Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02822:Gsap'

361061

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: 0.125) question?

Stock #

IGL02822

Quality Score

Status

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21422442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 137 (V137D)

Ref Sequence

ENSEMBL: ENSMUSP00000142560 (fasta)

Gene Model

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

AlphaFold

Q3TCV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000036031
AA Change: V137D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043679
Gene: ENSMUSG00000039934
AA Change: V137D

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 damaging
Transcript: ENSMUST00000195969
AA Change: V137D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197522

Predicted Effect

probably damaging
Transcript: ENSMUST00000198014
AA Change: V137D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000198071
AA Change: V137D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000198937
AA Change: V137D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142986
Gene: ENSMUSG00000039934
AA Change: V137D

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: ENSMUST00000199108

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	C	16: 88,971,683 (GRCm39)	C2R	unknown	Het
Aldh1a7	A	G	19: 20,679,630 (GRCm39)	V382A	possibly damaging	Het
Asap2	T	C	12: 21,315,911 (GRCm39)	V943A	probably damaging	Het
Bod1l	C	T	5: 41,951,688 (GRCm39)	V2908M	possibly damaging	Het
Casd1	C	T	6: 4,630,017 (GRCm39)	T471I	probably damaging	Het
Cd200l1	T	C	16: 45,262,968 (GRCm39)	Y57C	probably damaging	Het
Col20a1	T	C	2: 180,638,600 (GRCm39)	Y405H	probably damaging	Het
Elp1	A	G	4: 56,774,520 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,237,248 (GRCm39)	I117T	probably damaging	Het
Fbxw5	A	G	2: 25,393,022 (GRCm39)	N164S	probably benign	Het
Fga	A	G	3: 82,938,789 (GRCm39)	E388G	probably damaging	Het
Fgfr1	A	G	8: 26,047,818 (GRCm39)	T55A	probably benign	Het
Gdpd4	T	C	7: 97,621,131 (GRCm39)	V148A	possibly damaging	Het
Hsdl2	A	G	4: 59,601,379 (GRCm39)	H117R	possibly damaging	Het
Htr4	T	A	18: 62,561,255 (GRCm39)		probably benign	Het
Ifitm1	T	C	7: 140,548,191 (GRCm39)	V8A	possibly damaging	Het
Kdelr1	A	G	7: 45,523,288 (GRCm39)		probably benign	Het
Klra6	G	T	6: 129,993,673 (GRCm39)	Y199*	probably null	Het
Matcap1	T	C	8: 106,011,330 (GRCm39)	Y268C	probably damaging	Het
Mmp21	C	T	7: 133,277,828 (GRCm39)	D333N	possibly damaging	Het
Mocs1	T	C	17: 49,746,597 (GRCm39)	F189S	probably damaging	Het
Myo18b	C	T	5: 112,923,211 (GRCm39)	A1849T	probably damaging	Het
Naca	C	A	10: 127,875,214 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,926,868 (GRCm39)	H778Q	possibly damaging	Het
Nlrp4c	C	T	7: 6,068,726 (GRCm39)	P209L	probably damaging	Het
Or10q1b	A	G	19: 13,683,019 (GRCm39)	D276G	probably benign	Het
Or14j1	T	C	17: 38,146,534 (GRCm39)	Y215H	possibly damaging	Het
Or4a81	A	G	2: 89,619,444 (GRCm39)	L84P	possibly damaging	Het
Osbpl9	A	G	4: 108,930,118 (GRCm39)	S258P	probably damaging	Het
Pclaf	A	G	9: 65,808,875 (GRCm39)	E108G	possibly damaging	Het
Pira13	T	A	7: 3,819,917 (GRCm39)	T549S	possibly damaging	Het
Pla2r1	C	A	2: 60,285,517 (GRCm39)	C699F	probably damaging	Het
Pnkp	A	G	7: 44,511,848 (GRCm39)	Y120C	probably damaging	Het
Psme4	T	A	11: 30,798,204 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,587,606 (GRCm39)	S720P	probably damaging	Het
Rasa1	T	C	13: 85,400,633 (GRCm39)	H301R	probably damaging	Het
Spg11	C	A	2: 121,905,015 (GRCm39)	W1316L	probably damaging	Het
Ube2t	C	T	1: 134,901,688 (GRCm39)		probably benign	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	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
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
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

Posted On

2015-12-18