198937]

AlphaFold

Q3TCV3

Predicted Effect

probably benign
Transcript: ENSMUST00000036031

SMART Domains

Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934

Domain	Start	End	E-Value	Type
low complexity region	386	398	N/A	INTRINSIC
Pfam:GSAP-16	646	753	6.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195969

Predicted Effect

probably benign
Transcript: ENSMUST00000198014

Predicted Effect

probably benign
Transcript: ENSMUST00000198937

SMART Domains

Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934

Domain	Start	End	E-Value	Type
low complexity region	355	367	N/A	INTRINSIC
Pfam:GSAP-16	608	722	1.6e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199242

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,794,657	D3E	probably benign	Het
Atp4a	A	G	7: 30,715,029	Y159C	probably damaging	Het
Card10	A	G	15: 78,778,215	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,221,743	V279A	probably damaging	Het
Cndp1	G	A	18: 84,634,626	R136W	probably damaging	Het
Eif2b3	A	G	4: 117,028,411	E50G	possibly damaging	Het
Eva1c	C	T	16: 90,866,275	Q67*	probably null	Het
Exoc1	A	G	5: 76,542,120	E169G	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fsd2	T	A	7: 81,540,424	K537*	probably null	Het
Gbf1	T	G	19: 46,279,258	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,699,417		probably benign	Het
Hdac6	A	C	X: 7,943,639		probably null	Het
Ivns1abp	T	A	1: 151,351,573	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,900,482		probably null	Het
Kdm2b	A	G	5: 122,883,341	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,540,582	P76S	probably benign	Het
Nbea	A	G	3: 55,717,887	I2261T	possibly damaging	Het
Oasl1	G	A	5: 114,923,592	V61M	probably damaging	Het
Olfr1288	T	A	2: 111,479,269	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,774,993	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,450,627	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,797,863	T66A	probably benign	Het
Prss55	A	G	14: 64,075,743	Y231H	possibly damaging	Het
Psmb10	T	C	8: 105,937,711	T38A	probably damaging	Het
Rfx5	A	G	3: 94,958,481	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,943,185	N107S	probably benign	Het
Seh1l	A	G	18: 67,787,258		probably benign	Het
Sod1	T	A	16: 90,225,238	H111Q	probably benign	Het
Thbs2	A	T	17: 14,679,914	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526	A740V	probably damaging	Het
Tra2a	A	G	6: 49,249,098	V136A	possibly damaging	Het
Ttc37	T	A	13: 76,129,541		probably null	Het
Utp18	T	C	11: 93,882,141	D158G	probably benign	Het
Zfp524	A	G	7: 5,017,872	E133G	probably damaging	Het

