Mutagenetix > Incidental Mutations

Incidental Mutation 'R0054:Gsap'

40979

Institutional Source

Beutler Lab

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

MMRRC Submission

038348-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21186255-21315132 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 21250935 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198071] [ENSMUST00000198937]

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

noncoding transcript
Transcript: ENSMUST00000196035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197522

Predicted Effect

probably benign
Transcript: ENSMUST00000198014

Predicted Effect

probably benign
Transcript: ENSMUST00000198071

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,601,774		probably null	Het
Ahnak	T	A	19: 9,012,056	V3568E	probably damaging	Het
Alpi	T	C	1: 87,099,765	E293G	possibly damaging	Het
Apoa4	A	G	9: 46,242,524	D141G	probably benign	Het
Arntl2	T	G	6: 146,829,718	V507G	probably benign	Het
Atg9a	T	C	1: 75,184,499	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,932,166	R922Q	probably damaging	Het
Bpnt1	G	A	1: 185,341,216		probably benign	Het
Brms1	T	A	19: 5,046,699	C136*	probably null	Het
Ccdc129	T	C	6: 55,872,472		probably benign	Het
Ccdc180	T	A	4: 45,890,900	V24E	probably benign	Het
Cdh17	A	G	4: 11,785,186	Y326C	possibly damaging	Het
Cgn	A	T	3: 94,762,592	D1080E	possibly damaging	Het
Clec4f	C	T	6: 83,652,929	V216M	probably benign	Het
Cpd	C	G	11: 76,790,838	G1160R	probably damaging	Het
Csf2ra	A	G	19: 61,226,597	L143P	probably damaging	Het
Ddb2	G	T	2: 91,234,820	Q87K	probably benign	Het
Defb41	A	G	1: 18,251,247	Y48H	probably damaging	Het
Dido1	T	C	2: 180,661,474	N1546D	probably benign	Het
Dll1	A	T	17: 15,368,954	H486Q	probably damaging	Het
Dmac1	A	G	4: 75,278,100	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,862,619	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,807,579	D457N	probably damaging	Het
Eif3a	C	A	19: 60,766,826	D973Y	unknown	Het
Entpd3	T	A	9: 120,557,542	N196K	probably damaging	Het
Fam53a	C	A	5: 33,607,732	G210V	probably damaging	Het
Farsb	T	A	1: 78,462,374	K395*	probably null	Het
Fem1b	A	G	9: 62,796,800	S393P	probably damaging	Het
Fsip2	T	A	2: 82,976,608	D1090E	probably damaging	Het
Fsip2	A	C	2: 82,986,955	N4344T	possibly damaging	Het
Gata3	G	A	2: 9,858,447	P419S	probably damaging	Het
Gm13023	T	A	4: 143,795,002	L396H	probably damaging	Het
Gm7247	T	A	14: 51,569,600		probably benign	Het
Gphn	A	G	12: 78,637,503	S558G	probably damaging	Het
Gpr142	C	A	11: 114,798,929	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915		probably benign	Het
Grik3	C	A	4: 125,623,575	N70K	probably damaging	Het
Iars	T	A	13: 49,693,135	C237S	probably damaging	Het
Kank2	G	A	9: 21,774,674	R635*	probably null	Het
Kcnj16	G	T	11: 111,024,723	W70C	probably damaging	Het
Kpna6	T	C	4: 129,657,458	M85V	probably benign	Het
Kri1	G	A	9: 21,275,365	S447L	probably damaging	Het
L2hgdh	G	A	12: 69,721,331	P131L	possibly damaging	Het
Lrp1b	A	G	2: 40,742,817	V3528A	probably benign	Het
Lrrc46	A	T	11: 97,038,779	L77Q	probably damaging	Het
Mdc1	A	G	17: 35,849,033	T678A	probably benign	Het
Mrpl44	T	C	1: 79,779,495	L219S	probably damaging	Het
Myo7a	T	C	7: 98,065,698	D112G	probably damaging	Het
Ncoa3	A	G	2: 166,055,178	T630A	possibly damaging	Het
Nsl1	T	C	1: 191,082,184	L194P	probably damaging	Het
Olfr1037	T	C	2: 86,085,361	K139E	probably benign	Het
Olfr1285	G	A	2: 111,408,795	G127S	probably benign	Het
Olfr205	T	C	16: 59,329,065	Y148C	possibly damaging	Het
Pde4d	A	G	13: 109,740,421	S159G	probably benign	Het
Pi4ka	T	C	16: 17,325,114	R845G	probably null	Het
Pld1	A	G	3: 28,095,884		probably benign	Het
Psd	T	A	19: 46,323,342	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,196	W332R	probably damaging	Het
Rab3d	A	T	9: 21,915,926	S3T	possibly damaging	Het
Rnf212	T	A	5: 108,745,664	M70L	possibly damaging	Het
Scd3	A	G	19: 44,215,637	Y88C	probably damaging	Het
Sema4f	A	G	6: 82,919,693		probably benign	Het
Sez6	C	A	11: 77,953,873	T7K	possibly damaging	Het
Skint2	T	C	4: 112,645,463	I290T	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc5a3	T	A	16: 92,077,634	I193N	probably damaging	Het
Slc5a4a	A	G	10: 76,178,197	I413V	probably null	Het
Snip1	T	A	4: 125,072,840	Y354*	probably null	Het
Spata31d1c	A	G	13: 65,033,062		probably benign	Het
Speer2	G	A	16: 69,858,752	T62M	probably damaging	Het
Tmco5	A	G	2: 116,887,287	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,831,441		probably benign	Het
Trim43c	A	T	9: 88,847,515	K336N	probably damaging	Het
Trim60	T	C	8: 65,001,321	E92G	probably benign	Het
Ttc21a	C	A	9: 119,943,940	Q228K	probably damaging	Het
Ttn	A	T	2: 76,796,460	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087	I168N	probably damaging	Het
Vmn1r167	T	G	7: 23,504,909	R227S	possibly damaging	Het
Vmn2r25	T	A	6: 123,853,025	I56L	probably benign	Het
Zfp385c	G	A	11: 100,629,956	P293S	probably benign	Het
Zfp473	T	A	7: 44,734,475	S144C	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
IGL02061:Gsap	APN	5	21281611	splice site	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
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- AAGGAGCCCTTCCTGTTGCTTG -3'
(R):5'- CAGTGCAGCCATTCTCTCACAGTC -3'

Sequencing Primer
(F):5'- GGATGGTGGATAACTCCAATCTCTC -3'
(R):5'- ATTCTCTCACAGTCGAGATGG -3'

Posted On

2013-05-23