Mutagenetix > Incidental Mutation

Incidental Mutation 'R1076:Gsap'

85645

Institutional Source

Beutler Lab

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

MMRRC Submission

039162-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R1076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21492692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 707 (T707A)

Ref Sequence

ENSEMBL: ENSMUSP00000043679 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198930] [ENSMUST00000198937]

AlphaFold

Q3TCV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036031
AA Change: T707A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: T707A

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: ENSMUST00000198930

Predicted Effect

probably benign
Transcript: ENSMUST00000198937
AA Change: T676A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: T676A

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: ENSMUST00000199553

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

100% (39/39)

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
Ang4	T	C	14: 52,001,759 (GRCm39)	K63R	probably damaging	Het
Ankrd50	T	C	3: 38,509,071 (GRCm39)	N176D	probably damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Cldn4	A	G	5: 134,975,191 (GRCm39)	S137P	probably damaging	Het
Cnn1	A	T	9: 22,019,165 (GRCm39)	Q157L	probably damaging	Het
Csn1s1	A	T	5: 87,824,242 (GRCm39)		probably null	Het
Dennd3	C	T	15: 73,412,582 (GRCm39)	H415Y	probably damaging	Het
Dnpep	A	G	1: 75,292,582 (GRCm39)		probably benign	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Elovl2	A	G	13: 41,343,583 (GRCm39)	V115A	possibly damaging	Het
Fryl	C	T	5: 73,282,016 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ktn1	T	A	14: 47,932,095 (GRCm39)	M674K	probably damaging	Het
Larp4	A	G	15: 99,895,311 (GRCm39)	T295A	probably benign	Het
Lrp1	T	C	10: 127,399,666 (GRCm39)		probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mctp2	T	G	7: 71,835,615 (GRCm39)		probably null	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Neb	A	G	2: 52,094,904 (GRCm39)	Y4883H	probably damaging	Het
Nsun6	A	T	2: 15,014,283 (GRCm39)	C286S	probably benign	Het
Pabpc4	T	A	4: 123,186,701 (GRCm39)	D307E	possibly damaging	Het
Pik3cg	G	A	12: 32,245,713 (GRCm39)		probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Serpina3k	A	G	12: 104,307,253 (GRCm39)	T162A	probably benign	Het
Sis	T	C	3: 72,841,431 (GRCm39)	T795A	probably damaging	Het
Skint8	T	A	4: 111,784,416 (GRCm39)	V14E	probably damaging	Het
Slc2a1	T	G	4: 118,991,645 (GRCm39)	M351R	probably damaging	Het
Slc41a3	G	A	6: 90,621,142 (GRCm39)	C394Y	probably benign	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Ulk2	G	A	11: 61,710,135 (GRCm39)	H358Y	probably damaging	Het
Utp20	A	T	10: 88,608,405 (GRCm39)	I1544N	possibly damaging	Het
Utp20	A	G	10: 88,608,321 (GRCm39)	M1572T	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably 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
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
R2069:Gsap	UTSW	5	21,431,837 (GRCm39)	splice site	probably benign
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'- TAAAAGGATTGGCTGACCCAAGCCC -3'
(R):5'- ACTTTCAACTGGCCTGAAGGAATGG -3'

Sequencing Primer
(F):5'- CCCTAAGCAAGCTCAGCG -3'
(R):5'- gcctgtgtgtcacataccc -3'

Posted On

2013-11-18