Mutagenetix > Incidental Mutation

Incidental Mutation 'R7013:Gsap'

545118

Institutional Source

Beutler Lab

Gene Symbol

Gsap

Ensembl Gene

ENSMUSG00000039934

Gene Name

gamma-secretase activating protein

Synonyms

A530088I07Rik, Pion

MMRRC Submission

045114-MU

Accession Numbers

Essential gene?

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

Stock #

R7013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21483108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 604 (E604D)

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
AA Change: E635D

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: E635D

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
AA Change: E604D

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: E604D

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

0.0757

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,345 (GRCm39)	I213V	probably null	Het
Abcc4	A	T	14: 118,763,755 (GRCm39)	C952S	probably benign	Het
Adhfe1	T	C	1: 9,620,816 (GRCm39)		probably benign	Het
Apob	T	A	12: 8,060,080 (GRCm39)	L2854*	probably null	Het
Arhgap5	T	A	12: 52,565,109 (GRCm39)	N693K	probably benign	Het
Arid5b	A	G	10: 67,933,649 (GRCm39)	V508A	probably damaging	Het
Atl1	A	G	12: 70,000,214 (GRCm39)	E288G	probably damaging	Het
Bank1	A	G	3: 135,806,270 (GRCm39)	S455P	possibly damaging	Het
Ces1c	A	T	8: 93,857,392 (GRCm39)	L63Q	probably damaging	Het
Crmp1	A	T	5: 37,426,036 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,780 (GRCm39)	D528G	unknown	Het
Dact2	T	C	17: 14,423,796 (GRCm39)	T66A	probably benign	Het
Dkk2	T	C	3: 131,880,760 (GRCm39)	L135P	probably damaging	Het
Drc3	A	G	11: 60,278,129 (GRCm39)	N381S	probably benign	Het
Dsg4	T	C	18: 20,591,578 (GRCm39)	V439A	possibly damaging	Het
Dysf	C	T	6: 84,114,340 (GRCm39)	P1240S	probably damaging	Het
Esyt1	A	T	10: 128,361,520 (GRCm39)	V58E	probably damaging	Het
Exo1	G	T	1: 175,721,338 (GRCm39)	A326S	probably damaging	Het
Fam20b	A	G	1: 156,518,135 (GRCm39)	S220P	probably damaging	Het
Fmo6	G	A	1: 162,745,817 (GRCm39)	T402I	probably benign	Het
Galnt10	A	T	11: 57,656,410 (GRCm39)	D198V	probably benign	Het
Il20rb	A	G	9: 100,343,481 (GRCm39)	Y258H	probably benign	Het
Impg1	A	T	9: 80,285,776 (GRCm39)	S409R	probably damaging	Het
Jak3	G	T	8: 72,131,425 (GRCm39)	V97F	possibly damaging	Het
Lbhd1	T	C	19: 8,861,523 (GRCm39)	S52P	probably damaging	Het
Lman2l	A	G	1: 36,482,599 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,788,625 (GRCm39)	M493I	probably benign	Het
Mpp4	T	C	1: 59,188,774 (GRCm39)	D132G	probably damaging	Het
Nlrp1a	G	A	11: 71,014,378 (GRCm39)	R291W	probably benign	Het
Or1e23	G	T	11: 73,407,247 (GRCm39)	Y259*	probably null	Het
Or4a79	T	A	2: 89,551,730 (GRCm39)	I242F	probably benign	Het
Or4b13	C	T	2: 90,082,441 (GRCm39)	R297Q	possibly damaging	Het
Or4f15	G	A	2: 111,814,308 (GRCm39)	A37V	probably benign	Het
Or4n4b	T	A	14: 50,536,656 (GRCm39)	I37F	probably damaging	Het
Orc5	A	G	5: 22,738,787 (GRCm39)	V158A	probably benign	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pcdhga3	A	G	18: 37,808,674 (GRCm39)	N376D	probably damaging	Het
Ptprr	T	A	10: 116,072,659 (GRCm39)	I207N	probably damaging	Het
Recql5	A	G	11: 115,785,402 (GRCm39)	V698A	probably benign	Het
Rnf212	A	T	5: 108,877,826 (GRCm39)	M222K	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Smap2	T	C	4: 120,839,365 (GRCm39)	K121E	probably damaging	Het
Syt11	A	T	3: 88,655,296 (GRCm39)	V335D	possibly damaging	Het
Terb1	A	T	8: 105,215,222 (GRCm39)	C251*	probably null	Het
Tmprss11d	C	A	5: 86,474,432 (GRCm39)	R37L	probably damaging	Het
Ttbk2	T	C	2: 120,576,265 (GRCm39)	N904S	possibly damaging	Het
Vmn1r119	T	A	7: 20,745,714 (GRCm39)	I223F	probably damaging	Het
Vmn1r66	T	C	7: 10,008,683 (GRCm39)	R117G	possibly damaging	Het
Zfp106	T	C	2: 120,362,113 (GRCm39)	D1025G	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
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
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
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'- AATTGAGAGCCGTGTGCCTTTG -3'
(R):5'- ACTTCACCTGGACATGCAC -3'

Sequencing Primer
(F):5'- AGCAGGCATGGTTTCTTTTCTAAGC -3'
(R):5'- ACACATGCACGTACATACACC -3'

Posted On

2019-05-13