Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Gsap'

226929

Institutional Source

Beutler Lab

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 21431837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142986 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abcc3	A	T	11: 94,255,243 (GRCm39)	I601N	probably damaging	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,429 (GRCm39)	F37S	probably benign	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Pxn	A	G	5: 115,683,726 (GRCm39)	N186S	probably benign	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,859,397 (GRCm39)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	possibly damaging	Het

Other mutations in Gsap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Gsap	APN	5	21,459,022 (GRCm39)	missense	probably damaging	0.96
IGL00788:Gsap	APN	5	21,426,303 (GRCm39)	splice site	probably benign
IGL01344:Gsap	APN	5	21,447,881 (GRCm39)	critical splice donor site	probably null
IGL01347:Gsap	APN	5	21,431,318 (GRCm39)	missense	probably benign	0.08
IGL01618:Gsap	APN	5	21,431,246 (GRCm39)	missense	probably damaging	1.00
IGL01730:Gsap	APN	5	21,495,152 (GRCm39)	unclassified	probably benign
IGL02061:Gsap	APN	5	21,486,609 (GRCm39)	splice site	probably benign
IGL02161:Gsap	APN	5	21,458,377 (GRCm39)	missense	probably damaging	1.00
IGL02259:Gsap	APN	5	21,391,398 (GRCm39)	missense	probably benign	0.01
IGL02635:Gsap	APN	5	21,494,814 (GRCm39)	missense	probably damaging	1.00
IGL02684:Gsap	APN	5	21,447,801 (GRCm39)	critical splice acceptor site	probably null
IGL02822:Gsap	APN	5	21,422,442 (GRCm39)	missense	probably damaging	1.00
IGL03231:Gsap	APN	5	21,434,164 (GRCm39)	missense	probably damaging	0.99
PIT4305001:Gsap	UTSW	5	21,391,407 (GRCm39)	missense	probably damaging	0.98
R0012:Gsap	UTSW	5	21,431,227 (GRCm39)	splice site	probably benign
R0012:Gsap	UTSW	5	21,431,227 (GRCm39)	splice site	probably benign
R0019:Gsap	UTSW	5	21,475,620 (GRCm39)	splice site	probably benign
R0019:Gsap	UTSW	5	21,475,620 (GRCm39)	splice site	probably benign
R0045:Gsap	UTSW	5	21,431,830 (GRCm39)	missense	possibly damaging	0.77
R0054:Gsap	UTSW	5	21,455,933 (GRCm39)	splice site	probably benign
R0054:Gsap	UTSW	5	21,455,933 (GRCm39)	splice site	probably benign
R0409:Gsap	UTSW	5	21,427,443 (GRCm39)	splice site	probably benign
R0507:Gsap	UTSW	5	21,474,961 (GRCm39)	missense	possibly damaging	0.75
R0624:Gsap	UTSW	5	21,458,949 (GRCm39)	splice site	probably null
R1037:Gsap	UTSW	5	21,456,163 (GRCm39)	splice site	probably benign
R1076:Gsap	UTSW	5	21,492,692 (GRCm39)	missense	possibly damaging	0.75
R1459:Gsap	UTSW	5	21,412,236 (GRCm39)	splice site	probably benign
R1757:Gsap	UTSW	5	21,486,035 (GRCm39)	missense	probably damaging	0.98
R1852:Gsap	UTSW	5	21,495,543 (GRCm39)	splice site	probably null
R2034:Gsap	UTSW	5	21,475,593 (GRCm39)	missense	probably damaging	1.00
R2125:Gsap	UTSW	5	21,447,811 (GRCm39)	missense	probably damaging	1.00
R2172:Gsap	UTSW	5	21,427,438 (GRCm39)	critical splice donor site	probably null
R2310:Gsap	UTSW	5	21,401,088 (GRCm39)	nonsense	probably null
R2337:Gsap	UTSW	5	21,493,628 (GRCm39)	missense	probably damaging	1.00
R3442:Gsap	UTSW	5	21,483,125 (GRCm39)	missense	probably damaging	1.00
R4229:Gsap	UTSW	5	21,451,975 (GRCm39)	missense	probably benign	0.00
