Incidental Mutation 'R5031:Gsap'
ID |
391684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
042622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R5031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21447824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 294
(S294N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
AlphaFold |
Q3TCV3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036031
AA Change: S294N
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934 AA Change: S294N
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
AA Change: S294N
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000142986 Gene: ENSMUSG00000039934 AA Change: S294N
Domain | Start | End | E-Value | Type |
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
Pfam:GSAP-16
|
608 |
722 |
1.6e-42 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
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 |
Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
Arhgef19 |
A |
G |
4: 140,978,121 (GRCm39) |
E580G |
probably damaging |
Het |
Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
Kyat1 |
A |
G |
2: 30,078,102 (GRCm39) |
M134T |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
Nabp2 |
G |
A |
10: 128,245,497 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
Trappc12 |
T |
A |
12: 28,742,512 (GRCm39) |
I682L |
possibly damaging |
Het |
Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
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 |
|
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 |
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'- GCTGACCTGAAATTTCATAGCAGC -3'
(R):5'- GAACAAATGACAGCCTGGC -3'
Sequencing Primer
(F):5'- CATAGCAGCTTGATAATATCCCTTTG -3'
(R):5'- TGACAGCCTGGCATAAAAACATATAG -3'
|
Posted On |
2016-06-06 |