Other mutations in Gsap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Gsap	APN	5	21221305	splice site	probably benign
IGL00788:Gsap	APN	5	21254024	missense	probably damaging	0.96
IGL01344:Gsap	APN	5	21242883	critical splice donor site	probably null
IGL01347:Gsap	APN	5	21226320	missense	probably benign	0.08
IGL01618:Gsap	APN	5	21226248	missense	probably damaging	1.00
IGL01730:Gsap	APN	5	21290154	unclassified	probably benign
IGL02161:Gsap	APN	5	21253379	missense	probably damaging	1.00
IGL02259:Gsap	APN	5	21186400	missense	probably benign	0.01
IGL02635:Gsap	APN	5	21289816	missense	probably damaging	1.00
IGL02684:Gsap	APN	5	21242803	critical splice acceptor site	probably null
IGL02822:Gsap	APN	5	21217444	missense	probably damaging	1.00
IGL03231:Gsap	APN	5	21229166	missense	probably damaging	0.99
PIT4305001:Gsap	UTSW	5	21186409	missense	probably damaging	0.98
R0012:Gsap	UTSW	5	21226229	splice site	probably benign
R0012:Gsap	UTSW	5	21226229	splice site	probably benign
R0019:Gsap	UTSW	5	21270622	splice site	probably benign
R0019:Gsap	UTSW	5	21270622	splice site	probably benign
R0045:Gsap	UTSW	5	21226832	missense	possibly damaging	0.77
R0054:Gsap	UTSW	5	21250935	splice site	probably benign
R0054:Gsap	UTSW	5	21250935	splice site	probably benign
R0409:Gsap	UTSW	5	21222445	splice site	probably benign
R0507:Gsap	UTSW	5	21269963	missense	possibly damaging	0.75
R0624:Gsap	UTSW	5	21253951	splice site	probably null
R1037:Gsap	UTSW	5	21251165	splice site	probably benign
R1076:Gsap	UTSW	5	21287694	missense	possibly damaging	0.75
R1459:Gsap	UTSW	5	21207238	splice site	probably benign
R1757:Gsap	UTSW	5	21281037	missense	probably damaging	0.98
R1852:Gsap	UTSW	5	21290545	splice site	probably null
R2034:Gsap	UTSW	5	21270595	missense	probably damaging	1.00
R2069:Gsap	UTSW	5	21226839	splice site	probably benign
R2125:Gsap	UTSW	5	21242813	missense	probably damaging	1.00
R2172:Gsap	UTSW	5	21222440	critical splice donor site	probably null
R2310:Gsap	UTSW	5	21196090	nonsense	probably null
R2337:Gsap	UTSW	5	21288630	missense	probably damaging	1.00
R3442:Gsap	UTSW	5	21278127	missense	probably damaging	1.00
R4229:Gsap	UTSW	5	21246977	missense	probably benign	0.00
R4271:Gsap	UTSW	5	21226350	critical splice donor site	probably null
R4551:Gsap	UTSW	5	21290571	missense	probably damaging	1.00
R4553:Gsap	UTSW	5	21290571	missense	probably damaging	1.00
R4649:Gsap	UTSW	5	21226311	missense	probably damaging	1.00
R4687:Gsap	UTSW	5	21246971	utr 3 prime	probably benign
R4799:Gsap	UTSW	5	21250943	missense	probably benign	0.05
R4857:Gsap	UTSW	5	21287799	splice site	probably null
R4973:Gsap	UTSW	5	21254039	missense	probably benign	0.04
R5015:Gsap	UTSW	5	21222408	missense	probably damaging	1.00
R5031:Gsap	UTSW	5	21242826	missense	possibly damaging	0.57
R5120:Gsap	UTSW	5	21269936	missense	probably damaging	0.96
R5451:Gsap	UTSW	5	21217447	missense	probably damaging	1.00
R5469:Gsap	UTSW	5	21290544	missense	possibly damaging	0.92
R5519:Gsap	UTSW	5	21289859	missense	probably damaging	1.00
R5588:Gsap	UTSW	5	21251149	missense	probably damaging	1.00
R5650:Gsap	UTSW	5	21251053	missense	probably damaging	0.99
R6064:Gsap	UTSW	5	21229225	missense	possibly damaging	0.56
R6139:Gsap	UTSW	5	21281540	missense	probably damaging	1.00
R6148:Gsap	UTSW	5	21226325	missense	probably damaging	1.00
R6148:Gsap	UTSW	5	21270577	missense	probably benign	0.39
R6226:Gsap	UTSW	5	21217431	missense	probably damaging	1.00
R6859:Gsap	UTSW	5	21281018	missense	probably damaging	0.99
R6977:Gsap	UTSW	5	21271221	missense	probably damaging	1.00
R6995:Gsap	UTSW	5	21271237	missense	possibly damaging	0.58
R7013:Gsap	UTSW	5	21278110	missense	probably benign	0.39
R7159:Gsap	UTSW	5	21270620	splice site	probably null
R7181:Gsap	UTSW	5	21253429	missense	probably damaging	1.00
R7234:Gsap	UTSW	5	21186435	missense	probably benign
R7332:Gsap	UTSW	5	21290121	missense	probably benign	0.00
R7381:Gsap	UTSW	5	21226787	missense	probably damaging	0.96
R8047:Gsap	UTSW	5	21257868	critical splice acceptor site	probably null
R8062:Gsap	UTSW	5	21194463	missense	probably damaging	1.00
R8126:Gsap	UTSW	5	21270012	missense	probably benign	0.04
R8219:Gsap	UTSW	5	21251115	missense	probably benign	0.00
R8355:Gsap	UTSW	5	21251019	nonsense	probably null
R8472:Gsap	UTSW	5	21222434	nonsense	probably null
R8715:Gsap	UTSW	5	21226247	missense	possibly damaging	0.84
R8745:Gsap	UTSW	5	21269951	missense	probably benign	0.05
R8798:Gsap	UTSW	5	21271250	critical splice donor site	probably null
R9080:Gsap	UTSW	5	21194412	missense	possibly damaging	0.52
R9120:Gsap	UTSW	5	21253436	missense	probably damaging	1.00
R9178:Gsap	UTSW	5	21217473	missense	probably damaging	0.98
R9209:Gsap	UTSW	5	21228066	missense	probably benign	0.10
R9404:Gsap	UTSW	5	21269921	missense	probably damaging	1.00
Z1177:Gsap	UTSW	5	21251032	missense	probably damaging	0.98

Posted On

2014-05-07