R4271:Gsap	UTSW	5	21,431,348 (GRCm39)	critical splice donor site	probably null
R4551:Gsap	UTSW	5	21,495,569 (GRCm39)	missense	probably damaging	1.00
R4553:Gsap	UTSW	5	21,495,569 (GRCm39)	missense	probably damaging	1.00
R4649:Gsap	UTSW	5	21,431,309 (GRCm39)	missense	probably damaging	1.00
R4687:Gsap	UTSW	5	21,451,969 (GRCm39)	utr 3 prime	probably benign
R4799:Gsap	UTSW	5	21,455,941 (GRCm39)	missense	probably benign	0.05
R4857:Gsap	UTSW	5	21,492,797 (GRCm39)	splice site	probably null
R4973:Gsap	UTSW	5	21,459,037 (GRCm39)	missense	probably benign	0.04
R5015:Gsap	UTSW	5	21,427,406 (GRCm39)	missense	probably damaging	1.00
R5031:Gsap	UTSW	5	21,447,824 (GRCm39)	missense	possibly damaging	0.57
R5120:Gsap	UTSW	5	21,474,934 (GRCm39)	missense	probably damaging	0.96
R5451:Gsap	UTSW	5	21,422,445 (GRCm39)	missense	probably damaging	1.00
R5469:Gsap	UTSW	5	21,495,542 (GRCm39)	missense	possibly damaging	0.92
R5519:Gsap	UTSW	5	21,494,857 (GRCm39)	missense	probably damaging	1.00
R5588:Gsap	UTSW	5	21,456,147 (GRCm39)	missense	probably damaging	1.00
R5650:Gsap	UTSW	5	21,456,051 (GRCm39)	missense	probably damaging	0.99
R6064:Gsap	UTSW	5	21,434,223 (GRCm39)	missense	possibly damaging	0.56
R6139:Gsap	UTSW	5	21,486,538 (GRCm39)	missense	probably damaging	1.00
R6148:Gsap	UTSW	5	21,475,575 (GRCm39)	missense	probably benign	0.39
R6148:Gsap	UTSW	5	21,431,323 (GRCm39)	missense	probably damaging	1.00
R6226:Gsap	UTSW	5	21,422,429 (GRCm39)	missense	probably damaging	1.00
R6859:Gsap	UTSW	5	21,486,016 (GRCm39)	missense	probably damaging	0.99
R6977:Gsap	UTSW	5	21,476,219 (GRCm39)	missense	probably damaging	1.00
R6995:Gsap	UTSW	5	21,476,235 (GRCm39)	missense	possibly damaging	0.58
R7013:Gsap	UTSW	5	21,483,108 (GRCm39)	missense	probably benign	0.39
R7159:Gsap	UTSW	5	21,475,618 (GRCm39)	splice site	probably null
R7181:Gsap	UTSW	5	21,458,427 (GRCm39)	missense	probably damaging	1.00
R7234:Gsap	UTSW	5	21,391,433 (GRCm39)	missense	probably benign
R7332:Gsap	UTSW	5	21,495,119 (GRCm39)	missense	probably benign	0.00
R7381:Gsap	UTSW	5	21,431,785 (GRCm39)	missense	probably damaging	0.96
R8047:Gsap	UTSW	5	21,462,866 (GRCm39)	critical splice acceptor site	probably null
R8062:Gsap	UTSW	5	21,399,461 (GRCm39)	missense	probably damaging	1.00
R8126:Gsap	UTSW	5	21,475,010 (GRCm39)	missense	probably benign	0.04
R8219:Gsap	UTSW	5	21,456,113 (GRCm39)	missense	probably benign	0.00
R8355:Gsap	UTSW	5	21,456,017 (GRCm39)	nonsense	probably null
R8472:Gsap	UTSW	5	21,427,432 (GRCm39)	nonsense	probably null
R8715:Gsap	UTSW	5	21,431,245 (GRCm39)	missense	possibly damaging	0.84
R8745:Gsap	UTSW	5	21,474,949 (GRCm39)	missense	probably benign	0.05
R8798:Gsap	UTSW	5	21,476,248 (GRCm39)	critical splice donor site	probably null
R9080:Gsap	UTSW	5	21,399,410 (GRCm39)	missense	possibly damaging	0.52
R9120:Gsap	UTSW	5	21,458,434 (GRCm39)	missense	probably damaging	1.00
R9178:Gsap	UTSW	5	21,422,471 (GRCm39)	missense	probably damaging	0.98
R9209:Gsap	UTSW	5	21,433,064 (GRCm39)	missense	probably benign	0.10
R9404:Gsap	UTSW	5	21,474,919 (GRCm39)	missense	probably damaging	1.00
Z1177:Gsap	UTSW	5	21,456,030 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTTAATGGGGCAGTCAGTGAG -3'
(R):5'- TCTACGTCCCTGTTAGGTGG -3'

Sequencing Primer
(F):5'- CAGTCAGTGAGGGTCTATTACAG -3'
(R):5'- AACACACTCTCCTGTGCATGG -3'

Posted On

2014-09-17