Incidental Mutation 'R8472:Gsap'
ID |
657062 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
067916-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R8472 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 21427432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 187
(R187*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
AlphaFold |
Q3TCV3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036031
AA Change: R187*
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934 AA Change: R187*
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 null
Transcript: ENSMUST00000198014
AA Change: R187*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198071
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198937
AA Change: R187*
|
SMART Domains |
Protein: ENSMUSP00000142986 Gene: ENSMUSG00000039934 AA Change: R187*
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
Ccdc7a |
A |
G |
8: 129,754,138 (GRCm39) |
S152P |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,833,608 (GRCm39) |
S222P |
probably damaging |
Het |
Cdcp2 |
C |
T |
4: 106,959,981 (GRCm39) |
A132V |
probably damaging |
Het |
Cnksr3 |
G |
T |
10: 7,084,532 (GRCm39) |
P71Q |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,247,057 (GRCm39) |
P185L |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,515,883 (GRCm39) |
V319A |
probably damaging |
Het |
Ctxn2 |
A |
G |
2: 124,989,528 (GRCm39) |
I52V |
possibly damaging |
Het |
Cyp2c66 |
A |
T |
19: 39,165,021 (GRCm39) |
H334L |
probably benign |
Het |
Dab1 |
A |
G |
4: 104,336,439 (GRCm39) |
K12E |
possibly damaging |
Het |
Efcab3 |
A |
T |
11: 104,709,463 (GRCm39) |
D1815V |
probably benign |
Het |
Emsy |
T |
C |
7: 98,304,037 (GRCm39) |
|
probably benign |
Het |
Etv4 |
G |
T |
11: 101,674,827 (GRCm39) |
D56E |
probably damaging |
Het |
Exoc3l2 |
C |
T |
7: 19,215,190 (GRCm39) |
R484* |
probably null |
Het |
Extl1 |
A |
G |
4: 134,098,603 (GRCm39) |
C143R |
probably benign |
Het |
Fat3 |
T |
C |
9: 16,286,563 (GRCm39) |
I987V |
possibly damaging |
Het |
Fbn1 |
A |
C |
2: 125,151,722 (GRCm39) |
C2511G |
probably damaging |
Het |
Fer |
T |
A |
17: 64,280,144 (GRCm39) |
S72T |
probably benign |
Het |
Gdf2 |
A |
G |
14: 33,666,797 (GRCm39) |
D173G |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,218,410 (GRCm39) |
M819L |
probably benign |
Het |
Heatr6 |
A |
G |
11: 83,656,679 (GRCm39) |
N314D |
probably benign |
Het |
Hspd1 |
T |
C |
1: 55,117,505 (GRCm39) |
D555G |
probably benign |
Het |
Ighv3-4 |
T |
C |
12: 114,217,649 (GRCm39) |
Y8C |
probably benign |
Het |
Lcmt2 |
A |
G |
2: 120,970,729 (GRCm39) |
V118A |
probably damaging |
Het |
Lmf2 |
T |
C |
15: 89,239,005 (GRCm39) |
E37G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,346,795 (GRCm39) |
L1161P |
probably damaging |
Het |
Mbip |
T |
A |
12: 56,377,054 (GRCm39) |
|
probably null |
Het |
Mgam |
A |
T |
6: 40,671,460 (GRCm39) |
|
probably null |
Het |
Mmrn1 |
G |
A |
6: 60,965,380 (GRCm39) |
S1136N |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,502,943 (GRCm39) |
V73A |
possibly damaging |
Het |
Mtbp |
C |
T |
15: 55,449,748 (GRCm39) |
L24F |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
Nkx3-1 |
A |
G |
14: 69,429,507 (GRCm39) |
N175S |
probably damaging |
Het |
Nlrp4f |
A |
G |
13: 65,342,145 (GRCm39) |
I500T |
possibly damaging |
Het |
Or10a3 |
T |
A |
7: 108,479,973 (GRCm39) |
Q280L |
possibly damaging |
Het |
Or1e1f |
C |
T |
11: 73,856,223 (GRCm39) |
S263L |
possibly damaging |
Het |
Or6c33 |
A |
G |
10: 129,853,445 (GRCm39) |
T72A |
probably damaging |
Het |
Pcdha2 |
A |
G |
18: 37,074,325 (GRCm39) |
D652G |
probably damaging |
Het |
Pde6a |
T |
A |
18: 61,354,018 (GRCm39) |
N114K |
probably damaging |
Het |
Pdp2 |
A |
G |
8: 105,320,913 (GRCm39) |
E254G |
probably benign |
Het |
Pip5kl1 |
T |
C |
2: 32,470,018 (GRCm39) |
V241A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,469,400 (GRCm39) |
D168E |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,296,015 (GRCm39) |
H143Q |
probably benign |
Het |
Serpina16 |
T |
A |
12: 103,638,796 (GRCm39) |
I264F |
probably benign |
Het |
Slc25a41 |
G |
A |
17: 57,348,582 (GRCm39) |
H4Y |
probably benign |
Het |
Slco1a8 |
T |
G |
6: 141,949,115 (GRCm39) |
H87P |
probably damaging |
Het |
Smc3 |
T |
G |
19: 53,617,142 (GRCm39) |
H518Q |
probably benign |
Het |
Snrpb |
G |
T |
2: 130,015,042 (GRCm39) |
T158K |
probably damaging |
Het |
Sobp |
A |
G |
10: 42,898,392 (GRCm39) |
F398L |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,958,591 (GRCm39) |
Q57L |
probably benign |
Het |
Srd5a3 |
T |
G |
5: 76,297,648 (GRCm39) |
V26G |
possibly damaging |
Het |
Stx17 |
A |
G |
4: 48,166,972 (GRCm39) |
T131A |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,332,985 (GRCm39) |
L553P |
possibly damaging |
Het |
Tbc1d30 |
C |
A |
10: 121,187,009 (GRCm39) |
G59C |
probably benign |
Het |
Tekt1 |
T |
C |
11: 72,242,850 (GRCm39) |
D219G |
possibly damaging |
Het |
Trav9d-1 |
A |
T |
14: 53,030,163 (GRCm39) |
D89V |
possibly damaging |
Het |
Trim34b |
T |
C |
7: 103,980,545 (GRCm39) |
I211T |
probably benign |
Het |
Vmn1r25 |
A |
T |
6: 57,955,531 (GRCm39) |
L253M |
possibly damaging |
Het |
Vmn1r56 |
C |
T |
7: 5,198,904 (GRCm39) |
V238M |
probably damaging |
Het |
Wipf3 |
A |
G |
6: 54,466,070 (GRCm39) |
I443V |
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 |
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 |
|
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'- GAAGTGTCTTGGGAGAGTCC -3'
(R):5'- CTGGGTGTGACATAGCAAGG -3'
Sequencing Primer
(F):5'- CCTGTGTTGTGGAGGGGTAC -3'
(R):5'- CAAGGAGGGCTGCTAATTTCTCC -3'
|
Posted On |
2021-01-18 |