Incidental Mutation 'R2125:Gsap'
ID |
229745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsap
|
Ensembl Gene |
ENSMUSG00000039934 |
Gene Name |
gamma-secretase activating protein |
Synonyms |
A530088I07Rik, Pion |
MMRRC Submission |
040128-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R2125 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21391253-21520130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21447811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 290
(C290S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142986
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036031]
[ENSMUST00000195969]
[ENSMUST00000198014]
[ENSMUST00000198071]
[ENSMUST00000198937]
|
AlphaFold |
Q3TCV3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036031
AA Change: C290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043679 Gene: ENSMUSG00000039934 AA Change: C290S
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 damaging
Transcript: ENSMUST00000198937
AA Change: C290S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142986 Gene: ENSMUSG00000039934 AA Change: C290S
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,066 (GRCm39) |
T255A |
possibly damaging |
Het |
Abcb10 |
A |
C |
8: 124,691,831 (GRCm39) |
V378G |
probably benign |
Het |
Ackr2 |
C |
T |
9: 121,737,852 (GRCm39) |
R76* |
probably null |
Het |
Acly |
T |
C |
11: 100,414,322 (GRCm39) |
T35A |
probably benign |
Het |
Acp7 |
A |
C |
7: 28,328,974 (GRCm39) |
F69V |
probably damaging |
Het |
Acsl3 |
T |
A |
1: 78,659,678 (GRCm39) |
I110N |
probably damaging |
Het |
Adam5 |
C |
T |
8: 25,305,134 (GRCm39) |
V107M |
probably damaging |
Het |
Adck2 |
T |
C |
6: 39,552,076 (GRCm39) |
V281A |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,567,654 (GRCm39) |
V5173A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,568,069 (GRCm39) |
S5035T |
probably benign |
Het |
Arl10 |
T |
A |
13: 54,726,937 (GRCm39) |
|
probably null |
Het |
B3gnt3 |
A |
G |
8: 72,146,002 (GRCm39) |
W176R |
probably damaging |
Het |
B4galt4 |
T |
C |
16: 38,586,300 (GRCm39) |
I3T |
probably damaging |
Het |
Casr |
T |
C |
16: 36,315,614 (GRCm39) |
I819V |
possibly damaging |
Het |
Cdh1 |
T |
C |
8: 107,383,472 (GRCm39) |
V237A |
probably damaging |
Het |
Col22a1 |
G |
A |
15: 71,720,426 (GRCm39) |
R605C |
unknown |
Het |
Crlf3 |
A |
G |
11: 79,950,081 (GRCm39) |
V183A |
probably benign |
Het |
Crtac1 |
C |
A |
19: 42,312,171 (GRCm39) |
V181L |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dnah12 |
A |
T |
14: 26,445,613 (GRCm39) |
R725* |
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,327,178 (GRCm39) |
H709L |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,403,099 (GRCm39) |
Y1431C |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,833,978 (GRCm39) |
H834R |
probably benign |
Het |
Eif2ak4 |
A |
T |
2: 118,252,604 (GRCm39) |
H392L |
probably benign |
Het |
Entpd3 |
T |
C |
9: 120,384,720 (GRCm39) |
I99T |
probably damaging |
Het |
Epha6 |
T |
C |
16: 59,503,051 (GRCm39) |
D952G |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,579,389 (GRCm39) |
L429P |
probably damaging |
Het |
F13a1 |
A |
G |
13: 37,076,815 (GRCm39) |
S625P |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,857,447 (GRCm39) |
Y2265F |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,912,406 (GRCm39) |
N240S |
possibly damaging |
Het |
Fcrl6 |
C |
T |
1: 172,426,815 (GRCm39) |
V44M |
probably benign |
Het |
Fmo6 |
A |
T |
1: 162,757,527 (GRCm39) |
M82K |
possibly damaging |
Het |
Gabrr2 |
T |
G |
4: 33,095,548 (GRCm39) |
I479R |
probably damaging |
Het |
Gnl2 |
T |
A |
4: 124,947,278 (GRCm39) |
F633L |
probably benign |
Het |
Greb1l |
C |
T |
18: 10,511,422 (GRCm39) |
S648F |
probably damaging |
Het |
Gusb |
A |
G |
5: 130,028,288 (GRCm39) |
V268A |
probably benign |
Het |
H2-D1 |
G |
A |
17: 35,483,091 (GRCm39) |
|
probably null |
Het |
Hebp2 |
T |
A |
10: 18,417,008 (GRCm39) |
E164D |
probably benign |
Het |
Higd1a |
A |
T |
