Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01730:Gsap'

105463

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 #

IGL01730

Quality Score

Status

Chromosome

Chromosomal Location

21391253-21520130 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 21495152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036031] [ENSMUST00000115245] [ENSMUST00000195969] [ENSMUST00000198014] [ENSMUST00000198930] [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: ENSMUST00000115245

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195969

Predicted Effect

probably benign
Transcript: ENSMUST00000198014

Predicted Effect

probably benign
Transcript: ENSMUST00000198930

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199553

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,119,583 (GRCm39)	E287G	probably damaging	Het
Bhmt	A	T	13: 93,761,917 (GRCm39)	V122E	probably damaging	Het
Camta1	A	G	4: 151,147,302 (GRCm39)	I585T	probably damaging	Het
Cfap221	A	G	1: 119,861,841 (GRCm39)	S645P	probably benign	Het
Derl1	A	T	15: 57,755,543 (GRCm39)	F50Y	possibly damaging	Het
Dhrs3	T	C	4: 144,646,042 (GRCm39)	S117P	probably damaging	Het
E2f8	A	T	7: 48,527,682 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,154,894 (GRCm39)		probably benign	Het
Fbxo15	A	G	18: 84,982,299 (GRCm39)	I250M	probably benign	Het
Ghr	A	T	15: 3,350,066 (GRCm39)	S371T	probably damaging	Het
Gm5884	A	T	6: 128,622,669 (GRCm39)		noncoding transcript	Het
Grhl2	T	C	15: 37,338,018 (GRCm39)	V496A	probably benign	Het
Irak3	T	C	10: 120,014,005 (GRCm39)	D148G	probably benign	Het
Itga2	A	T	13: 114,990,947 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,987,810 (GRCm39)		probably null	Het
Kif20b	A	T	19: 34,927,923 (GRCm39)	K1022*	probably null	Het
Klhl17	G	T	4: 156,316,157 (GRCm39)	S399*	probably null	Het
Lcp2	A	T	11: 34,000,943 (GRCm39)	D42V	possibly damaging	Het
Lin7c	G	T	2: 109,726,785 (GRCm39)	G145*	probably null	Het
Lrba	A	G	3: 86,648,731 (GRCm39)	D2493G	possibly damaging	Het
Mobp	A	G	9: 119,996,992 (GRCm39)	D41G	probably damaging	Het
Mycbp2	G	A	14: 103,372,640 (GRCm39)	Q785*	probably null	Het
Myl6b	T	C	10: 128,332,211 (GRCm39)	Y85C	possibly damaging	Het
Nup133	G	T	8: 124,664,972 (GRCm39)	H240N	probably benign	Het
Or5b12	A	C	19: 12,896,926 (GRCm39)	F249C	probably damaging	Het
Plk4	T	C	3: 40,760,285 (GRCm39)	S394P	probably benign	Het
Prepl	A	G	17: 85,388,603 (GRCm39)	Y167H	possibly damaging	Het
Prkab1	A	G	5: 116,159,551 (GRCm39)	L105P	probably damaging	Het
Ryr2	T	A	13: 11,616,728 (GRCm39)	I3897L	possibly damaging	Het
Sema3c	A	G	5: 17,916,434 (GRCm39)	S469G	probably benign	Het
Serpinb3c	T	A	1: 107,200,914 (GRCm39)	S168C	probably damaging	Het
Snapc4	A	T	2: 26,253,736 (GRCm39)		probably null	Het
Sorcs2	A	T	5: 36,205,153 (GRCm39)	M528K	probably damaging	Het
Spink10	T	A	18: 62,784,816 (GRCm39)		probably null	Het
Tent5b	A	T	4: 133,213,833 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,554,980 (GRCm39)	Q301H	probably benign	Het
Tmem135	A	T	7: 88,797,252 (GRCm39)	F335I	possibly damaging	Het
Tshr	A	T	12: 91,486,077 (GRCm39)	D217V	possibly damaging	Het
Ttyh1	G	A	7: 4,128,720 (GRCm39)	V206M	possibly damaging	Het
Tusc3	T	G	8: 39,617,880 (GRCm39)	*348G	probably null	Het
Vmn2r76	G	A	7: 85,879,406 (GRCm39)	T298I	probably benign	Het
Wdr47	T	C	3: 108,518,712 (GRCm39)	F67L	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
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
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

2014-01-21