9: 121,679,313 (GRCm39) |
I58N |
probably damaging |
Het |
Hoxc13 |
G |
T |
15: 102,835,658 (GRCm39) |
R262L |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,453,811 (GRCm39) |
V218A |
probably benign |
Het |
Impg2 |
T |
A |
16: 56,085,427 (GRCm39) |
Y1045N |
probably damaging |
Het |
Kcnk1 |
A |
G |
8: 126,722,395 (GRCm39) |
E66G |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,728,541 (GRCm39) |
V406A |
possibly damaging |
Het |
Klra10 |
G |
A |
6: 130,256,241 (GRCm39) |
R138W |
probably damaging |
Het |
Lama2 |
A |
C |
10: 26,920,449 (GRCm39) |
Y193* |
probably null |
Het |
Larp7 |
T |
C |
3: 127,336,779 (GRCm39) |
T428A |
probably benign |
Het |
Lipg |
T |
C |
18: 75,078,956 (GRCm39) |
N432S |
probably benign |
Het |
Loxl1 |
T |
C |
9: 58,200,995 (GRCm39) |
D489G |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,069,837 (GRCm39) |
K571E |
probably benign |
Het |
Map3k13 |
C |
T |
16: 21,710,894 (GRCm39) |
T59I |
probably benign |
Het |
Mertk |
T |
A |
2: 128,604,058 (GRCm39) |
D397E |
probably benign |
Het |
Mgat3 |
G |
A |
15: 80,096,087 (GRCm39) |
V305I |
probably benign |
Het |
Mrtfb |
T |
C |
16: 13,218,668 (GRCm39) |
V449A |
possibly damaging |
Het |
Mybpc1 |
G |
A |
10: 88,409,299 (GRCm39) |
Q66* |
probably null |
Het |
Myo3a |
A |
G |
2: 22,468,186 (GRCm39) |
D480G |
probably benign |
Het |
Ndufaf3 |
C |
T |
9: 108,443,936 (GRCm39) |
R31Q |
probably benign |
Het |
Neb |
T |
C |
2: 52,200,650 (GRCm39) |
Y343C |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,227,290 (GRCm39) |
|
probably null |
Het |
Or4c10b |
A |
G |
2: 89,711,982 (GRCm39) |
M271V |
probably benign |
Het |
Or8k40 |
A |
T |
2: 86,584,796 (GRCm39) |
N95K |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,159,713 (GRCm39) |
M379V |
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,373,676 (GRCm39) |
V2153E |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,142,939 (GRCm39) |
D427G |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,604,311 (GRCm39) |
Y763C |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,125,774 (GRCm39) |
F1270S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,246,905 (GRCm39) |
V259A |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,179,283 (GRCm38) |
S767P |
possibly damaging |
Het |
Rabl3 |
T |
G |
16: 37,377,175 (GRCm39) |
|
probably null |
Het |
Rffl |
T |
A |
11: 82,709,264 (GRCm39) |
H53L |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,560,355 (GRCm39) |
V495I |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,317,196 (GRCm39) |
D789E |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,582,423 (GRCm39) |
Y1590* |
probably null |
Het |
Siglech |
T |
A |
7: 55,421,434 (GRCm39) |
F190I |
probably benign |
Het |
Slc22a22 |
C |
A |
15: 57,117,636 (GRCm39) |
A302S |
probably damaging |
Het |
Slc46a3 |
T |
A |
5: 147,815,954 (GRCm39) |
T458S |
probably benign |
Het |
Spta1 |
G |
T |
1: 174,035,910 (GRCm39) |
R1072L |
possibly damaging |
Het |
Tbx5 |
A |
G |
5: 119,974,988 (GRCm39) |
T4A |
probably benign |
Het |
Tdrd5 |
T |
C |
1: 156,104,143 (GRCm39) |
R528G |
probably damaging |
Het |
Tfip11 |
T |
C |
5: 112,483,529 (GRCm39) |
V648A |
possibly damaging |
Het |
Thumpd3 |
T |
C |
6: 113,043,749 (GRCm39) |
V388A |
probably benign |
Het |
Tmem131l |
C |
T |
3: 83,850,058 (GRCm39) |
|
probably null |
Het |
Ttf2 |
C |
A |
3: 100,855,509 (GRCm39) |
Q895H |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,720,436 (GRCm39) |
|
probably null |
Het |
Vmn2r13 |
A |
G |
5: 109,306,058 (GRCm39) |
S507P |
probably benign |
Het |
Vtn |
A |
G |
11: 78,391,049 (GRCm39) |
T210A |
probably damaging |
Het |
Zfp1010 |
C |
A |
2: 176,957,195 (GRCm39) |
C101F |
probably damaging |
Het |
Znhit2 |
A |
G |
19: 6,112,091 (GRCm39) |
T279A |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTGAAATTTCATAGCAGCTTG -3'
(R):5'- TCTAGAACAAATGACAGCCTGGC -3'
Sequencing Primer
(F):5'- CATAGCAGCTTGATAATATCCCTTTG -3'
(R):5'- TGACAGCCTGGCATAAAAACATATAG -3'
|
Posted On |
2014-09-17 |